StemCell Therapy

UniQure has started screening patients for its phase 1/2 trial of gene therapy AMT-130 for Huntingtons disease, and says it hopes to start treating the first subject in late 2019 or early 2020.

The start of the trial will give the Dutch biotech a second gene therapy in clinical trials to go along with AMT-061 (etranacogene dezaparvovec), its one-shot therapy for haemophilia B which is in phase 3 testing.

Huntingtons disease is a rare, devastating neurodegenerative genetic disorder that affects motor function and causes severe cognitive decline, eventually leading to total physical and mental deterioration.

The disease is caused by a mutation in the gene coding for huntingtin which causes the formation of an abnormally long and unstable form of the protein that is chopped up by cellular repair mechanisms into smaller, toxic fragments.

AMT-130 consists of an adeno-associated virus (AAV) vector carrying a micro-RNA that is designed to switch off the huntingtin gene and prevent it from producing the mutant form of the protein.

In annual models, a single dose of AMT-130 was shown to reduce huntingtin levels, initially in deep structures of the brain like the striatum that are affected first by the disease and spreading to higher structures such as the cerebral cortex that come into play later in the course of Huntingtons.

The phase 1/2 trial will be conducted in around 26 patients at several clinical sites, who will be treated either with a single dose of the gene therapy directly into the striatum or an imitation procedure with no drug.

The main outcome measures will be safety and the persistence of AMT-130 in the brain, but the trial will look at clinical outcomes including motor, cognition, and behavioural function over a five-year period. First results should be available in 2022.

Other companies notably Wave Life Sciences/Takeda and Ionis/Roche are developing antisense drugs to switch off production of huntingtin, but these would require continuous dosing in order to be effective.

The announcement was made in UniQures third-quarter results update, at which it also said it had completed enrolment of 62 patients into its HOPE-B trial of haemophilia B therapy AMT-061, setting it on course for a readout in 2020 and possible filing in early 2021.

In July, UniQure reported phase 2b results with AMT-061 showing that it could restore Factor IX levels into the normal range for two out of three subjects.

UniQure was the first company to launch a gene therapy onto the market in Europe, introducing Glybera (alipogene tiparvovec) for familial lipoprotein lipase deficiency (LPLD) in 2012, but the product was a commercial flop and was withdrawn from sale in 2017.

Read more from the original source:
UniQure presses go on Huntington's gene therapy trial - - pharmaphorum

It's a very early report, from just two patients, only a few months after treatment. But UMass Medical School Dean Terence Flotte this week shared at a conference what could be landmark news about a terrible genetic disease: Two young patients with Tay-Sachs disease showed no ill effects from a new gene therapy that aims to correct the defect at the heart of the disease.

One of them, treated at just 7 months, has appeared to stabilize instead of following the typical quick slide toward death by age 4.

"It seems right now that she's not degenerating," Flotte said. "But I would say it's too early to say that definitively."

Tay-Sachs is a fatal disorder that tends to affect babies of Eastern-European Jewish ancestry, along with other ethnicities including Cajun and Irish. They usually seem to develop normally for the first few months, but as the disease kills off their nerve cells, they lose the ability to move or breathe on their own.

Flotte says the brain MRI of the baby treated at 7 months looks encouraging, and a clinical trial in more than a dozen patients is expected to begin soon.

Edited highlights of our conversation follow.

You've just presented at a gene therapy conference. What did you report?

We reported the first two patients ever treated with gene therapy for Tay-Sachs disease two infants treated at UMass Memorial Medical Center. What we presented was that these two patients were both treated safely. The vector[the engineered virus that delivered the genetic fix] was administered directly into the brain.

We saw bio-activity, which basically means that we partially restored the enzyme that is missing in Tay-Sachs disease. And the patients were able to tolerate that safely. Also, in one of the cases, with the patient treated early in the course of the disease, we've seen some stabilization of the patient's condition.

What do you mean by stabilization?

One of the patients was treated at 2-1/2 years of age, and that patient had really advanced disease. And we've seen the biochemical effect, but really no clinical effect.

The second patient was treated between 6 and 7 months of age, and in that patient, it appears, although it's still very early, that the patient may be having some continued preservation of her ability to sit up and control her muscles. She's basically seeming to have a more gradual progression at the current time, really being stable at a time point when we might be expecting her to lose some of these developmental milestones.

The best way to explain it is that if a normal infant begins to sit up at around six months of age, Tay-Sachs babies do that, but then they tend to lose the ability to sit up some time between 10 months of age and maybe 15 months of age. The last time we assessed the patient, at 10 months of age (and she's now close to 12 months of age), she seems to not be losing any of the strength required to sit up. We have her older siblings for comparison, and it's encouraging that she seems to be progressing less than they did. We also saw some encouraging signs on her brain MRI.

It seems right now that she's not degenerating. But I would say it's too early to say that definitively. If you think about the progression of development as the slope of a line, the line is flat at this point. It's not going up or going down. The next assessment will be very important, to see whether she's continuing to be flat, which would be a major benefit, or whether she's regressing but just a little bit more slowly.

When you say flat, she's also not advancing as a typical child would?

That is right. It looks like preservation of function rather than gaining. But her oldest sibling died before his third birthday. So considering how fast these patients can decline, a preservation or stabilization could be very important.

It's important to note, too, that we are just at the very beginning. The first patient got the vector injected just into the fluid around the brain, the cerebro-spinal fluid, not into the brain tissue. The second patient got a portion of it injected into the thalamus, which projects out to the entire brain tissue. It's kind of the relay center of the brain, and it can actually ship enzyme out all over the brain.

No one's ever tried that in a humans before, so that was really an important milestone, that intra-thalamic injection. As the trials progress, a larger dose will be injected into the thalamus.

Why has there never been an injection into the thalamus in humans before? What's the challenge?

One challenge is that it is a completely irreplaceable structure. Effectively, all motor and sensory function relays through the thalamus. So if you were to have bleeding or injury to the thalamus, it could cause a stroke or a persistent pain syndrome. So it is somewhat risky. On the other hand, when you're dealing with the infantile form of Tay-Sachs, it's so tragic that it warrants a rather risky approach.

It's been done many times in animals, but this was the first time doing it in patients.

What's next? A full clinical trial?

Yes, Axovant has licensed the program. This first program was done all at UMass Medical School and UMass Memorial Medical Center, and the program is now licensed to Axovant, and they are planning in the near future to do a Phase 2 trial, which we will still be involved in.

It will entail increasing the proportion of the vector injected into the thalamus, so that we will get to the exact proportional dose that was used to correct all of the different animal models that have been treated: a mouse, a sheep and a cat model.

UMassMed Magazine has more on the school's Tay-Sachs gene therapy work here.

Continued here:
Early Report: Baby Treated With Gene Therapy For Deadly Tay-Sachs Disease Appears To Stabilize - WBUR

PTC Therapeutics gene therapy candidate PTC-AADC (formerly AGIL-AADC) provided clinically meaningful and sustained improvements in motor, cognitive, and language milestones in children with aromaticl-amino acid decarboxylase (AADC) deficiency up to five years following the one-time treatment, trial analyses show.

A single dose of PTC-AADC delivered into the brain lowered the number of oculogyric crises (involuntary upward eye movement) and recovered childrens weight, as well as improved their ability to sit, walk, and talk over a five-year period.

PTC Therapeutics will request marketing approval soon, with plans to submit a Biologics License Application (BLA) to the U.S. Food and Drug Administration later this year.

The new findings were shared at the 48th Annual Meeting of the Child Neurology Society (CNS), held recently inCharlotte, NC. Data were presented in two posters titled AGIL-AADC gene therapy results in sustained improvements in motor and developmental milestones through 5 years in children with AADC deficiency (page S136), and Safety and Improved Efficacy Outcomes in Children With AADC Deficiency Treated with AGIL-AADC Gene Therapy: Results From Three Clinical Trials (page S148).

We are excited to see the transformational effects in AADC deficiency patients in this long-term study as patients with severe AADC deficiency never achieve the ability to sit, walk or talk, Stuart Peltz, PhD, PTC Therapeutics CEO, said in a news release.

We are on track to submit a BLA to the FDA by the end of the year and are proud to be on the verge of bringing the first commercial treatment for AADC deficiency patients which is in line with our mission of bringing clinically differentiated treatments to patients with rare disorders, he added.

PTC-AADC is an investigationalgene therapy designed to deliver a healthy copy of the DDCgene the faulty gene in patients with AADC deficiency to nerve cells. The goal is to restore the production of AADC enzyme which is missing because of this genetic defect and counter the symptoms caused by this deficiency.

A working copy of DDC is passed on to cells through an adeno-associated virus that is modified to be non-infectious.

The gene therapy is injected via a surgical procedure into an area of the brain called the putamen. This region is crucial for producing chemical messengers (neurotransmitters) such as dopamine and serotonin, which are involved in movement control but fail to be produced in patients with the disease.

In one of its presentations, PTC Therapeutics provided the most extensive study of PTC-AADCs efficacy and safety to date. It conducted a joint analysis of three open-label clinical trials, which together enrolled 26 children with AADC deficiency, ranging in age from 21 months to 8.5 years.

At the beginning of these studies, children had no full head control and were unable to sit, stand, or walk. They were given a single dose of PTC-AADC (total dose, 1.81011 vector genomes, vg) which was injected into the patients putamen during a single surgery session.

One year after treatment, the patients mean body weight had increased from 12.0 kg to 15.2 kg, and there was a reduction in the frequency of involuntary upward eye movements characteristic of the disease (oculogyric crises).

Dyskinesia (uncontrolled erratic movements) was a common adverse event, affecting 23 of 26 patients, but most events were mild or moderate in severity, and all cases had resolved within 10 months from dosing.

In addition to failing to reach key developmental milestones, such as walking and talking, children with AADC deficiency can experience severe symptoms that affect their everyday lives. These symptoms can include episodes of oculogyric crises, which can last for minutes or hours and involve sustained upward movement of the eyes, involuntary movements of the neck, tongue protrusions and jaw spasms, which can be very distressing for patients and their families, said Claudio Santos, MD, senior vice president of global medical affairs at PTC Therapeutics.

The post-treatment data presented at CNS confirm reductions in the number of patients experiencing oculogyric crises, suggesting that this gene therapy treatment has the potential to make a real difference in the lives of patients with AADC deficiency, he added.

A second analysis demonstrated that PTC-AADCs benefits can hold up to five years after treatment, the longest data available for any investigational therapy for AADC deficiency.

The findings came from the latest follow-up data of two open-label clinical studies: AADC-1601 (NCT02926066), a trial in which patients were enrolled under individual compassionate use consents, and AADC-010 (NCT01395641).

Together, the studies enrolled 18 patients who were 21 months to 8.5 years old. None had full head control or could sit unassisted or stand. In this update, all patients had two years of follow-up data, and eight of these patients had five years of post-treatment data.

Prior results shared by PTC Therapeutics showed that at two years, eight patients (44%) had achieved full head control, six (35%) were able to sit unassisted, and three (17%) could stand without support. Among the eight patients followed for five or more years, four (50%) had full head control, four (50%) could sit unassisted, and two (25%) could stand without support.

The latest results continue to support these meaningful improvements in motor, cognitive, and language skills, and importantly, show that effects from a single dose of PTC-AADC can last at least five years post-treatment.

In addition, all treated patients continued to demonstrate sustained production of dopamine in the body, one of the neurotransmitters missing in patients with AADC deficiency.

No new safety signals were observed during these long-term evaluations.

Ana is a molecular biologist enthusiastic about innovation and communication. In her role as a science writer she wishes to bring the advances in medical science and technology closer to the public, particularly to those most in need of them. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she focused her research on molecular biology, epigenetics and infectious diseases.

Continued here:
AADC Improvements Sustained with Gene Therapy PTC-AADC, Data Say - AADC News

The U.S. National Institutes of Health (NIH) wants to cure HIV and sickle cell disease with gene therapies, and will invest $100 million over the next four years towards that goal, the agency announced today (Oct. 23).

For this effort, the NIH will partner with The Bill & Melinda Gates Foundation, which will also invest $100 million.

Critically, the partnership aims to make the therapies affordable and accessible to people around the world, particularly in developing countries, where the burden of these diseases is greatest.

"This is a very bold goal, but we have decided to go big," Dr. Francis Collins, director of the NIH, said in a news conference today.

The effort aims to have the therapies ready for testing in clinical trials in the U.S. and sub-Saharan Africa within the next seven to 10 years.

Related: 10 Amazing Things Scientists Just Did with CRISPR

The majority of the 38 million people with HIV live in developing countries, with two-thirds living in Sub-Saharan Africa. For sickle cell disease, the majority of cases also occur in Sub-Saharan Africa.

The NIH has been trying to find a cure for HIV for "decades and decades," said Dr. Anthony Fauci, director of The National Institute of Allergy and Infectious Diseases. Although current treatments with antiretroviral therapy (ART) are effective at suppressing the virus in the body, they are not a cure, and must be taken everyday. What's more, there are millions of people with HIV who don't have access to ART treatment.

Although scientists are working to develop gene-based cures for HIV, these approaches are often costly and would be difficult to implement on a large scale, Fauci said. For example, some of these therapies take cells out of a patient's body and then re-infuse them, an expensive and time-consuming intervention.

For this reason, the new collaboration will focus on developing cures that use "in vivo" approaches, meaning they happen inside the body, Fauci said. One example of this could be to remove the gene for the CCR5 receptor, which HIV uses to get inside cells. Another idea is to excise the HIV "proviral" DNA that has copied itself into the human genome and lurks in the body even after years of treatment.

Similarly, for sickle cell disease, the goal would be to develop an in vivo therapy that could repair the genetic mutation that causes the disease. This would require a gene-based delivery system that could selectively target the mutation.

"Beating these diseases will take new thinking and long-term commitment. I'm very pleased to see the innovative collaboration announced today, which has a chance to help tackle two of Africa's greatest public health challenges," Matshidiso Rebecca Moeti, the World Health Organization's Regional Director for Africa, said in a statement.

Still, much work would be needed to make sure these therapies are safe and effective.

"It is very clear we have a ways to go, which is why this is a 10 year effort to try and take that promise and turn it into a reality," Collins said.

Earlier this year, the Trump Administration announced a plan to end the HIV epidemic in the U.S. in 10 years.

Originally published on Live Science.

Continued here:
Can Gene Therapy Cure HIV? US Gov't. Is Banking $100 Million On It. - Livescience.com

Gene therapy is a promising therapeutic procedure for genetic disorders or diseases in which defective genes are corrected, replaced, or inactivated.

In the case of adrenoleukodystrophy (ALD) a genetic disorder caused by mutations in the ABCD1 gene that damages the myelin sheath around nerve cells gene therapy may benefit patients prior to the onset, or during the early stages, of the disease by stopping the progression of demyelination. However, the therapy cannot be beneficial after the disease has worsened significantly.

Gene therapy works by introducing the correct gene sequence into cells. Since genetic material cannot enter the cell on its own, the correct gene sequence needs to be delivered using a vector. This vector can be a modified virus that has been engineered to remove its pathogenic genetic material so that it cannot cause disease, but is still able to transfer the correct gene sequence to the host cell.

The vector can be directly injected into the patients body or into host cells grown in the laboratory and then transplanted back into the patient. Upon successful viral transfer, the host cell should be able to produce the functional protein.

In ALD, the clinician first takes out the patients own stem cells (autologous) and then inserts the correctABCD1 gene sequence into these cells using a viral vector in the laboratory. The corrected stem cells that are able to produce the functional ALD protein are then implanted back into the patients body so they may develop into nerve cells in the brain. Since the patients own cells are being used, there are fewer risks than when donor stem cells are used.

Lenti-D,an investigational gene therapy developed by Bluebird Biois currently being studied in a Phase 2/3 clinical trial (NCT01896102) in the U.S., the U.K., and France. The study aims to evaluate the safety and effectiveness of Lenti-D in boys, up to 17 years old who havecerebral adrenoleukodystrophy (CALD). Based on the preliminary data from this study,the U.S. Food and Drug Administration (FDA)designated Lenti-D a breakthrough therapy for the treatment of CALD in May 2018.

A Phase 1/2 clinical trial (NCT02559830) is recruiting patients with ALD at the Shenzhen Second Peoples Hospital in Guangdong, China. The study aims to assess the safety and effectiveness of transplanting patient-derived bone marrow stem cells, which have been genetically-corrected using a lentiviral vector, for the treatment of ALD.

Another Phase 1/2 clinical trial (NCT03727555) at the Shenzhen Geno-Immune Medical Institute also in Guangdong, China is recruiting 10 patients with ALD. The study aims to evaluate the safety and effectiveness of a lentiviral vector carrying the healthy ABCD1 gene (TYF-ABCD1) injected directly into the patients brain for the treatment of ALD.

***

Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Sorry! The Author has not filled his profile.

Total Posts: 0

zge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.

Continued here:
Gene Therapy - Adrenoleukodystrophy News

The National Institutes of Health (NIH) announced a partnership with the Bill and Melinda Gates Foundation on Wednesday to fund the development of targeted cures for HIV and sickle cell disease with a view to helping people in developing countries using gene therapy. With most of the populations affected by each disease residing in sub-Saharan Africa, treatments are being sought with regional conditions in mind.

The NIH and the Gates Foundation are investing $100 million in the initiative to develop low-cost gene therapies. The announcement follows President Donald Trump's pledge in his 2019 State of the Union address that the United States would eradicate HIV within the next decade. The Trump administration has also tried to draw more attention to sickle cell disease (SCD) in the past few years, according to a press release from NIH.

Sickle cell disease is a blood disorder that can cause anything from mild pain to heart failure. Human immunodeficiency virus (HIV) is a communicable disease that, if left untreated, wipes out the immune system. People with SCD inherit the disease from their parents, whereas HIV is acquired through blood contamination with certain bodily fluids of an infected person. While the mechanisms of transmission are different, both diseases are carried in the genome of infected individuals. Globally, both diseases also disproportionately impact individuals in lower-income communitiesand scientists believe that both could be combatted with gene-based treatments.

The past few years have seen unprecedented strides toward cures for these two diseases using gene therapy, which the NIH defines as experimental technique wherein doctors insert genes into a patient's cells so their body can more effectively resist a disease. It can include inserting a healthy variant of a gene to replace the unhealthy copy that causes a disease, or placing an entirely new gene in the body to fight the disease.

"Dramatic advances in genetics over the last decade have made effective gene-based treatments a reality... Yet these breakthroughs are largely inaccessible to most of the world by virtue of the complexity and cost of treatment requirements, which currently limit their administration to hospitals in wealthy countries," the press release states. The new initiative will focus on developing treatments that can be delivered in "low-resource settings."

Speaking on the initiative's viability, Dr. Ronald Mitsuyasu, a professor of medicine in hematology-oncology at the University of California, Los Angeles with more than 25 years of experience in HIV clinical trials research, told Newsweek that this sort of solution has been attempted in the past, but gene therapy hasn't yet proved successful in treating HIV.

"There have been several attempts to use gene therapy for HIV by either incorporating genes that suppress HIV genes, producing decoys for various viruses required processes needed for viral replication, or substituting inactive genes for functional genes of HIV," he said.

But those living in developing countries have not had as many chances to benefit from these solutions as those living in places like the U.S., according to the press release.

"SCD and HIV are major burdens on health in low-resource communities around the world," the press release read. "Approximately 95% of the 38 million people living with HIV globally are in the developing world, with 67% in sub-Saharan Africa, half of whom are living untreated. Fifteen million babies will be born with SCD globally over the next 30 years, with about 75% of those births occurring in sub-Saharan Africa."

Further, the prediction indicates that three-quarters of those infants will be born into low-income countries and communities. Between 50 and 90 percent of babies born with the disease in sub-Saharan African countries will die before the age of five, according to the release.

So, the NIH and the Gates Foundation's initiative aims to identify potential cures for both diseases as well as partner with groups in Africa to identify candidates on whom these new cures can be tested.

We are losing too much of Africa's future to sickle cell disease and HIV. Beating these diseases will take new thinking and long-term commitment. I'm very pleased to see the innovative collaboration announced today, which has a chance to help tackle two of Africa's greatest public health challenges." Matshidiso Rebecca Moeti, M.B.B.S., the World Health Organization's regional director for Africa said of the initiative.

Mitsuyasu said he agreed that continued investigation into gene-based cures would eventually yield worthwhile results. "I personally believe that it should be possible to ultimately develop a gene therapy approach to overcome ... HIV," Mitsuyasu said. "Continued scientific developments in the field of gene therapy will eventually allow for the conquest of most genetic and viral gene integrated diseases."

See more here:
Gates Foundation, NIH Bet on Gene Therapy To Bring Cheap HIV and Sickle Cell Cures to Sub-Saharan Africa - Newsweek

Sigmund Freud never uttered the word neuroscience. Neither did Santiago Ramn y Cajal. It was biophysicist Francis Schmitt who grafted neuro with science in 1962 when he established the Neurosciences Research Program at MIT. The new moniker was intended to encompass a merging of relevant neuro disciplines, ranging as far afield as physiology, psychology, immunology, physics and chemistry.

Brains and behaviors have been scrutinized for millennia. But as psychology blogger Vaughn Bell has pointed out, the 1960s marked a shift in perspective. Neuroscience was the formal name given by Schmitt. But the period represented the beginnings of a neuroculture, that put brain science on a pedestal even leading to the familiar meme proclaiming my brain made me do it. One example was rooted in pharmaceutical companies development of psychiatric drugs that resulted in their investing millions both into divining the neurochemistry of experience and into massive marketing campaigns that linked brain functions to the psyche, Bell notes.

The field received an adrenaline boost precisely 50 years ago with the founding of the Society for Neuroscience, allowing Schmitts collaborative vision to be globally shared. SFNs first annual meeting in 1971 drew 1,395 attendees to Washington, D.C. This years wrapped up on October 23, bringing more than 27,500 to Chicagoand the annual numbers have occasionally topped 30,000. SFN now boasts 37,000 members from more than 95 countries.

Anything to do with the topic brain found a place among the more than 14,500 abstracts of unpublished work presented in 2019 on themes ranging from the mechanisms of sleep to cocaine craving. But the society has had to adapt its U.S.-based get-together this year to respond to a world of closing national borders.

Some members were unable to get visas to enter the U.S., in part because of the U.S. travel ban, which includes broad restrictions on visits from Iran,Libya,Syria,Yemen,Somalia,North KoreaandVenezuela. In response, SFN initiated a program called Science Knows No Borders in which would-be attendees had a PDF printed out and posted or else PowerPoints and a recorded talk proferred in their absence. An Iranian doctoral student, Shahrzad Ghazisaedi, from University of Toronto, a neuropathic pain researcher, was one among about a dozen people who took advantage of the program (not all of them necessarily subject to the travel ban). Her poster entitled Sex specific DNA methylation pattern in spinal cord and periaqueductal gray (PAG) before and after peripheral injury could be seen Monday afternoon by attendees during a session entitled Central Nervous System Mechanisms in Pain.

For those who actually were able to make it, a range of topics caught the eye: research on nervous system immune cells implicated in a range of disorders, a gene therapy for converting the brains support cells to neurons for treating Alzheimers, a prosthetic forearm that provides a sense of touch and synchronization of brain waves between two people holding hands. Also, a group of scientists got together to start planning a test in humans to determine which of two theories of consciousness is more likely to be correct.

Another theme that stood out was the challenge of working with miniaturized brain facsimiles, called organoids, that show promise of more faithfully replicating what goes on in the human organ than a mouse brain can. Organoids, though, are too close to a Mary Shelley creation for some people. At the conference, members of the Green Neuroscience Laboratory in San Diego called for a research moratorium on organoid tissue implanted into mice or other animals, a technique already in use. In an abstract for their talk, they ventured that the technology is perilously close to crossing an ethical Rubicon in which organoids may experience sentient activity and behavior. The group advocates that methods should be developed to ascertain whether any given organoid has the ability to sense and react to its surroundings.

At a press conference of scientists who grow the five-millimeter-diameter mini brains, ethical debate was welcomed, but the researchers also tried to place their work in context. Paola Arlotta from Harvard showed a video of organoids, at most the size of small peasnothing resembled an imagined brain-in-a-dish. The brain bits are also difficult to work withchallenging to grow reproducibly and their cells do not mature to become an exact replica of human cells, but instead end up with a confused identity. Researchers think the kinks can be worked out, but, even then, that may not pave the way for growing full-sized organs.

Most scientists are not interested in figuring out how to grow a human brain in a dish, says Arnold Kriegstein, of the University of California, San Francisco. They are more interested in a particular disease mechanism or a certain process they want to study. And that really requires a reductionist system. It's too complicated to study an intact human brain. What you really want are the important elements, which you can dissect and delve into in great detail in the laboratory.

Everyone agreed that discussion about mini-brain ethics is warranted. But as far as existential threats, tiny tissue nuggets run amok may not be at the top of a list that includes antibiotic resistance, climate change and self-driving cars engineered with internals that produce a loss of control that resembles a wayward 737 MAX.

Read the original here:
Society for Neuroscience at 50 Delves into Mini Brains, Gene Therapy, Prosthetics and All Else Related to Our Three-Pound Wonder - Scientific American

Dive Brief:

The EMA's green light for Bluebird's manufacturing removes a final hurdle standing in the way of marketing the gene therapy, which costs $1.8 million per patient.

A requirement from European authorities to narrow drug product specifications for Zynteglo forced the company to delay the gene therapy's launch later than when Wall Street analysts had expected.

In a statement, Apceth said it's ready for the challenge to bring Bluebird's treatment to market. Between 2,000 and 3,000 patients in the European Union would be eligible under the conditions approved by regulators for Zynteglo's use.

Bluebird has cautioned investors to take a long view of the new treatment's prospects, and to expect a slow start. In addition to winning approval for the new manufacturing specifications, Bluebird has to navigate through healthcare systems that aren't used to paying large sums for a one-time treatment.

In hopes to alleviating those problems, the company has offered an installment plan that would require later payments only if the treatment continues to benefit patients. The hope is that Zynteglo saves healthcare dollars by sparing beta-thalassemia patients the need for regular blood transfusions and the complications that can go along with them.

Patients with the blood disorder carry a genetic mutation that hinders the body from effectively producing the crucial oxygen-carrying protein hemoglobin. As a result, they often require transfusions every two to five weeks to fight anemia.

"This is one step along the commercial journey as we advance our ongoing launch and market access activities on a country-by-country basis," said Alison Finger, Bluebird's chief commercial officer, in the company's statement on the EMA's nod.

In a September company presentation, Bluebird said it wants to make sure to "get the model right" as it looks toward future gene therapies it's developing in its pipeline. The company is initially planning to offer Zynteglo through treatment centers in Germany, Italy, the U.K. and France, with a drug manufacturing facility in Munich.

Read more:
Bluebird gets European green light for gene therapy production - BioPharma Dive

A gene therapy for a rare blood disorder has shown what the manufacturer calls the first evidence of long-term improvement associated with the disease.

New York-based Rocket Pharmaceuticals said Thursday that it had presented long-term follow-up data from the Phase I/II study of RP-L102, its gene therapy for Fanconi anemia, at the annual congress of the European Society of Cell and Gene Therapy in Barcelona, Spain. The company said it represented the first evidence of long-term improvement and stabilization in blood counts and durable mosaicism among patients who received the therapy without the use of the conditioning regimens normally used for allogeneic stem cell transplants, which the company calls Process A.

Shares of Rocket were up slightly on the Nasdaq following the news. RP-L102 is a lentiviral vector-based gene therapy. Most other gene therapies in development, and both of the currently marketed ones Spark Therapeutics Luxturna (voretigene neparvovec-rzyl) and Novartis Zolgensma (onasemnogene abeparvovec-xioi) are adeno-associated viral vector-based.

According to the data, representing four of nine patients, there were improved blood counts and long-term bone marrow mitomycin C (MMC) resistance, thereby indicating durable phenotypic correction. The data met or exceeded a 10 percent threshold that the company said the Food and Drug Administration and European Medicines Agency had agreed to for its upcoming Phase II registration study, for which it plans to start enrolling patients by the end of the year.

FA is a rare, genetic bone marrow failure disorder, half of whose patients are diagnosed before the age of 10, while about 10 percent of patients are diagnosed as adults, according to the National Organization for Rare Disorders. It is often associated with progressive deficiency of production of red and white blood cells and platelets in the bone marrow and can eventually lead to certain solid and liquid tumor cancers. It occurs in 1-in-136,000 births and is more common among Ashkenazi Jews, Spanish Roma and black South Africans.

These results indicate the feasibility of engraftment in FA patients using autologous, gene corrected [hematopoietic stem cells] in the absence of any conditioning regimen, said Dr. Juan Bueren, scientific director of the FA gene therapy program at Spains Center for Energy, Environmental and Technological Research, in a statement. This indicates the potential of this therapeutic approach as a definitive hematologic treatment, while avoiding the burdensome side effects associated with allogeneic transplant, including the risk of post-transplant mortality and a substantially higher risk of head and neck cancer.

Photo: virusowy, Getty Images

See the rest here:
Rocket's gene therapy shows long-term efficacy in rare blood disorder - MedCity News

In Junedata on three subjects in a phase II trial of Krystal Biotechsepidermolysis bullosa gene therapy sent the group's share price up 41%. Today a final update from the trial, including results from two new patients, left investors unmoved.

This might have something to do with the updated data showing that two lesions that had been successfully treated with Krystals therapy at 90 days had reopened a month later, raising questions about whether the treatment works in the long term.

The two new patients with severe recessive dystrophic epidermolysis bullosa (RDEB) had beenadded to the trial in June 2019, after the initial data release(Krystal plays down dropout to claim a mid-stage win, June 25, 2019). Bercolagene telserpavec or B-Vec for short, formerly called KB103, was administered to one wound on each patient every other day for two weeks, or until the wound closed completely. The other wound was treated with a placebo gel.

This differs slightly from the earlier phase II patients, who had B-Vec administered to two wounds each and placebo to a third.In its press release Krystal trumpeted that, of all 10 wounds treated in the phase I and phase II trials, nine had healed at 90 days.

The unhealed 90-day lesion was a chronic wound, reported to have been open for over four years, in one of the patients in the first phase II cohort. It was still only 42% closed at 90 days following the initial administration of B-Vec. The wound was re-dosed with B-Vec approximately three and a half months later, and healed within a week of this second dose.

Reopening

But the company glossed over the fact that, at four months, two of the healed B-Vec-treated wounds in cohort 1 had reopened: at 120 daysa lesion on one patients back had returned to only 77% closure, and another patient had a lesion on their left upper arm return to 85% closure.

Moreover, one of the placebo-treated wounds that had not healed at 90 days did heal at 120. At the four-month point, across both phase II cohorts, the success rates are 63% for B-Vec versus 20% for placebo not quite emphatic as the earlier 90% versus 14%.

One question iswhich time point is the more important? On clinicaltrials.gov the primary endpoint cutoff is listed as wound healing at 24 weeks a completely different point, and one that has not yet been reached, despite Krystals statement that this would be the final update from the phase II trial.

EB is a cyclical disease. Wounds open, close and reopen in the natural course of the condition even without treatment, so it can be tricky to show a drugs effect. Krystal intends to move B-Vec into phase III, and investors might want to take careful note of the time point regulators pick for the primary endpoint.

Visit link:
Gene therapys duration is less than Krystal clear - Vantage

Cobra Moradian, Fatemeh Rahbarizadeh

Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Correspondence: Fatemeh RahbarizadehDepartment of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Jalal AleAhmad Highway, Tehran 14115-111, IranTel +98 21 82883884Fax +98 21 82884555Email rahbarif@modares.ac.ir

Background: Breast cancer stem cells (BCSCs) are cells with a higher ability to metastasis and resistance to conventional treatments. They have a phenotype of (CD44high/CD24low) and the unlimited ability for proliferation. Development of strategies to target the BCSC population may lead to the establishment of more effective cancer therapies. Pseudomonas exotoxin A (PE) is a potent cytotoxic protein. CXCR1 promoter provides BCSC and HER2 specificity on transcription level. 5UTR of the basic fibroblast growth factor-2 (bFGF 5UTR) provides tumor specificity on translation level. Here, we utilized a mutant form of PE encoding DNA PE38, CXCR1 promoter and bFGF 5UTR to target BCSCs.Methods: The stemness of SK-BR-3, MDA-MB-231 and MCF10A cell lines were evaluated based on the expression of the CD44high/CD24low stem cell signature and the ability to form mammospheres. Then, the cell lines were transfected with constructs encoding luciferase/PE38 under the control of the CMV/CXCR1 promoter with or without bFGF 5UTR. Luciferase protein expression was evaluated using dual-luciferase reporter assay. PE38 transcript expression was measured by real-time PCR, and the cytotoxic effect of PE38 protein expression was determined by MTT assay.Results: The percentage of CD44high/CD24low population did not correlate to mammosphere forming efficiency (MFE). Given that the percentage of CD44 high/CD24 low is not a conclusive BCSC profile, we based our work on the mammosphere assay. However, in comparison with MCF10A, the two tumorigenic cell lines had higher MFE, probably due to their higher BCSC content. Reporter assay and real-time PCR results demonstrated that CXCR1 promoter combined with bFGF 5UTR increased BCSC-specific gene expression. Meanwhile, tightly regulated expression of PE38 using these two gene regulatory elements resulted in high levels of cell death in the two tumorigenic cell lines while having little toxicity toward normal MCF10A.Conclusion: Our data show that PE38, CXCR1 promoter and bFGF 5UTR in combination can be considered as a promising tool for killer gene therapy of breast cancer.

Keywords: breast cancer stem cell, PE38, CXCR1 promoter, bFGF-2, HER2, mammosphere

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Read more:
Targeted Toxin Gene Therapy Of Breast Cancer Stem Cells Using CXCR1 Pr | OTT - Dove Medical Press

During the third-quarter financial call, Vasant Narasimhan, CEO of Novartis, noted that questions from European and Japanese regulators regarding chemistry, manufacturing and controls (CMC) were behind expected decision dates on Zolgensma (onasemnogene abeparvovec) being pushed back into 2020.

At present, the company expects to receive opinions from the European Medicines Agency (EMA) and the Japanese Pharmaceuticals and Medical Devices Agency (PMDA) in the first quarter and the first half of 2020, respectively.

Narasimhan revealed few other details regarding the questions, only that there were an extensive set of questions with respect to manufacturing, to which it had submitted responses. Reuters stated that he also confirmed that the decision delay was not due to the revelation of data manipulation in August.

Despite the setback on potential approval date, the company was able to confirm that the product had achieved US sales of $160m (143m), arriving higher than analyst predictions of $98m (88m).

When questioned on the patient numbers this related to, on paid programs, Narasimhan confirmed that approximately 100 patients had been treated though other patients had received the gene therapy through treatment in clinical trials.

Once approved in elsewhere in the world, Narasimhan predicted such number could increase rapidly: I think in some countries in Europe, as well in the Middle East, there could be very strong demand coming very quickly after approval.

He cited pent-up demand as a reason that sales would increase quickly, and also pointed to early access programs being made available in France, Portugal and Germany as another positive long-term sign for the product.

The company will need to see substantial return on the product, after investing $8.7bn in the AveXis acquisition to gain access to the technology.

Read more from the original source:
Novartis gene therapy held up by manufacturing questions - BioPharma-Reporter.com

PTC Therapeutics has presented new long-term outcome data from its investigational gene therapy, PTC-AADC, in patients living with aromatic L-amino acid decarboxylase (AADC) deficiency.

The one-time gene therapy was found to give patients the ability to sit, walk, and talk, from data representative of up to five years of follow up post-treatment.

The new analysis evaluated outcomes of 26 patients with AADC deficiency across three separate clinical trials, and found that 12 months post-treatment with PTC-AADC, patients mean body weight had increased from 12.0 kg to 15.2 kg, and the frequency of oculogyric crises (involuntary upward eye movement) was reduced.

The data, presented at the Child Neurology Society 48th Annual Meeting, is a result of the most comprehensive analysis of patients treated with PTC-AADC to date.

Unfortunately, there are currently no approved therapies that address the underlying cause, and as such patients with severe AADC deficiency have a high risk of death during childhood.

The company is excited to see the transformational effects in AADC deficiency patients in this long-term study as patients with severe AADC deficiency never achieve the ability to sit, walk or talk, said Stuart Peltz, chief executive officer of PTC Therapeutics.

He also announced that PTC is on track to submit a biologics license application (BLA) to the FDA by the end of the year and are proud to be on the verge of bringing the first commercial treatment for AADC deficiency patients, which is in line with our mission of bringing clinically differentiated treatments to patients with rare disorders.

AADC deficiency is a rare genetic condition caused by a mutation in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin.

It results in delays or failure to reach developmental milestones such as head control, sitting, standing, walking, or talking, low muscle tone, severe, seizure-like episodes involving involuntary eye movement, autonomic abnormalities, and the need for life-long care.

Read the original post:
Investigational gene therapy shows long-term success in AADC - PharmaTimes

The Centre for Process Innovation (CPI) has announced it has overcome a significant bottleneck in the development of gene therapies.

CPI said its CRD IUK project, which was launched in partnership with Cobra Biologics and GE Healthcare Life Sciences, has been successful in its aim to develop a scalable, cost-effective purification process for adeno-associated viruses (AAVs).

AAVs are a vital technology for the delivery of gene therapies into patients. By transporting genetic material into patient cells, AAVs are able to provide a cure for otherwise untreatable diseases.

However, manufacturers are currently hindered by the low efficiency of AAVs production, which slows down the overall development timescale of gene therapies, ultimately increasing the cost for payers in healthcare systems.

The CRD IUK project was funded by a 570K grant from Innovate UK and focused on optimising an AAV purification process using GE Healthcare Life Sciences Fibro chromatography material. The material is based on electrospun cellulose nanofibers that contain different chromatography functionalities, overcoming the limitations of existing chromatographic supports.

Whilst the technology was understood to be highly effective for purification of biomolecules, the CRD IUK project extended the technologys effectiveness to AAVs. After assessing the technology, a multistep purification process was developed for AAV purification.

Daniel Smith, chief scientific officer, Cobra Biologics, said:We are delighted to have been part of this collaboration working to develop robust processes for use in the development of gene therapies. This project has provided a scalable, cost-effective fibre-based chromatography method for production of AAVs that will greatly enhance development of innovative new treatments.

John Liddell, chief technologist, CPI, said: Gene therapies have the potential to be transformative for disease areas with unmet clinical need, and effective manufacturing processes are crucial for reaching the time and cost points necessary for achieving commercialisation. This was the second Innovate UK-funded project related to viral vectors for CPI and therefore further enhances the Catapult centres ability to support growth of this emerging sector, which has been confirmed in subsequent gene therapy projects.

Oliver Hardick, business leader, Puridify, GE Healthcare Life Sciences, added: This has been an excellent collaboration with Cobra Biologics and CPI. Together, we have made a big step forward in the production of viral vectors to be used in gene therapies. The success of the project will significantly reduce the cost and time associated with development and manufacturing of AAVs, helping to accelerate delivery of gene therapy products to market.

Continued here:
Industry collaboration overcomes significant bottleneck for gene therapy production - EPM Magazine

A new report has predicted that gene therapy development will pick up pace but a high price point continues to pose a challenge.

According to a new report, ongoing collaborations between different industry players and a buildup of real-world evidence establishing safety and efficacy are expected to drive the growth of gene therapies for neurology indications.

The report from GlobalData, continues that, of the 38 pipelines products that are currently in development, 45 percent are adeno-associated virus (AAV) based delivery platforms. Other types include Lentiviral, which accounts for 13 percent.

A majority of the current pipeline products are in Phase II development and the most common neurology indications for which gene therapies are currently being evaluated include Parkinsons disease, pain and amyotrophic lateral sclerosis, said Vinie Varkey, Senior Analyst at GlobalData. The dominance of viral vectors is expected to continue as such platforms account for the bulk of these pipeline products, with adeno-associated virus being the most common among the viral vectors.

A high price point poses a challenge for the development of gene therapies, Varkey says, with key opinion leaders (KOLs) interviewed by GlobalData highlighting the need to create sustainable funding solutions so that such therapies become accessible to patients everywhere irrespective of where patients are located.

While the development of gene therapies are expected to pick up pace, the next wave of such therapies are expected to be ones that target diseases that are more frequent.

While monogenic rare diseases are the obvious first-to-go choice for which gene therapies can be developed, targeting more frequent diseases will need a holistic approach in order to address a wider mechanism of action, Varkey concludes. If gene therapies for frequent diseases do become available, then that will result in a more pronounced effect on healthcare not only in terms of providing better treatment options for patients but also test the ability of healthcare organisations to adapt with high price points of these therapies.

Excerpt from:
New report predicts growth of gene therapies for neurology indications - European Pharmaceutical Review

US researchers have highlighted the potential of using gene therapy to treat wet age-related macular degeneration (AMD) at the annual meeting of the American Academy of Ophthalmology (1215 October, San Francisco).

Dr Szilard Kiss, from Weill Cornell Medical College, shared his belief that a gene therapy for wet AMD could be available within the next three to five years.

Dr Kiss and his team developed a vector that inserts genetic material producing a molecule similar to anti-VEGF medicine aflibercept within the cells of the eye.

Once inserted, the DNA sequence begins making aflibercept protein.

Instead of taking a vile of aflibercept and injecting it into the eye, your eye makes the aflibercept, Dr Kiss highlighted.

The goal is a potentially one-and-done treatment. You may need a booster once in a while, but this gene therapy could theoretically last a lifetime, he added.

Image credit: Pixabay/PublicDomainPictures

Read more:
Using a one-and-done gene therapy to treat wet AMD - AOP

28 October 2019

The Bill and Melinda Gates Foundation has teamed up with the National Institutes of Health (NIH), the US national science funding body, to pledge US$100 million each over four years towards development of gene therapies for HIV and sickle cell anaemia. Their intention is to make gene therapies globally accessible, particularly in low resource areas in the USA and sub-Saharan Africa.

'This unprecedented collaboration focuses from the get-go on access, scalability and affordability of advanced gene-based strategies for sickle cell disease and HIV to make sure everybody, everywhere has the opportunity to be cured, not just those in high-income countries,' said Dr Francis Collins, the director of NIH. 'We aim to go big or go home.'

Significant advances have been made in gene therapy in recent years, made possible by new technologies such as CRISPR genome editing. Those techniques that are now becoming available, for example to treat inherited blindness, neuromuscular disease and leukaemia, are currently expensive and challenging to deliver.

In most cases, the approaches involve removing cells from the body, editing or removing genes, then reintroducing the cells, a risky process that requires a good medical infrastructure. The collaboration between the Gates Foundation and the NIH aims to overcome this hurdle to access in lower income countries by developing approaches that can be delivered directly into the body without the need to remove cells first.

The two diseases named in the proposal, sickle cell anaemia and HIV, are major global health burdens. Approximately 38 million people live with HIV worldwide, with 67 per cent of those sub-Saharan Africa, half of whom are living untreated. Fifteen million babies will be born with sickle cell disease globally over the next 30 years, with about 75 percent of those births in sub-Saharan Africa.

'We are losing too much of Africa's future to sickle cell disease and HIV,' said Matshidiso Rebecca Moeti, regional director for Africa at the World Health Organisation. 'Beating these diseases will take new thinking and long-term commitment. I'm very pleased to see the innovative collaboration announced today, which has a chance to help tackle two of Africa's greatest public health challenges.'

'Yes, this is audacious,' Dr Collins said. 'But if we don't put our best minds, resources, and visions together right now, we would not live up to our mandate to bring the best science to those who are suffering.'

Read more from the original source:
Gates Foundation and NIH pledge $200 million for gene therapies - BioNews

Shares of gene therapy biotech companies vaulted higher Thursday on rumors the U.S. Federal Trade Commission cleared Roche's (RHHBY) takeover of Spark Therapeutics (ONCE).

On the stock market today, Spark stock rocketed 7.5%, to 108.64, in huge volume, after Twitter exploded with rumors the deal had passed FTC muster. Shares of Uniqure (QURE), often seen as a prime takeover candidate among gene therapybiotech companies, popped 8.3%, to 46.02.

Roche announced its $4.8 billion takeover of Spark in February. The deal was expected to close in the second quarter, but has since been mired in regulatory discussions.

In June, Roche said it and Spark received requests for additional information regarding the proposed transaction from the FTC and the U.K. Competition and Markets Authority. At the time, most believed the deal would close in July.

Earlier this month, the Swiss drugmaker confirmed its plan to buy Spark before year's end.

Representatives of Roche and Spark declined to comment in emails to Investor's Business Daily.

Follow Allison Gatlin on Twitter at @IBD_AGatlin.

YOU MIGHT ALSO LIKE:

Medtech Giant Unveils Accounting Probe And Sacrifices Its Flat Base

How Your Fur Baby Is Bolstering A $45 Billion Health Business

Short-Term Trades Can Add Up To Big Profits. IBD's SwingTrader Shows You How

How To Trade: Should You Buy A Stock Ahead Of Its Earnings Report?

Watch IBD's Investing Strategies Show For Actionable Market Insights

View original post here:
Biotech Companies In Gene Therapy Launch On Rumors Roche Clinched Takeover Of Spark - Investor's Business Daily

Catalent (stand 121A82), the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products, today announced a busy conference program at the forthcoming CPhI Worldwide annual conference, being held at the Messe Frankfurt, Frankfurt, Germany, on Nov. 5 - 7, 2019.

SOMESET, N.J., Oct. 29, 2019 /PRNewswire-PRWeb/ -- Catalent (stand 121A82), the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products, today announced a busy conference program at the forthcoming CPhI Worldwide annual conference, being held at the Messe Frankfurt, Frankfurt, Germany, on Nov. 5 7, 2019.

On Tuesday, Nov. 5 at 10:30 a.m., Jeremie Trochu, Vice President, Operations, Oral Drug Delivery, will participate in a panel session titled "Exploring Trends in Contract Manufacturing". Panelists will discuss market trends that are currently impacting contract development and manufacturing organizations (CDMOs), and how CDMOs have evolved their strategies to meet the unmet needs of the industry, as well as drive growth.

On Wednesday, Nov. 6 at 10:30 a.m., during the "Understanding the Cell & Gene Technology Opportunity" panel session, Thomas VanCott, Ph.D., Chief Technology & Strategy Officer, Paragon Gene Therapy (part of Catalent Biologics), will discuss ways in which CDMOs can create the correct infrastructure to support innovation, and the sector's commercialization and pricing challenges. Dr. VanCott will also discuss the various investment opportunities offered by the cell and gene therapy sector.

During the BioProduction conference, on Thursday, Nov. 7 at 12:20 p.m., Melanie Lasher, Manager, Project Management, Catalent Biologics will present "Beating the Clock: Case Studies in Accelerating Biologic Development" in the conference's "Manufacturing Strategies & Bioprocessing 4.0" stream. Using case studies, Ms. Lasher will highlight and discuss how previous challenges to reduce scheduling delays and accelerate timelines were overcome in projects progressing from cell line development to clinical trial supply.

Mr. Trochu joined Catalent in 2012, following 10 years at General Electric where he held several commercial leadership positions within its healthcare division. His current role sees him lead Catalent's global oral solid pharmaceutical development services. Mr. Trochu received a master's degree in international management from Emlyon Business School, cully, France.

Dr. VanCott joined Paragon following 14 years as the President and CEO of Advanced Bioscience Laboratories, Inc. (ABL). Before joining ABL, he held several positions at the Henry M. Jackson Foundation for the Advancement of Military Medicine. Dr. VanCott received a doctorate in physical chemistry from the University of Virginia, Charlottesville, Virginia, and a bachelor's degree in chemistry from Dickinson College, Carlisle, Pennsylvania.

Ms. Lasher has more than 10 years' experience in the biopharma industry. She has managed a variety of clinical, process and performance qualification, and commercial projects, supporting drug substance manufacturing, drug product filing, and packaging. Ms. Lasher received a bachelor's degree in management from Indiana Wesleyan University, Marion, Indiana, and is a certified Project Management Professional.

At the conference, Catalent will also be exhibiting and showcasing its multiple innovative technologies, including its OneBio platform, which has been shortlisted for a CPhI Excellence in Pharma Award, in the "Contract Services and Outsourcing" category. The winners will be announced at a gala dinner on Tuesday, Nov. 5.

Earlier that day and on Wednesday Nov. 6 at 4 p.m., Catalent will host a networking reception on their stand. For more information visit stand 121A82 or http://www.catalent.com.

To arrange a meeting with any of the attending Catalent experts at the event, contact Richard Kerns at NEPR - richard@nepr.agency.

About Catalent Catalent is the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, gene therapies, and consumer health products. With over 85 years serving the industry, Catalent has proven expertise in bringing more customer products to market faster, enhancing product performance and ensuring reliable clinical and commercial product supply. Catalent employs nearly 13,000 people, including approximately 2,400 scientists and technicians, at more than 35 facilities, and in fiscal year 2019 generated over $2.5 billion in annual revenue. Catalent is headquartered in Somerset, New Jersey. For more information, visit http://www.catalent.com More products. Better treatments. Reliably supplied.

See the article here:
Catalent to Discuss Accelerating Development in Biologics and Gene Therapies as well as Oral Outsourcing Market Trends at CPhI Worldwide - Yahoo...

This article, written byRuanne Vent-Schmidt, University of British Columbia, originally appeared on The Conversation and has been republished here with permission:

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My passion for vision research is personal

My doctoral dissertation at the University of British Columbia was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Enrol in a patient registry

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

Blossoming gene therapy trials

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

Ruanne Vent-Schmidt, PhD Candidate, Cell & Developmental Biology, University of British Columbia

This article is republished from The Conversation under a Creative Commons license. Read the original article.

See more here:
BEYOND LOCAL: How people living with genetic eye conditions can drive vision research forward - TimminsToday