Barth syndrome is an X-linked metabolic disorder, affecting only males. It has widespread systemic effects presenting with cardiomyopathy, neutropenia, muscle weakness, stunted growth, exercise intolerance and abnormal skeletal structures. In many cases, it results in stillbirth. It is strongly related to mutations in the tafazzin gene, also known as TAZ. Currently only symptomatic treatment exists, and no definite cure has been developed for Barth syndrome.
Read Also: CRISPR Used for the First Time to Treat a Blind Patient
Researchers at Boston Childrens Hospital have proposed gene therapy as a potential treatment method to inhibit processes that lead to heart failure. The researchers conducted the study on mouse models with Barth syndrome.
A research to better understand Barth syndrome was conducted in 2014 by William Pu, MD and colleagues at Boston Childrens Hospital. Together, they created heart on chip models of Barth syndrome by using cardiac myocytes derived from patients with TAZ mutation. This led the researchers to discover the correlation between Barth syndrome and dysfunction. When the defective mutated TAZ myocytes was replaced by healthy TAZ gene myocytes, the cardiac dysfunction was spontaneously corrected.
Pu and colleagues realized that in order to fully understand the effects of Barth syndrome on the system, an animal body was crucial. Attempts at creating a whole body model had previously been done, but had not been successful.
The Beatson Institute for Cancer Research in the U.K has recently been successful in creating mouse models of Barth syndrome. Two categories of these mouse models were created, in the first category TAZ gene was deleted throughout the whole system whereas in the second category of mouse models ha TAZ gene deleted only from the cardiac myocytes.
The mouse models with whole body TAZ deletion died before birth mostly due to hypotonic weak musculature. However, some of the mice survived and developed cardiomyopathy, similar to the dilated cardiomyopathy in humans. The hearts left ventricle had thinner walls and dilated substantially which decreased the systolic pressure resulting in decreased cardiac output.
In those mice with deleted TAZ in heart muscle cells, all subjects survived but had cardiomyopathy issues and reduced cardiac output. Under electron microscope, the heart muscles were found to have abnormal structures and poor organization.
Read Also:UC Berkeley Researchers Restore Vision in Mice Through Gene Insertion
Using gene therapy, the researchers replaced the TAZ gene by administering a gentically engineered virus subcutaneously or intravenously. Whole body TAZ deletion mice survived to an average life span of healthy mice. It successfully prevented cardiac dysfunction in all mice models.
Only when more than 70 percent cardiac myocytes had taken up the modified TAZ gene, significant improvement was seen.
The problem is that neutralizing antibodies to the virus develop after the first dose, said Pu. Getting enough of the muscle cells corrected in humans may be a challenge.
Post introduction of TAZ gene corrected cells, the major problem was seen in sustaining the levels of modified gene cells. In comparison to cardiac myocytes, the number of corrected gene cells in skeletal muscles declined progressively.
https://www.sciencedaily.com/releases/2020/03/200309165231.htm
Doctors Investigate CRISPR Gene-Editing for Treatment of Sickle Cell Disease
Herpes Could Finally Be Cured With CRISPR According to Study
CRISPR Prevents Liver Disease In Mice Before Birth
Study Shows That CRISPR-Edited T Cells for Cancer Treatment Are Safe and Long-Lasting
See more here:
Correcting Barth Syndrome With Gene Therapy - Gilmore Health News
- Patient Dies of Acute Liver Failure After Treatment With Sareptas DMD Gene Therapy Elevidys - CGTLive - March 19th, 2025
- Patient dies following muscular dystrophy gene therapy, Sarepta reports - The Associated Press - March 19th, 2025
- Duchenne patient dies after receiving Sarepta gene therapy - March 19th, 2025
- Liver Failure-Associated Death Reported in Patient Treated With Sarepta Gene Therapy Elevidys - MedCity News - March 19th, 2025
- DoD grant funds Hollings researcher's idea to pursue gene therapy for cancer - Medical University of South Carolina - March 19th, 2025
- Recon: Sarepta reports death of teen who received Duchenne gene therapy; Novartis to slash 427 jobs while revamping cardiovascular business -... - March 19th, 2025
- Data Gaps Leave Long-Term Impact of Ex Vivo Gene Therapy in DMD Uncertain - AJMC.com Managed Markets Network - March 19th, 2025
- CHO Plus Obtains U.S. Patent for Improved Production of Viral Vectors for Gene Therapy - Business Wire - March 19th, 2025
- Sarepta Shares Fall on Report of Patient Death After Gene Therapy - Bloomberg - March 19th, 2025
- Hologen AI commits up to $430M to help take MeiraGTx's Parkinson's gene therapy through phase 3 and beyond - Fierce Biotech - March 19th, 2025
- Duchenne patient on Sareptas gene therapy dies - The Business Journals - March 19th, 2025
- Im Unstoppable: New gene therapy cures first New Yorker of sickle cell anemia - PIX11 New York News - March 19th, 2025
- Boost in cancer treatment: PGI working on lab for stem cell, gene therapies - The Times of India - March 19th, 2025
- Man Cured Of Sickle Cell Disease In New York Thanks To New Gene Therapy - Forbes - March 19th, 2025
- Sarepta says teen died after its gene therapy treatment By Reuters - Investing.com - March 19th, 2025
- Innovative Gene Therapy Approach Drives Buy Rating for Insmed in DMD Treatment - TipRanks - March 19th, 2025
- Sarepta says patient dies after treatment with gene therapy - TradingView - March 19th, 2025
- Sarepta tumbles after patient dies following gene therapy treatment - TradingView - March 19th, 2025
- MeiraGTx teams with cryptic AI startup, co-founded by Eric Schmidt, to advance Parkinson's gene therapy - Endpoints News - March 19th, 2025
- Sickle cell anemia patient reunites with Long Island doctors whose gene therapy treatments made him symptom-free - Newsday - March 19th, 2025
- Extracellular vesicles for the delivery of gene therapy - Nature.com - March 9th, 2025
- Around the Helix: Cell and Gene Therapy Company Updates March 5, 2025 - CGTLive - March 9th, 2025
- Inside the secret island where wealthy people go to alter their DNA - Daily Mail - March 9th, 2025
- Regenerons Gene Therapy DB-OTO Trial Shows Promising Hearing Improvement - The Hearing Review - March 9th, 2025
- Global Cell and Gene Therapy Manufacturing Market to Reach ~USD 10 Billion by 2032 | DelveInsight - GlobeNewswire - March 9th, 2025
- College Station gene therapy company partners with nonprofit to develop treatments for rare diseases - KBTX - March 9th, 2025
- World Hearing Day 2025: Looking Back at Progress in Gene Therapy - CGTLive - March 9th, 2025
- Reflecting on a milestone year for cell and gene therapies - Pharmaceutical Technology - March 9th, 2025
- Q&A: Whats Next for Hemophilia Gene Therapy? | Newswise - Newswise - March 9th, 2025
- 'Llife-changing' gene therapy in London partially restores CT child's sight - CT Insider - March 9th, 2025
- The Genesis of Cell Therapy: Bridging Traditional Pharmacology and Gene Therapy - Technology Networks - March 9th, 2025
- Regenxbio at TD Cowen Conference: Gene Therapy Advancements - Investing.com - March 9th, 2025
- Anova Announces First Patient Enrolled to Phase 1/2a Study of DB107 for the Treatment of High-Grade Gliomas - Business Wire - March 9th, 2025
- Apertura Gene Therapy Supports the Broad Institute in Development of Gene Therapy for Prion Disease Using Engineered AAV Capsid Targeting TfR1 for CNS... - March 9th, 2025
- Gene therapy research offers hope for people with chronic kidney disease - Medical Xpress - January 6th, 2025
- Sangamo Therapeutics to Regain Full Rights to Hemophilia A Gene Therapy Program Following Pfizers Decision to Cease Development of Giroctocogene... - January 6th, 2025
- JCR Pharmaceuticals and Modalis Therapeutics Announce Transition to the Next Phase of Joint Research Agreement for Development of Novel Gene Therapy -... - January 6th, 2025
- Gene therapy targets the retina to treat eye disease - Nature.com - January 6th, 2025
- Sangamos Stock Plummets as Pfizer Axes Hemophilia Gene Therapy Pact - BioSpace - January 6th, 2025
- How Increased Use of Gene Therapy Treatment for Sickle Cell Disease Could Affect the Federal Budget - Congressional Budget Office - January 6th, 2025
- The Future of Regulatory Processes in Cell and Gene Therapy - Pharmaceutical Executive - January 6th, 2025
- CGTLive's 2024 Pillars of Progress: Most-Watched Conference Interviews - CGTLive - January 6th, 2025
- Pfizer cuts losses on near-approval hemophilia gene therapy, adding to troubled Sangamo's woes - Fierce Biotech - January 6th, 2025
- JCR Pharmaceuticals and Modalis Advance Joint Gene Therapy Research - TipRanks - January 6th, 2025
- JCR and Modalis Advance Joint Gene Therapy Research - TipRanks - January 6th, 2025
- Novartis Gene Therapy Shows Promise in Treating SMA - Yahoo Finance - January 6th, 2025
- Gene Therapy Market to Hit Valuation of US$ 42.26 Billion By 2033 | Astute Analytica - Yahoo Finance - January 6th, 2025
- Novartis gene therapy helps children with rare muscle disorder in study - Reuters - January 6th, 2025
- Capricor Puts Rolling BLA for DMD Cardiomyopathy Cell Therapy Deramiocel in Front of the FDA - CGTLive - January 6th, 2025
- Positive data could expand use of Novartis gene therapy for SMA - Yahoo Finance - January 6th, 2025
- Sangamo spirals after Pfizer halts hemophilia A gene therapy partnership - MM+M Online - January 6th, 2025
- Cell Therapy and Gene Therapy CDMO Market to Reach USD 11.11 Billion by 2030 | Discover Growth Trends and Insights | Valuates Reports - PR Newswire - January 6th, 2025
- Struggling With Adoption, Sickle Cell Gene Therapy Manufacturers Embrace CMS Model - News & Insights - January 6th, 2025
- Sangamo Therapeutics to Regain Rights to Gene Therapy Program from Pfizer - Contract Pharma - January 6th, 2025
- Researchers Create Gene Therapy with Potential to Treat Peripheral Pain ... - December 28th, 2024
- How CRISPR Is Changing Cancer Research and Treatment - December 28th, 2024
- Gene Therapy Shows Long-Term Vision Benefits in Rare Eye Disease - December 28th, 2024
- 100 cell and gene therapy leaders to watch in 2025 - December 28th, 2024
- Can a new gene therapy reverse heart failure? - Futurity - December 28th, 2024
- Sustained visual improvements in LHON patients treated with AAV gene therapy - Medical Xpress - December 28th, 2024
- Nebraska Medicine administers novel gene therapy to first hemophilia ... - December 28th, 2024
- Gene Therapy for Cardiomyopathies Presents Promising Alternative to Current Treatment - Managed Healthcare Executive - December 28th, 2024
- Stem Cell Transplantation Still the Main Treatment Option for Beta-Thalassemia - Medpage Today - December 28th, 2024
- Caribou Overhyped Gene-Therapy Testing, Investor Class Suit Says - Bloomberg Law - December 28th, 2024
- WuXi AppTec sells off cell and gene therapy operations in US, UK - FirstWord Pharma - December 28th, 2024
- Top 5 Print Publication Articles of 2024 - Managed Healthcare Executive - December 28th, 2024
- Gene Therapy Shows Long-Term Vision Benefits in Rare Eye Disease - Medpage Today - December 28th, 2024
- UPenn gene therapy pioneers biotech gets $34 million in funding - The Philadelphia Inquirer - December 28th, 2024
- PHC Corporation to present LiCellGrow at Advanced Therapies Week 2025 - Drug Target Review - December 28th, 2024
- The Evolution of Cell & Gene Therapy: Development and Manufacturing Insights and the Role of CDMOs - Pharmaceutical Technology Magazine - December 28th, 2024
- Pig kidney transplants, new schizophrenia drug: Here are 5 of the biggest medical breakthroughs in 2024 - ABC News - December 28th, 2024
- Cell Therapy Manufacturing Trends And Advancements Continuing In 2025 - BioProcess Online - December 28th, 2024
- Can Gene Therapy Treat Chronic Pain? - LabRoots - December 28th, 2024
- Driving innovation: India's foray into gene and cell therapies - The Economic Times - December 28th, 2024
- Governor Hochul Celebrates the Opening Of New York's First Cell and Gene Therapy Hub at Roswell Park Comprehensive Cancer Center in Buffalo - PR Web - December 19th, 2024
- GenSight Biologics Provides Update on Regulatory Discussions and Financial Situation - Business Wire - December 19th, 2024
- Atsena completes dosing in part A of X-linked retinoschisis gene therapy trial - Healio - December 19th, 2024
- Astellas and Sangamo Therapeutics Announce Capsid License Agreement to Deliver Genomic Medicines for Neurological Diseases - StreetInsider.com - December 19th, 2024
- Ring Therapeutics lays off just under half of staff in 2nd wave of cuts this year, CEO set to step down - Fierce Biotech - December 19th, 2024
- Gov. Hochul celebrates opening of first cell and gene therapy hub in NYS - WIVB.com - News 4 - December 19th, 2024