FDA grants accelerated approval for first treatment for Barth syndrome
The U.S. Food and Drug Administration has granted accelerated approval to Forzinity (elamipretide) injection as the first treatment for Barth syndrome.
Sep 25, 2025
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Lipid Metabolism, Inborn Errors
MeSH tree: C16.320.565.398
Precision genetic target provides hope for Barth syndrome treatment
Researchers at The Hospital for Sick Children (SickKids) have uncovered a promising new therapeutic target for Barth syndrome, a rare genetic condition with no current cure.
Sep 3, 2025
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Can immune cells stave off devastating neurodegenerative diseases? Scientists aim to find out
An evolving form of therapy to treat devastating neurodegenerative disorders by injecting fresh immune cells—microglia—directly into the brain, promises a new lease on health by slowing the progression of mind-robbing conditions.
Statistical tool reveals hidden genetic pathways in complex diseases
A collaboration among Rice University, Baylor College of Medicine and Texas Children's Hospital's Jan and Dan Duncan Neurological Research Institute (NRI) has produced a breakthrough in how to study and classify complex diseases.
Aug 20, 2025
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Dual vector gene therapy trial offers hope for Tay-Sachs and Sandhoff diseases
Patients in a Phase I/II clinical trial conducted by UMass Chan Medical School of a dual vector gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases, exhibited a biochemical correction of the ...
Aug 15, 2025
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Replacing brain immune cells in mice slows neurodegeneration: Technique may help with diseases like Alzheimer's
Tay-Sachs and Sandhoff diseases, genetic disorders affecting the brain, have no effective treatment and are typically fatal within the first years of life.
Aug 6, 2025
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Gene therapy trial offers breakthrough for rare genetic disorder
A study evaluating a pioneering lentivirus (LV)-mediated gene therapy trial for classical Fabry disease showed promising results over five years, indicating a potential breakthrough in treatment for the genetic disorder.
Jul 25, 2025
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First oral drug shows promise for Barth syndrome heart and muscle symptoms
Researchers at Tohoku University have discovered that an oral drug called MA-5 can improve both heart and muscle problems in Barth syndrome, a rare genetic disorder affecting 1 in 300,000 births worldwide with no current ...
Jul 1, 2025
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For children with a rare form of dementia, music could be a powerful therapy tool
When we hear the word "dementia," we usually think of memory loss in older adults. But there's another, much rarer form of the disease that strikes far earlier in life—childhood dementia, also known as Batten disease.
May 12, 2025
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Gene therapy delivered early can help children with rare neurodegenerative disease retain motor and cognitive functions
If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic origin which leads to the ...
Apr 24, 2025
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