On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

If you or someone you know has Fabry disease, you may have heard of Galafold. This is the first and only medicine for Fabry disease that can be taken by mouth. Other treatments for Fabry disease, ...

BioMarin Pharmaceutical is building up its pipeline with the acquisition of Inozyme Pharma in a $270 million deal centered on an enzyme replacement therapy that could become the first FDA-approved ...

Please provide your email address to receive an email when new articles are posted on . Mean maximum ADAMTS13 activity after recombinant ADAMTS13 exceeded 100%. Markedly fewer patients receiving ...

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 ...

For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that must be delivered by injection three-to-six times each week. Currently, ...

A recombinant replacement for the ADAMTS13 protein (Adzynma) missing in congenital thrombotic thrombocytopenic purpura (TTP) restored levels and reduced acute TTP events, according to interim trial ...

WALTHAM, Mass., June 24, 2024 (GLOBE NEWSWIRE) -- Dyne Therapeutics, Inc. (Nasdaq: DYN), a clinical-stage muscle disease company focused on advancing innovative life-transforming therapeutics for ...

uniQure N.V. (NASDAQ:QURE) on Friday released initial safety and exploratory efficacy data from the first cohort of its Phase 1/2a trial of AMT-191, an investigational gene therapy for Fabry disease.