Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease severity, a Phase 3 trial shows. The findings of the study, “Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry…
Two of the world’s top experts in Fabry disease, geneticists Dominique Germain of France and Gheona Altarescu of Israel, say the number of people born with the disorder may be significantly more than once believed. Both made presentations this month at the 2nd International Congress on Advanced Treatments…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart function in patients with amenable Fabry disease mutations, according to clinical results. The study, “Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year,” was…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
PRX-102 (pegunigalsidase alfa) is safe for the treatment of patients with Fabry disease and has better stability over other available therapies, according to interim data from a Phase 3 clinical trial. The most recent results from the trial were discussed during the 15th Annual WORLDSymposium 2019, recently…
Treatment with the gene therapy candidate AVR-RD-01 showed sustained efficacy and was well-tolerated in Fabry disease patients regardless of prior enzyme replacement therapy (ERT), according to preliminary results of a Phase 1 and a Phase 1/2 trial. Avrobio’s AVR-RD-01 is a gene therapy that uses hematopoietic…
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