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April 3, 2019April 3, 2019

Female Patients and Their Doctors Must Be More Aware of Fabry Symptoms, Treatment, Study Says

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Although most women with Fabry disease have mild but typical manifestations, many are not prescribed enough treatment, including enzyme replacement therapy (ERT), according to a Spanish study. The study, “Clinical ... Read more

March 27, 2019March 27, 2019

Galafold has Positive Effect on Fabry Patients with Amenable Mutations, Study Shows

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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 ... Read more

March 20, 2019March 20, 2019

Fabry Disease More Common Than Previously Thought, Experts Say

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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 ... Read more

March 15, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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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 ... Read more

March 13, 2019March 13, 2019

Galafold Improves Enzyme Activity and Heart Function in Patients With Amenable Fabry Disease Mutations, Study Says

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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 ... Read more

March 13, 2019March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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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 ... Read more

March 6, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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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 ... Read more

February 27, 2019February 25, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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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 ... Read more

February 22, 2019February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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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 ... Read more

February 13, 2019February 13, 2019

Phase 3 Trial Shows Increased Stability of PRX-102 Over Other ERTs for Fabry Disease

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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 ... Read more

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