News

Despite some benefits seen in clinical measures like cardiac health and reports by Friedreich’s ataxia (FA) patients of lesser fatigue and better function upon treatment with idebenone in clinical trials, a new two-month study found little difference between those given the therapy and those on placebo. The study, “…

Takeda and StrideBio have established a collaboration to develop new, more effective adeno-associated viruses (AAV) to be used as vehicles for in vivo delivery of gene therapies for Friedreich’s ataxia (FA) and other diseases. “StrideBio’s expertise and unique gene therapy technology holds great potential for significantly advancing…

Adding a molecule that specifically binds iron in mitochondria to sun creams could help protect the skin cells of Friedreich’s ataxia (FA) patients from their increased sensitivity to damage caused by ultraviolet A (UVA) radiation. Besides FA patients, this discovery might benefit people living with other disorders also characterized…

A new data-sharing platform recently launched by the Critical Path Institute’s (C-Path) Data Collaboration Center (DCC) and the Friedreich’s Ataxia Research Alliance (FARA) is designed to ultimately lead to the development of effective treatments for Friedriech’s ataxia (FA). Called the Friedreich’s Ataxia Integrated Clinical…

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…

Minoryx Therapeutics announced it will soon launch a Phase 2 trial in Spain to evaluate its lead therapeutic candidate, MIN-102, in patients with Friedreich’s ataxia. The study (2018-004405-64), named FRAMES, was approved by the Spanish Agency of Medicines and Medical Devices (AEMPS) and is expected to initiate patient…

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…