News

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Friedreich’s ataxia is associated with a chronic inflammatory state, according to the genetic pattern of peripheral blood cells revealed in a research study. The UCLA study is titled “Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients,” and is published in the…

Endoplasmic reticulum stress due to loss of frataxin protein plays a major role in the development of Friedreich’s ataxia and could be targeted for therapy, a study involving fruit flies shows. The study, “Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model…

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases,” appeared in the journal Brain Research. Neurodegenerative diseases typically progress…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The Muscular Dystrophy Association (MDA) awarded 13 grants totaling $2.6 million to promote and support research projects aimed at better understanding and treating muscular dystrophies and related life-threatening diseases, including Friedreich’s ataxia. Five of the new grants were awarded to recognized researchers in the neuromuscular field, and five were granted…

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians in Greece. Both siblings have musculoskeletal deformities and are wheelchair-bound. The study, “Clinical management of Friedreich’s Ataxia: a report…

Compounds similar to the chemical methylene blue, which has been shown to have therapeutic benefits in several diseases, were seen to increase frataxin levels and the production of mitochondria in Friedreich’s ataxia (FA) cells. The study, “Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…