Pfizer and REGENXBIO have established a new collaboration to develop gene therapies specifically designed to treat people with Friedreich’s ataxia. Under the terms of the agreement, Pfizer will be able to use REGENXBIO’s proprietary NAV adeno-associated virus (AAV) system to deliver genes that could help…
News
Friedreich’s ataxia caused by GAA repeat expansion and point mutations — a rare origin of the disease — is present in the Brazilian population and should be considered for diagnostic testing and genetic counseling in the country, a study shows. The study, “Frequency and Genetic Profile of Compound…
Biomarkers for Friedreich’s ataxia (FA) may come from measurements of frataxin (FXN) levels in red blood cells and energy production in calf cells, imaging approaches in the nervous system and the heart, as well as markers of nerve cell damage, according to a review of ongoing work. The research,…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
Seelos Therapeutics received a Notice of Allowance from the United States Patent and Trademark Office covering the use of SLS-005 (trehalose) for the treatment of Friedreich’s ataxia. A Notice of Allowance allows Seelos Therapeutics to finalize a patent for SLS-005 for the treatment of the disease.
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
High uptake of iron and copper by cells, caused by an insufficiency of frataxin — the protein lacking in Friedreich’s ataxia (FA) — leads to a decrease in the levels of these trace metals in the blood, a study shows. The researchers say this finding may have application…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
Treatment with methylprednisolone, an anti-inflammatory medication, had no evident benefit in children and adults with Friedreich’s ataxia (FA) enrolled in a pilot clinical trial conducted at the Children’s Hospital of Philadelphia (CHOP). Oral therapy with methylprednisolone failed to improve patients’ overall mobility and neurological function, although three children…
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