News

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

Six months of treatment with interferon-gamma, known as IFN-gamma, is safe and leads to significant improvements in walking skills and stance in people with Friedreich’s ataxia (FA), according to a small study in Turkey. However, no significant improvements were observed in other areas of motor coordination, such as sitting, upper…

Lexeo Therapeutics has entered an agreement with Adverum Biotechnologies to license Adverum’s intellectual property rights and pre-clinical data of LX2006, an investigational gene therapy for Friedreich’s ataxia (FA). Lexeo will continue to advance the gene therapy program through pre-clinical studies that support an investigational new drug (IND) application,…

GeneDx has expanded its list of genetic tests to include the analysis of expansion repeats that underlie adult-onset ataxias, including Friedreich’s ataxia (FA), spinocerebellar ataxia, and other forms of inherited ataxias. With this expansion, GeneDx — a subsidiary of BioReference Laboratories, part of the OPKO Health company —…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and fast track designations to Retrotope’s investigational therapy RT001 for the treatment of Friedreich’s ataxia (FA), the company announced in a press release. RT001 also received orphan drug designation from the European Medicines Agency (EMA)…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Real-life stories from people affected by Friedreich’s ataxia (FA) — featured in a new educational resource —capture the challenges of living with a complex and largely misunderstood disorder, and help to pinpoint areas of improvement needed in disease diagnosis and management. Called “Open Door,” this series of booklets was…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…