News

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,…

Over about two weeks, more than 74,000 people worldwide have signed a petition from the Friedreich’s Ataxia Research Alliance (FARA) requesting that omaveloxolone (omav) be made available to people with Friedreich’s ataxia (FA) as quickly as possible. The petition specifically asks Reata Pharmaceuticals to submit a new drug…

Leriglitazone, an oral treatment candidate for Friedreich’s ataxia (FA), can increase frataxin levels and reduce neuronal degeneration in cell and animal models of the disease, a study found. Along with promising clinical findings from a Phase 2 clinical trial (NCT03917225), the results support the use of leriglitazone, and the…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Lexeo Therapeutics recently launched with an initial funding of $85 million to develop gene therapies for Friedreich’s ataxia (FA) and other disorders. The proceeds will support the clinical development of three gene therapy programs, including an anticipated Phase 1 trial this year to test LX2006 for FA-associated heart…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…