News

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

The U.S. Food and Drug Administration (FDA) has approved a Phase 1/2 clinical trial for LX2006, Lexeo Therapeutics’ investigational gene therapy for heart disease in people with Friedreich’s ataxia (FA). Lexeo submitted the trial for approval under an investigational new drug (IND) application based on promising preclinical data. The…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

The U.S. Food and Drug Administration (FDA) will maintain a hold on the clinical development of CTI-1601, Larimar Therapeutics’ experimental treatment for Friedreich’s ataxia (FA), which was originally paused for safety concerns and a request for more data. Larimar is now analyzing data from…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

The National Ataxia Foundation (NAF) is accepting applications for funding of research projects on ataxia — a lack of motor coordination that also affects people with Friedreich’s ataxia — from minority students pursuing doctoral studies. Eligible students include U.S. citizens or permanent residents from underrepresented minorities who are…

Reata Pharmaceuticals has initiated a rolling submission of a new drug application seeking U.S. approval of its experimental oral therapy omaveloxolone for people with Friedreich’s ataxia (FA). In a rolling submission, companies can submit individual sections of the application for review by the U.S. Food and Drug Administration (FDA)…

A researcher in Australia has received $250,000 from the Friedreich’s Ataxia Research Alliance (FARA) to use stem cells to understand the mechanisms behind the progressive loss of proprioception — the perception of the body’s position and movement — in people with Friedreich’s ataxia (FA). The two-year grant was…

Clinical trials are more attractive to people with ataxias — including those with Friedreich’s ataxia (FA) — when they target specific symptoms, such as walking and balance issues; provide potential benefits to patients and others; and cover costs of travel and accommodation, according to a recent study. These were…