News

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…

The Friedreich’s Ataxia Center of Excellence of the Children’s Hospital of Philadelphia (CHOP) has been awarded a total of $1.275 million to advance research and clinical care of people with Friedreich’s ataxia (FA). The grant came from the Friedreich’s Ataxia Research Alliance (FARA), the Hamilton and Finneran families, and…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

A gene therapy that delivers a healthy version of the FXN gene can correct heart problems in a new mouse model with cardiac-specific symptoms of Friedreich’s ataxia (FA), a study reports. This animal model more accurately mirrors the early cardiac abnormalities seen in FA…

Exicure recently discussed preclinical research data and the next steps in developing XCUR-FXN, its investigational antisense oligonucleotide (ASO) therapy for Friedreich’s ataxia (FA), in a live webcast. After initiating investigational new drug (IND)-enabling studies of XCUR-FXN in late 2020 — intended to support regulatory clearance of clinical…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

With backing from a petition that is now circulating online, the Friedrich’s Ataxia Research Alliance (FARA) will ask Reata Pharmaceuticals and the U.S. Food and Drug Administration to make omaveloxolone (RTA 408) available to people living with Friedrich’s ataxia (FA) — for whom no approved treatments currently exist.

Leriglitazone, an oral treatment candidate for Friedreich’s ataxia (FA), is well-tolerated and can significantly prevent ataxia worsening and iron buildup in the brain, according to top-line data from a Phase 2 trial. The proof-of-concept study, called FRAMES (NCT03917225), also demonstrated that the therapy was able to improve a series…

Larimar Therapeutics completed dosing for its single-ascending dose (SAD) Phase 1 clinical trial of CTI-1601, a modified version of frataxin, in the treatment of Friedrich’s ataxia (FA), the company announced. A safety review committee cleared the trial to continue after evaluating preliminary blinded data from each of the…