Forest Ray PhD,  —

Scientists on either side of the Atlantic have teamed up, through the new Oxford-Harrington Rare Disease Centre (OHC), to address unmet needs in rare disease research and deliver “major clinical impact” to patients. And now, the international collaboration between the University of Oxford, in England, and the Harrington Discovery…

The nonprofit EndFA has launched a free mobile phone and tablet app to help connect, empower, and better inform people with Friedreich’s ataxia (FA) wherever they live. With the mission to “Power the Cure!,” the FA App is designed to connect members of the FA community to each other…

A clinical trial will assess whether supplementation with calcitriol, the active form of vitamin D, can boost frataxin production in people with Friedreich’s ataxia (FA). The Biochemistry of Oxidative Stress Group (BOSG) at the Biomedical Research Institute of Lleida (IRBLleida) and the University of Lleida, in Spain, announced their…

The U.S. Food and Drug Administration (FDA) has given rare pediatric disease and orphan drug designations to LX2006, Lexeo Therapeutics‘ investigational gene therapy for people with Friedreich’s ataxia (FA). The designations each provide benefits meant to ease the therapy’s path through development. Rare pediatric disease status is provided to…

People with Friedreich’s ataxia (FA) are encouraged to enroll in three clinical trials evaluating the effects of dietary supplements on exercise, the safety and efficacy of the experimental therapy vatiquinone, and the utility of wearing sensors to monitor the disease’s progression and severity. The Friedreich’s Ataxia Research Alliance…

The U.S. Food and Drug Administration (FDA) has asked Reata Pharmaceuticals to request a preliminary meeting to discuss submitting a new drug application (NDA) for omaveloxolone, an investigational therapy for Friedreich’s ataxia (FA). Reata was due to hold a Type C meeting (unrelated…

Healx has partnered with the Friedreich’s Ataxia Research Alliance (FARA) and Ataxia UK to combine its drug discovery expertise with the organizations’ patient and scientific insights in order to develop potential treatments for Friedreich’s ataxia. “We believe that partnership and collaboration — sharing knowledge and resources —…

Stealth BioTherapeutics is planning a Phase 2a clinical trial of elamipretide (SS-31) as a treatment for people with vision loss and/or heart disease associated with Friedreich’s ataxia (FA). The company expects to use data from this study — planned to start later this year — in designing a pivotal…

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…

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…

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.

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…

The Friedreich’s Ataxia Research Alliance (FARA) has shared a list of three clinical studies and one global registry that are open and enrolling people with Friedreich’s ataxia (FA) in the search for more effective therapies. This rare disease is caused by abnormally low levels of a protein called…

Lifetime TV‘s October 2 special edition of “Behind the Mystery: Rare and Genetic” focuses on Friedreich’s ataxia (FA) through the stories of a woman living with the rare disease and a medical researcher studying it. “Behind the Mystery” educates viewers on rare and genetic disorders and seeks…

An initiative called the Friedreich’s Ataxia Accelerator has been launched by the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University to develop therapeutic strategies for people with the disorder. Notably, the Accelerator will cultivate a community of researchers focused on understanding the molecular mechanisms…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Team Gleason and CureDuchenne have teamed with Google’s Project Euphonia to make automated speech recognition more accessible to people with neurological disorders, including Friedreich’s ataxia. Although automated speech recognition increasingly powers voice-activated technologies like Google Assistant, it struggles to adapt to changes in speech that accompany certain…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The Committee for Orphan Medicinal Products (COMP), an arm of the European Medicines Agency (EMA), has issued a positive opinion about granting orphan drug status to CTI-1601, Larimar Therapeutics’ investigational treatment for Friedreich’s ataxia (FA). The company now is expecting…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Among people with Friedrich’s ataxia (FA), being older, having a more severe condition, and a point mutation raise the risk for developing diabetes, according to a recent study. The study, “Prevalence, Risk, and Management of Diabetes in Friedreich’s Ataxia,” was presented at the 80th…

The CRISPR-Cas9 gene editing technique safely removed the gene expansion that causes Friedrich’s ataxia (FA), allowing for normal frataxin levels and more functional mitochondria in cells taken from patients, an early study reported. This work, and further experiments in mice, supports the potential of a stem cell approach to treating…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH) — two key components of axons (nerve cell extensions responsible for transmitting nerve signals) — show promise as biomarkers of neurodegeneration in Friedrich’s ataxia (FA), a study reports. The study, “NfL…