News

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…

Simultaneous suppression of two histone methyltransferases (HMTs) significantly increased the activity of the FXN gene in cells derived from people with Friedreich’s ataxia (FA) and in a mouse model of the disease. However, this boost in FXN activity failed to raise the levels of its resulting protein, frataxin,…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

Reata Pharmaceuticals, along with a group of key opinion leaders and the Friedreich’s Ataxia Research Alliance (FARA), have proposed the launch of a study to confirm the effectiveness of omaveloxolone (RTA 408), the company’s investigational oral therapy for Friedreich’s ataxia (FA). If accepted by the…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

A collaborative effort once again will fund a grant program that provides fitness-promoting adaptive cycling equipment to Friedreich’s ataxia (FA) patients. A partnership of the Friedreich Ataxia Research Alliance (FARA), the Burrows Hill Foundation, Catrike, the Texas Irish Foundation, and UVA Sun Systems continues to support…

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…

A safety and tolerability study of Larimar Therapeutics’ investigational therapy CTI-1601 has started dosing a third and final group of Friedreich’s ataxia (FA) patients, after a temporary pause due to the COVID-19 pandemic. “We’re pleased that our Phase 1 clinical trial has resumed and we…

Measuring blood levels of two proteins, N-terminal pro-brain natriuretic peptide (NT-proBNP) and troponin, may provide useful information about heart health in people with Friedreich’s ataxia (FA), a study suggests. The study, “Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia,” was published in the …

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…