News

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…

Poorer motor control associates with greater cognitive difficulties in people with Friedreich’s ataxia (FA), a study from Belgium suggests. Its researchers also indicate that a recently validated cognitive test, although for a separate disease, ably captures the severity of problems with higher-level thinking in these patients, and could be used in…

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…