News

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…

Neurofilament light chain may be a new blood biomarker to monitor disease severity and response to treatment among people with Friedreich’s ataxia (FA), particularly younger ones, a study suggests. The study, “Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia,” was published…

Chondrial Therapeutics has merged with Zafgen, giving rise to Larimar Therapeutics, which will continue working to advance CTI-1601 as a possible frataxin replacement therapy for Friedrich’s ataxia (FA). Larimar’s arrival came about five months after Zafgen and Chondrial announced they had entered into a merger agreement. “We…

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.

Children younger than age 8 with symptoms of Friedreich’s ataxia are at a higher risk of faster disease progression and earlier loss of walking abilities, a single-center natural history study in Belgium reported. The findings were consistent with previous results from another natural history study, and may help to guide treatment…