Andrea Lobo,  —

Dosing beings in 2nd patient group in Phase 1/2 trial of gene therapy

A first group of patients has been treated with LX2006, an investigational gene therapy for heart disease in people with Friedreich’s ataxia (FA), in a Phase 1/2 clinical trial and dosing has begun in a second group. LX2006 has been well tolerated and not associated with unexpected…

Short-read genome sequencing test may help diagnose atypical FA

Short-read genome sequencing (SR-GS), a test that can identify difficult-to-detect mutations, may help to correctly diagnose atypical Friedreich’s ataxia (FA) in people whose symptoms and family history are not indicative of FA, a study in Germany shows. The study, “Short-read genome sequencing allows ‘en route’ diagnosis of patients…