A phase 1/2, open-label, dose-ascending, multicenter clinical trial set to evaluate LX2006 in patients with Friedreich ataxia (FA) and evidence of cardiomyopathy is currently recruiting.

The trial, initiated on August 24, 2022, aims to enroll 10 patients with a confirmed genetic diagnosis of FA and an onset before 25 years of age.

Additional inclusion criteria include no contraindications to cardiac biopsies, normal liver and kidney function, no evidence of active infection, and protocol-specified ranges for cardiopulmonary exercise testing arm ergometry, antibodies, left ventricular ejection fraction, focal fibrosis, stroke volume index, and left ventricular strain.

The study will assess the safety and tolerability of 2 ascending doses of a single administration of LX2006. The long-term safety and efficacy will be evaluated for an additional 4-year period (estimated study completion date, September 2029).

The primary outcome measures of the trial are treatment-emergent adverse events and treatment-emergent serious events assessed as the change from baseline to the end of year 5 postdose.

Furthermore, the trial will evaluate the change from baseline in peak oxygen consumption, left ventricular mass index, left ventricular ejection fraction, and cardiac fibrosis as measured by cardiac magnetic resonance imaging, as well as the presence and severity of cardiac arrythmias.

The trial excludes patients with uncontrolled diabetes or psychiatric diseases and those with a history of clinically significant lung function abnormality, coronary artery disease or any structural heart or vascular disease other than FA cardiomyopathy, or hemodynamically unstable arrhythmias requiring physician intervention. Moreover, patients who are receiving systemic corticosteroids or other immunosuppressive medications will not be allowed to participate.

Read more about FA clinical trials

LX2006 is an investigational gene therapy that uses an adeno-associated virus to deliver the human frataxin gene to cardiac cells over a 52-week period. By restoring human frataxin levels, LX2006 is expected to improve mitochondrial function.

Currently, there is no treatment for cardiomyopathy in FA, which is estimated to be responsible for 60% of FA-related deaths.


Gene therapy for cardiomyopathy associated with Friedreich’s ataxia. ClinicalTrials.gov. July 6, 2022. Updated March 10, 2023. Accessed March 16, 2023.