According to a recent interview with Francesco Saccà, MD, PhD, an associate professor of neurology at the University of Naples, the phase 2 study assessing the use of dimethyl fumarate (DMF), an approved product for relapsing multiple sclerosis and psoriasis in Europe, in patients with Friedreich ataxia (FA), potentially anticipates some data, at least the primary and many of the secondary endpoints, by September or October of this year. Saccà also noted that potentially by the end of the year, investigators will close the entire analysis.
The study, which two sequential 12-week phases, assesses whether DMF can increase the expression of the FXN gene and frataxin protein and ameliorate in-vivo detectable measures of mitochondrial dysfunction in FA. FA, which is typically associated with several developmental features, is caused by a genetic deficiency of frataxin, a small, nuclear-encoded mitochondrial protein. Frataxin deficiency leads to impairment of iron-sulphur cluster synthesis, and consequently ATP production abnormalities.
