Data Readout from Potentially Pivotal Phase 2/3 INAD Trial Expected 1H ‘01; Phase 2 ALS and Pivotal Phase 2/3 Friedreich’s Ataxia Trial Readouts Expected by Year-End

LOS ALTOS, Calif., Feb. 11, 2021 (GLOBE NEWSWIRE)​. RT001 Clinical Program Highlights: Friedreich’s Ataxia (FA) – Enrollment was completed in the ongoing pivotal Phase 2/3 trial of RT001 in FA in late 2020. Data from this trial is expected to read out by the end of 2021. Proof-of-concept for RT001 in FA was demonstrated in the company’s previously completed Phase 1/2 placebo-controlled trial. FA is a rare, debilitating, life-shortening pediatric neurodegenerative disease. Like INAD, FA qualifies for RPD designation and a RPD voucher from FDA.

Future Prospects of Gene Therapy for Friedreich’s Ataxia

Ocana-Santero, G.; Díaz-Nido, J.; Herranz-Martín, S.; Int. J. Mol. Sci. 2021, 22, 1815. doi:10.3390/ijms22041815 

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.