Clinical Proof of Concept—Friedreich’s ataxia and Infantile Neuroaxonal Dystrophy

In 2016, Retrotope completed its first human trial in patients with Friedreich’s ataxia (FA), an orphan disease with a mitochondrial deficit driven by lipid peroxidation.  Following four weeks of dosing a small group of patients (12 on active compound and 6 on placebo), we demonstrated that our first drug candidate, RT001, is safe and well-distributed.  After only one month, RT001 also showed early evidence of efficacy across four different disease progression measures, one with statistical significance, in a trial not designed for such an effect.  Retrotope now seeks to proceed with longer, larger trials in FA, with a goal of drug approval as early as 2020 in this fatal, untreated disease.  Pending funding, Retrotope is ready to start this additional pivotal trial in Friedreich’s ataxia.

 In late 2018, by taking advantage of FDA and other incentives to pursue orphan diseases, Retrotope launched a late stage (Phase 2/3 pivotal) trial in the ultra rare form of pure neurodegeneration, Infantile Neuroaxonal Dystrophy (INAD).Last year, Retrotope published a case report on the halting of progression and possible reversal of this ultra-rare disease. Further, first-ever halting of progression in two Compassionate Use patients has enabled Retrotope to agree with the FDA on a single pivotal trial to approval in this ultra-rare disease.