BioBlast Pharma Ltd. has announced positive preclinical in vitro and in vivo proof-of-concept study results for its mitochondrial protein replacement therapy drug candidate (BB-FA) for Friedreich's Ataxia.

Friedreich's Ataxia is an inherited disorder characterized by progressive deterioration of the muscular and nervous system that begins in the first or second decade of life and results in gait disturbance (ataxia), cognitive impairment, progressive heart disease and diabetes. According to Friedreich's Ataxia Research Alliance (FARA), about 1:50,000 people in the U.S. suffer from Friedreich's Ataxia. Most patients are wheelchair-bound within 15 years of diagnosis.

Most patients do not survive beyond the fourth or fifth decade of life. BB-FA is a proprietary mitochondrial fusion protein which itself is comprised of a trans-activator of transcription peptide (TAT), a heterologous mitochondrial targeting sequence peptide (MTS), and a fully functional frataxin protein, the protein that is otherwise deficient or mutated in the individual with Friedreich's Ataxia.

BB-FA demonstrated efficacy in penetrating mitochondria in several patient cell lines and in two different and well established animal models of Friedreich's Ataxia.

In in-vitro studies performed in Friedreich's Ataxia patients' cells, BB-FA successfully penetrated the mitochondria and restored the damaged mitochondrial functions to close to normal levels both in studies of oxidative stress and in several biochemical functions that involve critical respiratory chain metabolism in a dose-dependent and time-dependent manner.

In two different mouse models, BB-FA rescued both brain and heart tissues, returning their activity to near normal function. BB-FA induced weight gain, prevented the development of heart disease (commonly the cause of death in Friedreich's Ataxia patients) and increased survival. BB-FA is based on BioBlast's innovative mitochondrial protein replacement platform, which has the potential to target more than 100 diseases that are caused by deficient or mutated proteins associated with mitochondrial metabolism.

Results presented at the International Ataxia Research Conference held in Windsor UK.