Bioblast Pharma

Hope should not be rare

Mutant protein stabilization

Mutant protein stabilization

Potential in numerous neurological disorders

The mutant protein stabilization therapeutic approach is based on the novel IV application of a small, repurposed molecule.

Mutant unstable cellular proteins are the cause of several genetic diseases known as PolyA/PolyQ diseases, including oculopharyngeal muscular dystrophy (OPMD), and spinocerebellar ataxia type 3 (SCA3, also called Machado Joseph disease). These pathological proteins aggregate within cells, eventually leading to cell death. Preclinical data to date from both cell and animal models have indicated that this platform has the potential to prevent mutant protein aggregation in humans.

We are currently in Phase 2 development of our first investigational new drug, trehalose 90 mg/mL IV solution for OPMD and SCA3 with the potential to treat a number of other devastating PolyA/PolyQ diseases. Based on the positive safety and efficacy signals in patients with OPMD from the open-label HOPEMD Phase 2 study clinical data, we intend to conduct a double-blind, placebo-controlled Phase 2b study. This study will further guide the design of a pivotal Phase 3 trial.

Learn about the pipeline therapy trehalose 90 mg/mL IV solution