Bioblast Pharma

Hope should not be rare

OPMD patients

People living with OPMD

Committed to rare diseases so patients can have hope

What is oculopharyngeal muscular dystrophy (also known as OPMD)?

OPMD is a PolyA muscular disease that affects mainly the muscles of the eyes, throat (pharynx), and eventually the limbs.

For many patients, the onset of OPMD generally occurs in the 4th or 5th decade of life. The first symptom is usually drooping of the eyelids (ptosis) followed by difficulties in swallowing (dysphagia). Limb muscles become affected later in the disease process. Muscles of the face and eyes may also be affected. Because of the swallowing difficulties, the disease can be associated with marked weight loss, malnutrition, and recurrent bouts of aspiration pneumonia.

OPMD is a genetic disorder that is usually transmitted in a dominant fashion (ie, there's a 50% chance that an affected parent may transmit a genetic disorder to each offspring). The genetic defect is in a gene that encodes a protein called PABPN1. This mutation can be diagnosed by a molecular blood test. The disease is more frequent in French Canadians in Quebec, Canada, Hispanics in the US, and Bukharan Jews, but OPMD has been recorded in numerous other locales and countries around the world.

Currently there is no pharmacotherapeutic intervention that can alleviate the symptoms of the disease or slow its progression, which leads to marked reduction in quality of life. Various surgical approaches can temporarily improve swallowing. Ptosis can also be surgically corrected. These procedures do not affect the progression of the disease and the symptoms usually reappear.

Learn about the HOPEMD Phase 2 OPMD clinical trial for trehalose 90 mg/mL IV solution Learn about patient advocacy groups for people living with OPMD