Bioblast Pharma

Hope should not be rare

SCA3 patients

People living with SCA3

Committed to rare diseases so patients can have hope

What is spinocerebellar ataxia type 3 (SCA3, also called Machado-Joseph disease or MJD)?

SCA3 is an adult-onset neurological PolyQ disease that begins between the ages of 20 and 50. For many patients, the main symptoms are unsteady gait and reduced coordination (cerebellar ataxia), eye movement limitations (external ophthalmoplegia), difficulty with speech (dysarthria) and swallowing (dysphagia), rigidity and weakness of limb muscles, and impaired sensation due to neuropathy. The combination of symptoms and severity of each may differ from individual to individual, but in the majority of cases, the disorder leads to marked disability.

SCA3 is a hereditary disease caused by an expansion of a gene called ATXN3. This mutation is transmitted in a dominant fashion (ie, there's a 50% chance that an affected parent may transmit a genetic disorder to each offspring) and can be diagnosed by a molecular blood test. The disease is prevalent in people of Portuguese ancestry but has been recorded worldwide.

Currently there are no effective pharmacotherapeutic interventions for this condition.

Learn about a SCA3 Phase 2 clinical trial for trehalose 90 mg/mL IV solution Learn about patient advocacy groups for people living with OPMD