Huntington's Disease

What is Huntington’s Disease?

Huntington's Disease (HD) is a rare hereditary condition diagnosed in as many as 20,000 people in the United States. Also known as Huntington's chorea, this condition is caused by a defective gene that makes an abnormal protein. Accumulation of this protein in the brain leads to the degeneration of brain tissue known as the basal ganglia, which are involved in motor control, cognition and sensory pathways.

Adult-onset HD usually occurs during the third and fourth decades of life, but it rare cases, it can occur in individuals far younger or older. The clinical course of HD ranges from 10-20 years, depending on the extent and severity of complications.

Clinical manifestations of HD include:

  • "Chorea" or involuntary, jerky movements of the head, limbs or body
  • Personality changes
  • Mood swings
  • Depression
  • Dementia

Testing for HD takes place either when symptoms appear or if there is a family history. Diagnosis of HD is done through a combination of:

  • Genetic testing
  • CT scan
  • MRI

Current Standard of Care

There is presently no cure for HD. Treatments are available that may address some of the symptoms associated with HD. Generally, movement problems have been treated with speech, occupational and other therapies. Consultation with a dietician may be helpful in managing the diet. Patients with HD often need more calories to maintain weight.

Research and Development for HD Patients

There are a number of potential treatments in development for HD. These include efforts by pharmaceutical companies as well as clinical researchers supported by the National Institutes of Health and by foundations such as the Huntington Study Group.

Raptor is collaborating with Centre Hospitalier Universitaire (CHU) d'Angers of France, to study its RP103 (DR Cysteamine) for potential treatment of HD. Raptor and CHU d’Angers initiated a Phase 2 study in HD patients in October 2010.

Results of preclinical studies suggest that cysteamine may be effective in increasing levels of neurotrophic factors that are known to be deficient in HD patients (Borrell-Pages 2006).

Additional Resources

 

Phase 2 Clinical Trial of DR Cysteamine in Huntington's Disease Commenced

96 patients will be enrolled for an 18-month placebo-controlled study