THERAPEUTIC FOCUS
Huntington's Disease
Huntington’s disease ("HD") is a genetic neurodegenerative disease characterized by movement disorder, dementia and psychiatric disturbance. Early symptoms might affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination. Later, concentration and short-tem memory diminish, and involuntary movements of the head, trunk and limbs increase. Eventually, the person is unable to care for himself or herself. Death follows from complications including choking, infection or heart failure.
HD is believed to be caused by a genetic mutation of cytosine, adenosine and guanine (CAG) polymorphic trinucleotide repeat located on chromosome 4p16.3. It is believed that there is a direct link between CAG repeat length and age of onset, disease progression and clinical symptoms of HD disease. CAG repeat length can be measured via a genetic blood test.
HD has been diagnosed in approximately 30,000 patients in the U.S. and approximately 40,000 in Europe. Additionally, over 200,000 persons in each of the U.S. and Europe are genetically “at risk” to developing the disease. Onset of symptoms is typically between 30-50 years of age with a typical life expectancy from diagnosis of 10-25 years depending on the CAG repeat length. Patients with late stage disease require continuous nursing care, often in nursing homes, with an estimated annual cost to the U.S. economy of up to $2.5 billion. Presently, there is no effective approved treatment or cure for HD. The potential HD market for a therapeutic in North America and Europe is estimated to be greater than $500 million per year.
Useful Links
The following list contains links to web sites that may be of value or interest. Although these sites have been selected by Amarin they are not operated by Amarin and thus Amarin cannot be responsible for their content. Please refer to individual site publishers for additional information.
The Huntington's Disease Society of America (HDSA)
www.hdsa.org
The Huntington Study Group (HSG)
www.huntington-study-group.org
WEMOVE Organisation
www.wemove.org
