Researchers are aiming to block the gene that causes Huntington's Disease by using a medical breakthrough that was awarded a Nobel Prize in 2006.
Huntington's Disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. Symptoms of the disease typically become noticeable at middle age but can start from infancy to old age. The earliest symptoms of HD are a general lack of coordination and an unsteady gait. As the disease advances, uncoordinated, jerky body movements become more apparent, along with a decline in mental abilities and behavioral and psychiatric problems. Physical abilities are gradually impeded until coordinated movement becomes very difficult, and mental abilities generally decline into dementia. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years after symptoms begin. There is no cure or treatment for HD, and full-time care is required in the later stages of the disease.
Researchers at Alnylam Pharmaceuticals will use an experimental process known as RNA interference, which has been shown to work against Huntington's disease in laboratory tests with mice and other animals, with tests on humans to begin as early as 2012, reports The Wall Street Journal.
According to Alnylam in pre-clinical studies, ALN-HTT, an RNAi therapeutic, was well tolerated following administration to the brain and was shown to silence the huntingtin gene. Silencing the huntingtin gene also translated into a therapeutic effect in animal models, including improvement in motor behavior, which is a hallmark of this debilitating and fatal disease.
In an interview with Wall Street Journal, Alnylam president Barry Greene said, "What we do is shut off the spigot. We stop the creation of a protein." The huntingtin gene causes proteins to develop and clump to brain cells causing them to misfire and eventually die thus causing symptoms of the disease.
ALN-HTT is being developed in collaboration with Medtronic and CHDI Foundation for delivery to the central nervous system using an implantable infusion system developed by Medtronic. CHDI is a not-for-profit virtual biotech company that is exclusively dedicated to rapidly discovering and developing therapies that slow the progression of Huntington's disease.
There are approximately 30,000 people in the U.S. with Huntington's Disease and it is estimated that another 150,000 people in that country are at risk of developing it.