Foundation-Directed Therapeutic Development in Huntington’s Disease

Abstract

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease that devastates patients and their families. It is caused by expansion of the CAG repeat in the huntingtin gene (<i>HTT</i>) and characterized pathologically by the loss of pyramidal neurons in several cortical areas, striatal medium spiny neurons, and hypothalamic neurons. Clinically, a distinguishing feature of the disease is uncontrolled involuntary movements (chorea) accompanied by progressive cognitive and psychiatric impairment. Currently there are no effective disease-modifying treatments for HD, although antidepressant and antipsychotic medications are typically utilized to manage HD symptoms, in addition to the only approved drug for the treatment of chorea in HD, tetrabenazine (TBZ). CHDI is a not-for-profit organization focused solely on HD. Herein we describe our foundation-directed therapeutic development efforts highlighting our collaborations and internal programs that are in various stages of development