Active clinical trials for "Huntington Disease"

Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder typically becoming noticeable in middle age. It is clinically characterized by progressive involuntary movements (bradykinesia and hyperkinesia), neuropsychiatric disturbances (depression, irritability), and cognitive impairments progressing to dementia. The striatum (caudate and putamen) is the primary area of neuronal degeneration in HD. Today, there is no validated curative treatment. HD affects approximately 6 000 patients in France and more than 30 000 individuals are considered at risk for this disease. While the disease gene is discovered and we are capable to do a predictive genetic diagnosis for asymptomatic patients, there is no clinical or biological way to predict the age of onset or the progressive profile of patients. One of the fundamental characteristics of this disease is its extreme variability from one patient to other both in terms of their evolution and their onset of action. Thus, this inter-individual variability severely limits the genetic counselling and complicating the neurological assessment. Increasingly, it has been assumed that modifier genes may be the source of this inter-individual variability and that their identification could help the understanding and prediction of disease progression. Given that the mutant protein is ubiquitous, the molecular dysfunction of neurons could be found in peripheral cells from the bloodstream and will be more accessible to investigation.

Later Stage HD Assessments (LSA) is an observational, multinational study aiming at developing two assessments that can be used to measure critical milestones and events during the later stages of Huntington's disease (HD). An important aspect of the evaluation will be to assess whether the assessments can be administered to a companion either in-person or remotely (i.e. by phone contact with the companion). Therefore, these assessments will be evaluated for their internal consistency, reliability and validity. Once established, these assessments may be incorporated into a large scale, global observational study of HD and/or other HD clinical studies as well as use them for planning clinical trials.

REGISTRY is a multi-centre, multi-national, prospective, observational study of Huntington's disease (HD) with a control group of volunteers. It is an open-ended study which will include as many eligible participants as willing to participate. The goal of the project is to collect longitudinal data on the phenotypical characteristics of HD gene mutation carriers regardless of whether they display clinical symptoms and signs of the disease and of individuals who are part of an HD family (irrespective of their mutation carrier status), in order to: obtain natural history data on a wide spectrum of HD mutation carriers and individuals who are part of an HD family relate phenotypical characteristics with genetic factors ('genetic modifiers') with data derived from the study of body fluids (blood, urine - 'wet biomarker') and imaging data ('dry biomarker') expedite identification and recruitment of participants for clinical trials develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of premanifest and manifest HD which may also be potential outcome measures for use in future clinical trials and clinical care. plan for future research studies (observational and interventional trials aimed at better symptom control or aimed at slowing or postponing the onset and progression of HD).

The principal means of measuring motor impairment in Huntington disease (HD) is the Unified Huntington's Disease Rating Scale (UHDRS) total motor score, which is subjective, categorical, requires significant training to administer correctly, and only captures impairments in clinic. In this Direct to Phase II SBIR we will develop a wearable sensor system for objective, sensitive, and continuous assessment of Huntington's chorea during activities of daily living. The developed technology could be used clinically to detect changes in motor function in response to medications, or could be used scientifically to expedite and reduce the cost of early stage pharmaceutical clinical trials.

Huntington's disease often brings together 3 types of symptoms at one time or another of the disease during its evolution: motor, cognitive and psychiatric. Management requires comprehensive and multidisciplinary health, social or medico-social support. Its development generates additional difficulties for professionals who very often qualify this disease as "very complex" because it leads to a deep and severe impairment of physical and intellectual capacities. The sick person gradually loses their autonomy and becomes dependent for the acts of daily life, hence the choice of this disease for our study. Our study is focused on the quality of life at home of patients followed by the Angers Reference Center, "expert" on neurogenetic pathologies. Studies focusing on patients' quality of life at home have so far never been undertaken for a rare neurodegenerative disease like Huntington's disease.

The purpose of this study is to collect prospective data from individuals who are part of a Huntington Disease (HD) family, in order to relate phenotypes between individuals and families with each other and genetic factors in order to learn more about HD, develop potential treatments for HD, and to plan for future research studies of experimental drugs aimed at slowing or postponing the onset and progression of HD.