Active clinical trials for "Huntington Disease"

The purpose of this study is to identify health management concerns and needs of family members of asymptomatic and symptomatic persons with mutation in the gene for Huntington Disease (HD).

The Pilot Study, Making HD Voices Heard, will ask people living with HD to report what they experience and how they function.

The study is a single, cross-sectional cognitive interview of FuRST 2.0, functional rating scale, administered to forty Huntington's Disease Gene Expansion Carriers (HDGECs) and potentially, their companions (the companion's participation is optional in this study). The scale will be tested as a patient reported outcome (PRO) in that the information will come directly from the HDGEC participant or the HDGEC participant together with his/her companion through self-report. The purpose is to identify real or potential comprehension or usage problems with scale items, response options, instructions and disclaimer statement, which are all components of the FuRST 2.0 scale. Through a structured cognitive interview with the HDGEC participants or the HDGEC participants together with their companions, followed by qualitative analysis, the final phrasing of the individual scale items, response options, instructions and disclaimer statement for the scale will be generated. Depending on the results of this study, an additional round of cognitive pre-testing may be required in a separate study.

The overall objective of this study is to identify a 60 minute cognitive battery, for subsequent use in clinical trials, that detects cognitive deficits in early HD and late pre-manifest HD compared to controls, and that has a potential to show drug induced improvements.

Action slowing has been demonstrated in many diseases. Parkinson's disease (PD) and Huntington's disease (HD) are two neurodegenerative diseases affecting the basal ganglia, particularly the medial globus pallidus, and the clinical expression of these two diseases is characterized by a combination of motor and cognitive disorders, but with two opposing patterns of dysfunction. Action slowing has been demonstrated in both of these diseases and has been extensively studied in Parkinson's disease, suggesting a perceptive-cognitive origin. Far fewer studies have been conducted in Huntington's disease. However, all of these studies were performed with different methodologies in small cohorts and the value of the proposed study is to use a validated and standardized computerized mental chronometry paradigm, providing a better understanding of the mechanisms of action slowing in these two diseases and to more clearly define a disease-specific profile.

Behavioural disorders are very common right from the initial stage of dementia and contribute to loss of autonomy. Behavioural dysexecutive disorders have a particular status due to their prevalence and their diagnostic importance, as they often constitute the initial symptoms of Frontotemporal Dementia (FTD), Semantic Dementia (SD) and Huntington's disease (HD) and they are classically more frequent in vascular dementia (VaD) than in Alzheimer's disease (AD). The presence of these disorders at the stage of Mild Cognitive Impairment (MCI) has only been partially evaluated and would increase the risk of progression to dementia. These classical data are based on non-standardized assessments and non-validated diagnostic criteria. The Groupe de Reflexion pour l'Evaluation des Fonctions EXécutives (GREFEX) has developed a standardized assessment tool for behavioural dysexecutive disorders, the Behavioural Dysexecutive Syndrome Inventory (BDSI) and has validated diagnostic criteria for this syndrome.

Huntington's disease (HD) is an inherited neurodegenerative disease for which there are no existing disease-modifying treatments. Repair-HD is an EU FP7 consortium that aims to establish all the preclinical requirements for transplantation of stem cell-derived neurons in HD in order to replace those lost to the disease process. These requirements include the generation of new clinical assessments for detailed monitoring of patients with HD who have undergone cell replacement therapy. This protocol describes the beta testing of a new clinical assessment battery: Core Assessment Protocol for Intrastriatal Transplantation in HD version 2 (CAPIT-HD beta / CAPIT-HD2). CAPIT-HD beta represents a substantial revision of a previous CAPIT-HD battery published over 20 years ago, which is in need of updating in order to accommodate knowledge from clinical transplant studies over this time and to take advantage of technological advances in patient assessment. HD is a complex disorder in which there is relentless deterioration of motor, cognitive and behavioural functions, usually from mid-life onwards. The original CAPIT battery aimed to capture elements of change in all three domains, but was based predominantly on subjective semi-quantitative assessment tools that have poor inter-rater reliability. Moreover, a number of deficits, such as impairments in social cognition, were not recognised when the original CAPIT-HD battery was constructed, so we have developed novel assessments of these deficits, some of which are included in CAPIT-HD beta. The beta testing will take place in established HD clinical centres in Cardiff, Manchester, Paris, and Munster by teams of researchers who are experienced in leading clinic research in HD. Patients with early to moderate HD will be assessed at baseline, and at one and twelve months later, to assess the reliability and sensitivity of the CAPIT-HD beta battery. Arrangements for data storage and analysis are in place.

A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages.

The purpose of this study is to define the natural history and experiences of people who are at risk for developing Huntington's disease but who do not know their genetic status.

The purpose of this project is to study Huntington's disease by metabolomic approach.