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Prospective Huntington At Risk Observational Study

2014-08-27 03:55:34 | BioPortfolio

Summary

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.

Description

Huntington's disease (HD) is a genetic disease characterized by changes in movement and behavior. To date, little research has been done on individuals who are at risk for developing the disease. PHAROS is an observational study designed to monitor people who are at risk for developing HD, and to survey their attitudes and beliefs about their "at-risk" status. Investigators hope this study will help answer some important questions about HD, such as: 1.) What are the earliest signs of HD and when do they start? 2.) How accurate are the measures that physicians use in detecting the onset of HD? 3.) What factors influence the age at which a person carrying the HD gene develops the illness? and 4.) In a group of people at risk for HD, how many will develop signs of the illness over a minimum three-year period of observation?

Participants in the study will be evaluated every 9 months (for 5 years) using the Unified Huntington's Disease Rating Scale (UHDRS)--a clinical tool which looks at movement, psychological and behavioral function. The participants will also be asked to complete surveys about their mood, life events, and attitudes or beliefs about being at risk for HD. A blood sample, taken at the beginning of the study, will be confidentially tested to determine if the participant has the abnormal gene for HD. Neither the participant nor any of the PHAROS physicians or coordinators will learn the results of individual gene tests.

The scientists hope that this study will provide essential information for future trials of experimental drugs for HD.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Huntington Disease

Location

University of Alabama
Birmingham
Alabama
United States

Status

Active, not recruiting

Source

Huntington Study Group

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:55:34-0400

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A Study Evaluating if Pridopidine is Safe, Efficacious, and Tolerable in Patients With Huntington's Disease

The purpose of the study is to collect and assess long term data on the safety, tolerability, and efficacy of pridopidine in patients with Huntington's disease (HD).

A Safety and Efficacy Study of Dimebon in Patients With Huntington Disease

The purpose of this study is to determine if Dimebon is safe and effective for the treatment of cognitive impairment in Huntington disease.

PubMed Articles [14212 Associated PubMed Articles listed on BioPortfolio]

Enhanced retinal responses in Huntington's disease patients.

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Assessing Decline: Visualising Progression in Huntington's Disease using a Clinical Dashboard with Enroll-HD Data.

In Huntington's disease (HD), it remains unclear how symptom severity and rate of symptomatic change relates to age and CAG repeat number (CAGn). It is often difficult for clinicians to assess whether...

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Medical and Biotech [MESH] Definitions

A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER DISEASE; PARKINSON DISEASE; HUNTINGTON DISEASE; and TYPE 2 DIABETES MELLITUS.

Membrane glycosylphosphatidylinositol-anchored glycoproteins that may aggregate into rod-like structures. The prion protein (PRNP) gene is characterized by five TANDEM REPEAT SEQUENCES that encode a highly unstable protein region of five octapeptide repeats. Mutations in the repeat region and elsewhere in this gene are associated with CREUTZFELDT-JAKOB DISEASE; FATAL FAMILIAL INSOMNIA; GERSTMANN-STRAUSSLER DISEASE; Huntington disease-like 1, and KURU.

A phenyl-piperidinyl-butyrophenone that is used primarily to treat SCHIZOPHRENIA and other PSYCHOSES. It is also used in schizoaffective disorder, DELUSIONAL DISORDERS, ballism, and TOURETTE SYNDROME (a drug of choice) and occasionally as adjunctive therapy in MENTAL RETARDATION and the chorea of HUNTINGTON DISEASE. It is a potent antiemetic and is used in the treatment of intractable HICCUPS. (From AMA Drug Evaluations Annual, 1994, p279)

A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)

A protein that is highly expressed in the nervous system as well as other tissues; its size and structure vary due to polymorphisms. Expanded CAG TRINUCLEOTIDE REPEATS have been identified in the Huntingtin (HD) Gene of patients with HUNTINGTON DISEASE and are associated with abnormal PROTEIN AGGREGATES. Huntingtin interacts with proteins involved in a variety of gene expression and cellular processes; it is also essential for embryonic development.

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