N- Homocysteinylated Huntingtin in Huntington's Disease

Study Overview
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Brief Summary
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Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts: presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin), symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) human control cell lines, unmutated Huntingtin

Detailed Description
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Prospective inclusions of 32 subjects with 24 symptomatic HD patients and 8 presymptomatic HD patients.Rationale: This is a pilot study in humans. Over a period of 2 years, the potential recruitment should make it possible to include 32 patients This number will make it possible to calculate the overall variability of the dosage and to have statistics of position and dispersion in the 2 subgroups identified. Controls: Eight standardized cell lines from human fibroblasts

Official Title
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N-homocysteinylated Huntingtin in Huntington's Disease

Conditions
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Huntington Disease

Intervention / Treatment
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* Other: skin biopsy


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient with the symptomatic or presymptomatic Huntington's disease gene (CAG >= 36) Molecularly confirmed Huntington's disease Patient 18 years of age and older Person affiliated to or benefiting from a social security assurance Exclusion Criteria: Person deprived of liberty by a judicial or administrative decision, persons subject to psychiatric care pursuant to Articles L. 3212-1 and L. 3213-1 Pregnant woman, parturient or nursing mother Women of childbearing potential who do not have effective contraception Intellectual deterioration preventing the understanding of research

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Factorial Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)<br>presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) | Other: skin biopsy<br>* skin biopsy<br>|
| Experimental: symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)<br>symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) | Other: skin biopsy<br>* skin biopsy<br>|
| Experimental: human control cell lines, Unmutated Huntingtin<br>human control cell lines, Unmutated Huntingtin | Other: skin biopsy<br>* skin biopsy<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Huntingtin homocysteinylated level | measures the interaction between Homocysteine and Huntingtin in fibroblasts | Through study completion, an average of 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Blood levels of B9, B12 | Blood levels of B9, B12 | Through study completion, an average of 2 years | 
| Blood levels of homocysteinemia | Blood levels of homocysteinemia | Through study completion, an average of 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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homocysteinemia