N-homocysteinylated Huntingtin in Huntington's Disease
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Enrollment
- 32
- Primary Endpoint
- Huntingtin homocysteinylated level
Study Overview
Brief Summary
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
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
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Factorial
- Primary Purpose
- Basic Science
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Huntingtin homocysteinylated level
Time Frame: Through study completion, an average of 2 years
measures the interaction between Homocysteine and Huntingtin in fibroblasts
Secondary Outcomes
- Blood levels of B9, B12(Through study completion, an average of 2 years)
- Blood levels of homocysteinemia(Through study completion, an average of 2 years)
Investigators
RENAUD Mathilde
Principal Investigator
Central Hospital, Nancy, France