N- Homocysteinylated Huntingtin in Huntington's Disease

Not Applicable

• Conditions: Huntington Disease
• Interventions: Other: skin biopsy

• Registration Number: NCT05225051
• Lead Sponsor: Central Hospital, Nancy, France

Brief Summary

Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts:

1. presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin),

2. symptomatic HD individuals with motor UHDRS \> 5 (Mutated Huntingtin)

3. 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 Timeline

• Study First Submitted: 2022-01-11
• Study First Submitted QC: 2022-01-25
• Study First Posted: 2022-02-04
• Status Verified: 2022-03
• Last Update Submitted: 2022-03-08
• Last Update Posted: 2022-03-09
• Study Start: 2022-04-01
• Primary Completion: 2023-05-01
• Study Completion: 2023-05-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 32

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: FACTORIAL

Arm && Interventions

Group	Intervention	Description
symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)	skin biopsy	symptomatic HD individuals with motor UHDRS \> 5 (Mutated Huntingtin)
presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)	skin biopsy	presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)
human control cell lines, Unmutated Huntingtin	skin biopsy	human control cell lines, Unmutated Huntingtin

Primary Outcome Measures

Name	Time	Method
Huntingtin homocysteinylated level	Through study completion, an average of 2 years	measures the interaction between Homocysteine and Huntingtin in fibroblasts

Secondary Outcome Measures

Name	Time	Method
Blood levels of B9, B12	Through study completion, an average of 2 years	Blood levels of B9, B12
Blood levels of homocysteinemia	Through study completion, an average of 2 years	Blood levels of homocysteinemia