N- Homocysteinylated Huntingtin in Huntington's Disease (HO-HD)

Central Hospital, Nancy, France

Status: Unknown

Conditions: Huntington Disease

Treatments: Other: skin biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT05225051

2021-A00407-34

Details and patient eligibility

About

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

Full 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

Enrollment: 32 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Factorial Assignment

Masking: None (Open label)

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32 participants in 3 patient groups

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

Experimental group

Description:

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

Treatment:

Other: skin biopsy

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

Experimental group

Description:

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

Treatment:

Other: skin biopsy

human control cell lines, Unmutated Huntingtin

Experimental group

Description:

human control cell lines, Unmutated Huntingtin

Treatment:

Other: skin biopsy