N- Homocysteinylated Huntingtin in Huntington's Disease

N-homocysteinylated Huntingtin in Huntington's Disease

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05225051

Acronym

HO-HD

Enrollment

Registered

2022-02-04

Start date

2022-04-01

Completion date

2023-05-01

Last updated

2022-03-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Huntington Disease

Keywords

homocysteinemia

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

Interventions

OTHERskin biopsy

skin biopsy

Study design

Allocation

NON_RANDOMIZED

Intervention model

FACTORIAL

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

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

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
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

Contacts

Primary ContactMathilde Renaud, MD, PhD

m.renaud2@chru-nancy.fr03 83 15 36 22

Backup ContactNathalie Keil

n.keil@chru-nancy.fr03 83 15 52 79

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026