NCT05225051

N- Homocysteinylated Huntingtin in Huntington's Disease

N-homocysteinylated Huntingtin in Huntington's Disease

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 32 (estimated)
• Sponsor: Central Hospital, Nancy, France · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Conditions

• Huntington Disease

Interventions

Type	Name	Description
OTHER	skin biopsy	skin biopsy

Timeline

• Start date: 2022-04-01
• Primary completion: 2023-05-01
• Completion: 2023-05-01
• First posted: 2022-02-04
• Last updated: 2022-03-09