N-homocysteinylated Huntingtin in Huntington's Disease
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 32
- 主要终点
- Huntingtin homocysteinylated level
研究概览
简要总结
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
详细描述
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Factorial
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Huntingtin homocysteinylated level
时间窗: Through study completion, an average of 2 years
measures the interaction between Homocysteine and Huntingtin in fibroblasts
次要结局
- 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)
研究者
RENAUD Mathilde
Principal Investigator
Central Hospital, Nancy, France