跳至主要内容
临床试验/NCT06667414
NCT06667414已完成不适用

Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers

Hoffmann-La Roche87 个研究点 分布在 12 个国家目标入组 574 人开始时间: 2024年9月2日最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
574
试验地点
87
主要终点
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles

研究概览

简要总结

For participation in this epidemiological study, a single-day visit at the study site is required. Participants will be recruited from Huntington Disease clinics, and they will be asked to answer questions regarding their demographics, including sex, age, race and ethnicity, and their medical and medication history. At the end of the visit, a blood sample will be drawn to allow testing with a sequencing assay that is specifically designed for phasing single nucleotide polymorphisms (SNPs) on the wild-type Huntington (wtHTT) and mutant Huntington (mHTT) alleles.

研究设计

研究类型
Observational
观察模型
Other
时间视角
Other

入排标准

年龄范围
25 Years 至 60 Years(Adult)
性别
All
接受健康志愿者

入选标准

  • Have signed the Informed Consent Form (ICF)
  • Aged 25 to 60 years, inclusive, at the time of signing the ICF
  • Confirmation of Huntington Disease (HD) gene expansion mutation carrier status
  • Confirmation of Total Functional Capacity (TFC) ≥9 and Total Motor Score (TMS) >6 within 12 months prior to signing the ICF
  • Ability to tolerate blood draws

排除标准

  • 未提供

研究组 & 干预措施

Participants Who Are Huntington Disease Gene Expansion Carriers

结局指标

主要结局

Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles

时间窗: Day 1

次要结局

  • Number of Participants With Selected SNPs According to Their Medical History(Day 1)
  • Number of Participants With Selected SNPs According to Their Medication History(Day 1)
  • Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)(Day 1)

研究者

申办方类型
Industry
责任方
Sponsor

研究点 (87)

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