Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers
Заболявания:
Huntington Disease
Спонсор: Hoffmann-La Roche
Налично на:
БГ
Обобщение
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.
Кой може да участва
Inclusion Criteria:
* 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
Exclusion Criteria:
* None
Места на провеждане
10
Argentina (1)
Hospital Britanico de Buenos Aires
Ciudad Autonoma Buenos Aires
COMPLETED
Австралия (1)
Calvary Health Care Bethlehem
Caulfield South , New South Wales
Канада (1)
University of Alberta
Edmonton , Alberta
Дания (1)
Rigshospitalet, Hukommelsesklinikken
København Ø
Италия (1)
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan , Lombardy
New Zealand (1)
Auckland DHB - Neurlogy Department
Auckland
Полша (1)
Szpital Sw. Wojciecha
Gda?sk
Испания (1)
Hospital Universitario de Badajoz
Badajoz
Великобритания (1)
Birmingham and Solihull Mental Health Foundation NHS Trust