WE45491
Recruiting
Official title: Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers
For participation in this epidemiological(branch of medicine which deals with the incidence, distribution and control of diseases) study, a single-day visit at the study site is required. Participants will be recruited from HD 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 for a single nucleotide polymorphisms (SNPs) on the wild-type Huntington (wtHTT) and mutant Huntington (mHTT) alleles.
SNPs pronounced ‘snips’, are a single-letter spelling difference in a gene. They are common and most don’t change the function of the gene.
We have talked of SNPs before. WAVE Life Sciences was the first company to use this technique in HD trials: Precision 1 and 2 and Select.
Subtype: Observational Biomarker
Primary Intervention: Blood sample
Ages Eligible
for Study:
Sexes Eligible
for Study:
All
Accepts Healthy Volunteers:
No
- 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.
None
LOCATIONS
COUNTRIES
DENMARK
TRIAL SITE: Rigshostalet, Hukommeisesklinkken
Address: Copenhagen, Denmark
GERMANY
TRIAL SITE: Charite, Universitatsmed
Address: Berlin, Germany
TRIAL SITE: Universitätsklinikum Erlangen
Address: Erlangen, Germany
TRIAL SITE: Universitätsklinikum Ulm
Address: Ulm, Germany
ITALY
TRIAL SITE: Fondazione IRCCS Instituto Neurológico Carlo Besta
Address: Milan, Italy
TRIAL SITE: Universita Degli Studi Di Firenze
Address: Florence, Italy
POLAND
TRIAL SITE: Szpital Sw Wojciecha
Address: Gdansk, Poland
TRIAL SITE: Wojskowj Instytut Medycyny Lotniczej
Address: Warsaw, Poland
PORTUGAL
TRIAL SITE: Hospital de Santa Maria – Serviço de Neurologia
Address: Lisbon, Portugal
SPAIN
TRIAL SITE: Hospital Universitário de Badajoz
Address: Badajoz, Spain
TRIAL SITE: Hospital de la Santa Creu i Sant Pau
Address: Barcelona, Spain
TRIAL SITE: Hospital Universitário de Burgos, Servicio de Neurologia
Address: Burgos, Spain
TRIAL SITE: Hospital Ramon y Canal
Address: Madrid, Spain
UK
TRIAL SITE: Birmingham and Solihull Mental Heath Foundation
Address: Birmingham,UK
TRIAL SITE: Addenbrookes Hospital
Address: Cambridge, UK
TRIAL SITE: Hospital for Neurology and Neurosurgery
Address: London, UK
