Clinical trial NCT06667414: Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers
Official title: Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Huntington Disease
Lead sponsor: Hoffmann-La Roche
Sponsor class: INDUSTRY
First posted: 2024-10-31
Enrollment: 600
Sex: ALL
Minimum age (years): 25
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This epidemiological study will be conducted in ambulatory men and women aged 25 to 60 years old (inclusive) who carry the Huntington Disease (HD) gene expansion and meet the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score (TMS) and Total Functional Capacity (TFC) criteria for HD Integrated Staging System (HD-ISS) Stages 2-3.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles
timeFrame: Day 1
Secondary outcomes:
measure: Number of Participants With Selected SNPs According to Their Medical History
timeFrame: Day 1
measure: Number of Participants With Selected SNPs According to Their Medication History
timeFrame: Day 1
measure: Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)
timeFrame: Day 1
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: Uab Medicine
state: Alabama
city: La Jolla
country: United States
facility: University of California San Diego
state: California
city: Sacramento
country: United States
facility: University of California Davis Medical System
state: California
city: Englewood
country: United States
facility: CenExel Rocky Mountain Clinical Research, LLC
state: Colorado
city: Tampa
country: United States
facility: University of South Florida
state: Florida
city: Chicago
country: United States
facility: Northwestern University
state: Illinois
city: Iowa City
country: United States
facility: University of Iowa Hospitals and Clinics
state: Iowa
city: Baltimore
country: United States
facility: John Hopkins University School of Medicine
state: Maryland
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center
state: Massachusetts
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Kirkland
country: United States
facility: EvergreenHealth Investigational Drug Services
state: Washington
city: Ciudad Autonoma Buenos Aires
country: Argentina
facility: Hospital Britanico de Buenos Aires
city: Caulfield South
country: Australia
facility: Calvary Health Care Bethlehem
state: New South Wales
city: Westmead
country: Australia
facility: Westmead Hospital
state: New South Wales
city: Parkville
country: Australia
facility: Royal Melbourne Hospital
state: Victoria
city: Edmonton
country: Canada
facility: University of Alberta
state: Alberta
city: Halifax
country: Canada
facility: Centricity Research
state: Nova Scotia
city: Toronto
country: Canada
facility: North York General Hospital
state: Ontario
city: Montreal
country: Canada
facility: McGill University
state: Quebec
city: Erlangen
country: Germany
facility: Universitätsklinikum Erlangen, Abteilung Molekulare Neurologie
city: Ulm
country: Germany
facility: Universitätsklinikum Ulm
city: Christchurch
country: New Zealand
facility: New Zealand Brain Research Institute
city: Wellington
country: New Zealand
facility: Wellington Hospital
city: Gda?sk
country: Poland
facility: Szpital Sw. Wojciecha
city: Warszawa
country: Poland
facility: Wojskowy Instytut Medycyny Lotniczej
city: Birmingham
country: United Kingdom
facility: Birmingham and Solihull Mental Health Foundation NHS Trust
city: Cambridge
country: United Kingdom
facility: Addenbrookes Hospital
city: London
country: United Kingdom
facility: National Hospital For Neurology and Neurosurgery
Study officials:
affiliation: Hoffmann-La Roche
name: Clinical Trials
role: STUDY_DIRECTOR
References: