Frequency of selected single nucleotide polymorphisms in phase with the mutant and wild-type HTT alleles in huntington disease gene expansion carriers

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00035137

Enrollment

600

Registered

2024-09-24

Start date

2024-09-24

Completion date

Unknown

Last updated

2026-02-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G10

Interventions

Group 1: The study is a blood sample collection and primary data collection to assess the frequency of selected single nucleotide polymorphisms in phase with the mutant and wild-type htt alleles in hu

Eligibility

Sex/Gender

All

Age

25 Years to 60 Years

Inclusion criteria

Inclusion criteria: Must have signed the ICF Confirmation of HD gene expansion mutation carrier status Confirmation of TFC = 9 and TMS > 6 within 12 months prior to signing the ICF Ability to tolerate blood draws

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
Primary objective: To characterize the frequency and geographical distribution of selected SNPs in HDGECs. Primary endpoint: Frequencies of selected SNP alleles in phase with the expanded CAG and wtHTT alleles in HDGECs Abbreviations: CAG = cytosine-adenine-guanine; HDGECs = HD gene expansion carriers; HTT = huntingtin gene; SNP = single nucleotide polymorphism; wt = wild-type. For participation in this epidemiological 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. Participants must sign an Informed Consent Form (ICF) before undergoing any study-related procedures or data collection. After initial written informed consent has been obtained, the participant will be assigned a participant identification number. 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 SNPs on the wtHTT and mHTT alleles. If the results of the epidemiological study show that participants might meet eligibility criteria for future Roche interventional HD clinical trials when and if they become available, the Principal Investigator or related site personnel may offer the opportunity to the participants to take part in them. In that case, detailed information will be provided to the participants, and they will be asked to sign a separate ICF specific to a particular study. Approximately 600 ambulatory men and women aged 25 to 60 years old (inclusive) who carry the 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 will be enrolled. The estimated duration of study participation is expected to be 1 day for each participant. This includes all assessments	—

Measure

Time frame

Primary objective: To characterize the frequency and geographical distribution of selected SNPs in HDGECs. Primary endpoint: Frequencies of selected SNP alleles in phase with the expanded CAG and wtHTT alleles in HDGECs Abbreviations: CAG = cytosine-adenine-guanine; HDGECs = HD gene expansion carriers; HTT = huntingtin gene; SNP = single nucleotide polymorphism; wt = wild-type. For participation in this epidemiological 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. Participants must sign an Informed Consent Form (ICF) before undergoing any study-related procedures or data collection. After initial written informed consent has been obtained, the participant will be assigned a participant identification number. 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 SNPs on the wtHTT and mHTT alleles. If the results of the epidemiological study show that participants might meet eligibility criteria for future Roche interventional HD clinical trials when and if they become available, the Principal Investigator or related site personnel may offer the opportunity to the participants to take part in them. In that case, detailed information will be provided to the participants, and they will be asked to sign a separate ICF specific to a particular study. Approximately 600 ambulatory men and women aged 25 to 60 years old (inclusive) who carry the 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 will be enrolled. The estimated duration of study participation is expected to be 1 day for each participant. This includes all assessments

—

Secondary

Measure	Time frame
Secondary objective: To identify demographic characteristics associated with HD haplotypes Secondary endpoint: Demographic data including sex, age, ethnicity/race, and medical and medication history	—

Countries

Argentina, Australia, Canada, Germany, New Zealand, United Kingdom, United States

Contacts

Public ContactYury Seliverstov

Universitätsklinikum Ulm, Poliklinik für Neurologie, Huntington-Zentrum

ambulanz-ulm@euro-hd.net+49 731 500 63080

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 7, 2026