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Completed

NCT Number: NCT06667414

Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers

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.

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Key information

Conditions

Huntington Disease Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Chorea Cognition Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dyskinesias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Mental Disorders Movement Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases

Age range

25 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Britanico de Buenos Aires, Ciudad Autonoma Buenos Aires, Argentina

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: Day 1

Secondary outcomes

  1. Number of Participants With Selected SNPs According to Their Medical History

    Time frame: Day 1

  2. Number of Participants With Selected SNPs According to Their Medication History

    Time frame: Day 1

  3. Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)

    Time frame: Day 1

Sponsors and collaborators

Lead sponsor

Hoffmann-La Roche

Industry

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Oct 31, 2024
Registry last updated
Jul 28, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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