Health TrialsbyHealthPanel

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

ConditionHuntington Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age25-60
SponsorHoffmann-La Roche

About this trial

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

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

None

Trial 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.

Trial design

Design model

Other

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

600 Participants
are grouped into 1 trial group
Group A: Participants Who Are Huntington Disease Gene Expansion Carriers

Trial outcomes

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

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Hoffmann-La Roche

Lead sponsor

Source ClinicalTrials.gov
Apply now