Clinical Study to Monitor Plasma Levels of 24OHC in Subject with HD

NCT04257513 | Completed

• 1 other identifier: Chol-HD
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages.

Conditions

Huntington Disease

Keywords

Huntington Disease; Cholesterol

Outcome Measures

Primary Outcomes (1)

• plasmatic 24OHC levels

  Changes in plasmatic 24OHC levels measured

  at baseline and after 2-years follow up visit

Secondary Outcomes (3)

• Changes in the score of the Unified Huntington Disease Rating Scale (UHDRS)

  after 2-years follow up visit

• Changes in score at the Digit Symbol Modalities Test (DSMT)

  after 2-years follow up visit

• Changes in caudate nucleus volume measured at MRI

  after 2-years follow up visit

Study Arms (3)

Healthy controls subjects

Subjects without known family history of HD, or tested negative for the HD expansion mutation.

Diagnostic Test: Brain MRI

Symptomatic HD subjects

Subjects HD gene expansion carriers who have clinical diagnostic motor symptoms of defined HD, and disease stage I to III.

Diagnostic Test: Brain MRI

Presymptomatic HD subjects:

Subjects HD gene expansion carriers who not have clinical diagnostic motor features of HD.

Diagnostic Test: Brain MRI

Interventions

Brain MRI DIAGNOSTIC_TEST

Neurological and Cognitive evaluation; Brain MRI

Healthy controls subjects; Presymptomatic HD subjects:; Symptomatic HD subjects

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

At least 60 subjects (both males and females) will be enrolled in the study. Eligible participants include healthy controls, people who are in the presymptomatic stage of HD, and people with symptomatic HD at different disease stage (I-III).

You may qualify if:

• Symptomatic HD subjects
• Age ≥ 18 years
• Known family history of HD and genetically confirmed disease by direct DNA test (CAG expansion \> 35 repeats)
• Clinical diagnostic motor features of HD, defined as score\> 5 at the motor Unified Huntington Disease Rating Scale (mUHDRS)
• Stage I or II or III HD, defined as UHDRS Total Functional Capacity (TFC) scores between 3 and 13 inclusive (Marder, 2000)
• Presymptomatic HD subjects
• Age ≥ 18 years
• Known family history of HD and genetically confirmed mutation by direct DNA test (CAG expansion \> 35 repeats)
• Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5
• Healthy Subjects
• Age ≥ 18 years
• Absence of known family history of HD or genetically confirmed negative DNA test for HD (CAG expansion ≤ 35 repeats)
• Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5

You may not qualify if:

• Participation in clinical pharmacological trials
• Inability to undergo and tolerate MRI scans (e.g. claustrophobia, severe chorea, MRI-incompatible intrauterine devices, metal implants, ect)
• Inability or unwillingness to undertake any of the study procedures

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: lead
• Istituto Di Ricerche Farmacologiche Mario Negri: collaborator

Study Sites (1)

UOC Genetica Medica e Neurogenetica

Milan, Milano, 20133, Italy

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma

MeSH Terms

Conditions

Huntington Disease

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 31, 2020
• First Posted: February 6, 2020
• Study Start: October 31, 2019
• Primary Completion: March 6, 2023
• Study Completion: June 2, 2023
• Last Updated: November 12, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)