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This study aims to monitor plasma levels of 24OHC and assess the brain with MRI in people with Huntington's disease (HD). It enrolled symptomatic or presymptomatic people with genetically confirmed Huntington's disease, along with healthy participants (aged 18 and older). It was a study without an assigned phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: Symptomatic HD subjects 1. Age ≥ 18 years 2. Known family history of HD and genetically confirmed disease by direct DNA test (CAG expansion \> 35 repeats) 3. Clinical diagnostic motor features of HD, defined as score\> 5 at the motor Unified Huntington Disease Rating Scale (mUHDRS) 4. 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 1. Age ≥ 18 years 2. Known family history of HD and genetically confirmed mutation by direct DNA test (CAG expansion \> 35 repeats) 3. Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5 Healthy Subjects 1. Age ≥ 18 years 2. Absence of known family history of HD or genetically confirmed negative DNA test for HD (CAG expansion ≤ 35 repeats) 3. Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5 Exclusion Criteria: 1. Participation in clinical pharmacological trials 2. Inability to undergo and tolerate MRI scans (e.g. claustrophobia, severe chorea, MRI-incompatible intrauterine devices, metal implants, ect) 3. Inability or unwillingness to undertake any of the study procedures