Last updated: September 5, 2022
Sponsor: Leiden University Medical Center
Overall Status: Active - Recruiting
Phase
N/A
Condition
Dyskinesias
Treatment
N/AClinical Study ID
NCT05534139
P19.030
Ages 21-75 All Genders Accepts Healthy Volunteers
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
- Native Dutch/Flemish speaker
- Ability to undergo MRI scanning;
- Written informed consent must be obtained from the participant. And in addition: If the participant is a pre-manifest HD gene carrier:
- CAG expansion ≥ 40;
- UHDRS Total Motor Score (TMS) ≤ 5;
- Total Functional Capacity (TFC) = 13;
- Diagnostic Confidence Score < 4. If the participant is an early-manifest HD gene carrier:
- CAG expansion ≥ 36;
- Diagnostic Confidence Score = 4;
- HD stage I: TFC scores between 11 and 13 inclusive. If the participant is a moderate manifest HD gene carrier:
- CAG expansion ≥ 36;
- Diagnostic Confidence Score = 4;
- HD stage II: TFC scores between 7 and 11 inclusive. If the participant is a control subject:
- Partner/spouse of a patient not at risk of HD OR sibling with genetic test resultsavailable that show a normal CAG repeat length for both HTT alleles (<36);
- No other known cognitive, neurological or psychiatric disorders.
Exclusion
Exclusion Criteria:
- Additional major comorbidities not related to HD (e.g. cardiovascular diseases,coagulopathy, hypertension, diabetes mellitus, and/or other neurological disorders);
- History of severe head injury;
- Status of the participant after brain surgery;
- Past erythrocyte transfusions;
- Use of investigational drugs or participation in a clinical drug trial within 30 daysprior to study visit;
- Current intoxication, drug or alcohol abuse or dependence;
- Pregnancy;
- Inability to understand the information about the protocol;
- Severe physical restrictions (completely wheelchair dependent);
- Severe chorea that, in the investigator's judgment, precludes the patient'sparticipation in and completion of the MRI and/or lumbar puncture.
- Contra-indication to MRI scanning, such as:
- Claustrophobia;
- Pacemakers and defibrillators;
- Nerve stimulators;
- Intracranial clips;
- Intraorbital or intraocular metallic fragments;
- Cochlear implants;
- Ferromagnetic implants;
- Hydrocephalus pump;
- Intra-utrine device (not all types);
- Permanent make-up;
- Tattoos above the shoulders (not all).
- Contraindications for a lumbar puncture, including:
- Screening blood test results outside normal ranges(white cell count, neutrophilcount, lymphocyte count, hemoglobin, platelets, Prothrombin time (PT), activatedpartial thromboplastin time (APTT), C-reactive protein (CRP) and serum ferritin)if only marginally decreased or increased this will be decided by the clinicalPI;
- Signs and symptoms of increased intracranial pressure which will be confirmed onthe 7T MRI (T1 and FLAIR scan) or by a fundoscopy;
- Local infections of the skin;
- Use of anti-coagulant drugs within the last 14 days prior lumbar puncture.
Study Design
Total Participants: 90
Study Start date:
August 11, 2021
Estimated Completion Date:
August 31, 2024
Study Description
Connect with a study center
Leiden University Medical Centre
Leiden, Zuid-Holland
NetherlandsActive - Recruiting
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