Clinicopathological MRI and CSF Correlates in Huntington's Disease.
NCT ID: NCT05534139
Last Updated: 2022-09-09
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
90 participants
OBSERVATIONAL
2021-08-11
2024-08-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
CROSS_SECTIONAL
Study Groups
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Healthy controls
Partner/spouse of a patient not at risk of HD OR sibling with genetic test results available that show a normal CAG repeat length for both HTT alleles (\<36); No other known cognitive, neurological or psychiatric disorders.
7T MRI-scan
MRI-scanning of the brain using a 7T-MRI scanner
CSF collection via lumbar puncture
CSF is collected by doing a lumbar puncture
Blood withdrawal
Blood is collected by doing a blood withdrawal
Clinical measures
UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments
Premanifest HD expanded gene carrier
HDGEC before clinical onset: TMS \<5, DCL \<4, TFC = 13. No other major comorbidity.
7T MRI-scan
MRI-scanning of the brain using a 7T-MRI scanner
CSF collection via lumbar puncture
CSF is collected by doing a lumbar puncture
Blood withdrawal
Blood is collected by doing a blood withdrawal
Clinical measures
UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments
Early Manifest HD patient
HDGEC after clincial onset: TMS \>5, DCL = 4. Early stage of disease: TFC 11-13. No other major comorbidity.
7T MRI-scan
MRI-scanning of the brain using a 7T-MRI scanner
CSF collection via lumbar puncture
CSF is collected by doing a lumbar puncture
Blood withdrawal
Blood is collected by doing a blood withdrawal
Clinical measures
UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments
Moderate Manifest HD patient
HDGEC after clincial onset: TMS \>5, DCL = 4. Moderate stage of disease: TFC 7-10. No other major comorbidity.
7T MRI-scan
MRI-scanning of the brain using a 7T-MRI scanner
CSF collection via lumbar puncture
CSF is collected by doing a lumbar puncture
Blood withdrawal
Blood is collected by doing a blood withdrawal
Clinical measures
UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments
Interventions
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7T MRI-scan
MRI-scanning of the brain using a 7T-MRI scanner
CSF collection via lumbar puncture
CSF is collected by doing a lumbar puncture
Blood withdrawal
Blood is collected by doing a blood withdrawal
Clinical measures
UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments
Eligibility Criteria
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Inclusion Criteria
* 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 results available that show a normal CAG repeat length for both HTT alleles (\<36);
* No other known cognitive, neurological or psychiatric disorders.
Exclusion Criteria
* 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 days prior 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's participation 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, neutrophil count, lymphocyte count, hemoglobin, platelets, Prothrombin time (PT), activated partial thromboplastin time (APTT), C-reactive protein (CRP) and serum ferritin) if only marginally decreased or increased this will be decided by the clinical PI;
* Signs and symptoms of increased intracranial pressure which will be confirmed on the 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.
21 Years
75 Years
ALL
Yes
Sponsors
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Brighton & Sussex Medical School
OTHER
University of Ulm
OTHER
Leiden University Medical Center
OTHER
Responsible Party
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Susanne T de Bot, MD, PhD
MD PhD
Principal Investigators
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Susanne de Bot, MD PhD
Role: PRINCIPAL_INVESTIGATOR
Neurology
Locations
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Leiden University Medical Centre
Leiden, South Holland, Netherlands
Countries
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Central Contacts
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Facility Contacts
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Nadine van de Zande, MD
Role: primary
Kasper van der Zwaan, drs
Role: backup
Other Identifiers
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P19.030
Identifier Type: -
Identifier Source: org_study_id
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