Huntington's disease Huntington's disease
Conditions
Interventions
The annual assessments will include biomarker analysis in tears, blood and cerebrospinal fluid (CSF) samples, as well as saliva.
Sponsors
Universiteit Maastricht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Age of 18 years or older • Is able to travel to the MaastrichtUMC+ for the on-site visits • Written informed consent must be obtained from the participant • Are capable of complying with study procedures, including blood sampling and lumbar puncture For the different groups, there are additional inclusion criteria: 1. Premanifest Huntington's Disease Expansion Carriers (HDGECs): • Determined CAG repeat length of 36 or more; • No clinical signs and symptoms of HD and a Unified Huntington’s Disease Rating Scale (UHDRS) Total Motor Score (TMS) <5 2. Manifest HDGECs: • Determined CAG repeat length of 36 or more; • Unified Huntington’s Disease Rating Scale (UHDRS) Total Motor Score (TMS) >5 • Diagnostic Confidence Level (DCL) of 4 3. Healthy Controls: • Have no known family history of HD; or • Have known family history of HD but have been tested for the huntingtin gene CAG expansion and are not at genetic risk for HD (CAG < 36).
Exclusion criteria
Exclusion criteria: Use of investigational drugs or participation in a clinical drug trial, during the study period and/or within 6 months prior to the first study visit; • Prior use of an antisense oligonucleotide investigational drug (2); • Pregnancy; • Severe chorea that, in the investigator's judgment, precludes the patient's participation in and completion of the lumbar puncture; • Regarding lumbar puncture o Medical history of compression of spinal cord, abnormalities in lower spine that are not compatible with the performance of an LP; o Active skin infection; o Use of anti-coagulant drugs within the last 14 days prior lumbar puncture; o Clinical (or MRI) evidence of structural (space occupying) cerebral abnormalities that are not compatible with the performance of an LP including malignancies, abscess or obstructive hydrocephalus; o Screening blood test results outside normal range (prothrombin time (PT), international normalized ratio (INR), and thrombocytes). If only marginally decreased or increased this will be decided by the clinical PI.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameters are the baseline values and annual measurements of biomarkers in tears, plasma, CSF and saliva, in combination with the baseline values and annual measurements in clinical outcome measures, in the three groups: premanifest, manifest HDGECs and HCs. Comparison of baseline values and change over time of biomarkers in tears, plasma, CSF and saliva and clinical outcome measures of HDGECs and HCs. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameters/endpoints - To compare the diagnostic accuracy of tear biomarkers with plasma, CSF and saliva -To explore new HD related non-invasive biomarkers in tear fluid by the newest omics technologies | — |
Countries
Netherlands
Contacts
Public ContactM Oosterloo
Maastricht Universitair Medisch Centrum +
Outcome results
None listed