Hunting for Biomarkers: Biomarkers in Intermediate Allele Carriers, Adult-, and Early-onset Huntington's Disease Patients.
Recruiting
A 3 year prospective cohort study without interventions. The annual assessments will include biomarker analysis in blood and cerebrospinal fluid (CSF) samples, as well as Magnetic Resonance Imaging (MRI). Participants will also undergo detailed clinical assessment.
This research project is part of the *CureQ: Predict, Delay & Cure polyglutamine(Q) caused Neurodegeneration* consortium.
The main aim of CureQ is to better predict onset and progression of disease, of HD and spinocerebellar ataxia, and enable polyQ targeted therapies. In this study, we will build a national longitudinal clinical cohort of intermediate allele(IA)carriers, adult-onset HD(AHD), early-onset HD(EoHD) patients, and controls for phenotyping and biomarker research.
Subtype: Observational Biomarker
Ages Eligible
for Study:
Adolescents (16-17 years)
Sexes Eligible
for Study:
All
Accepts Healthy Volunteers:
yes
General inclusion criteria:
– Is able to travel to the MaastrichUMC+ or the LUMC for the on-site visits;
– Written informed consent must be obtained from the participant and/or legal
representative.
Inclusion criteria for Intermediate Allele carriers:
• Determined CAG repeat length of 27 – 35;
• Age of 40 years or older.
Inclusion criteria for adult-onset HD patients:
• Determined CAG repeat length of 40 – 45;
• HD onset >= 40 years of age;
• Age of 40 years or older.
Inclusion criteria for early-onset HD patients:
• Determined CAG repeat length of >= 40;
• HD onset <= 30 years of age;
• Age of 16 – 30 years.
Inclusion criteria for control participants:
• No HD diagnosis, preferably with determined CAG repeat of < 27;
• Age of 16 years or older.
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 Tominersen (antisense oligonucleotide investigational drug);
– Current intoxication, drug, or alcohol abuse or dependence;
– Pregnancy;
– Severe chorea that, in the investigator’s judgment, precludes the patient’s
participation in and completion of the MRI and/or lumbar puncture;
– General contra-indications to MRI scanning;
– For those participants who consider to consent for a lumbar puncture, general
contra-indications for lumbar puncture.
LOCATION
NETHERLANDS
TRIAL SITE: Leids Universitair Medisch Centrum
Address: Netherlands
TRIAL SITE: Maastricht Universitair Medisch Centrum
Address: Netherlands
