Huntington's Disease Young Adult Study

Study ID: 32542
Short Title: HD-YAS v1.0
Organisation: University Hospital Southampton NHS Foundation Trust
Location: University Hospital Southampton NHS Foundation Trust
Condition: Huntington's disease
Main Specialty: Neurological disorders
Expected End Date: 31/07/2020
Postcode: SO16 6YD
Contact Name: UHS R&D Office
Contact Email: R&
Active: Yes

Inclusion Criteria

1) All eligible participants: a. Are 18-40 years of age, inclusive; and b. Are capable of providing informed consent and c. Are capable of complying with study procedures

2) For the Healthy Control group, participants eligible are persons who meet the following criteria: a. Have no known family history of HD; or b. 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).

3) For the Young Adult Premanifest HD group, participants eligible are persons who meet the following criteria: a. Do not have clinical diagnostic motor features of HD, defined as Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Score

Exclusion Criteria

4. For all groups, participants are ineligible if they meet any of the following exclusion criteria: a. Current use of investigational drugs or participation in a clinical drug trial within 30 days prior to study visit; or b. Current intoxication, drug or alcohol abuse or dependence; or c. If using any antidepressant, psychoactive, psychotropic or other medications or nutraceuticals used to treat HD, the use of inappropriate (e.g., non-therapeutically high) or unstable dose within 30 days prior to study visit; or d. Significant medical, neurological or psychiatric co-morbidity likely, in the judgment of the Principal Investigator, to impair participant’s ability to complete essential study procedures; or e. Predictable non-compliance as assessed by the Principal Investigator; or f. Inability or unwillingness to undertake any of the essential study procedures; or g. Contraindication to MRI, including, but not limited to, MR-incompatible pacemakers, recent metallic implants, foreign body in the eye or other indications, as assessed by a standard pre-MRI questionnaire; or h. Pregnant (as confirmed by urine pregnancy test); or i. Claustrophobia, or any other condition that would make the subject incapable of undergoing an MRI. For the optional CSF collection only j. Needle phobia, frequent headache, significant lower spinal deformity or major surgery; or k. Antiplatelet or anticoagulant therapy within the 14 days prior to sampling visit, including but not limited to: aspirin, clopidogrel, dipyridamole, warfarin, dabigatran, rivaroxaban and apixaban; or l. Clotting or bruising disorder; or m. Screening blood test results outside the clinical laboratory’s normal range for the following: white cell count, neutrophil count, lymphocyte count, hemoglobin (Hb), platelets, prothrombin time (PT) or activated partial thromboplastin time (APTT); or n. Screening blood test results for C-reactive protein (CRP)> 2× upper limit of normal; or o. Exclusion during history or physical examination, final decision to be made by the Principal Investigator; including but not limited to: i any reason to suspect abnormal bleeding tendency, e.g. easy bruising, petechial rash; or ii any reason to suspect new focal neurological lesion, e.g. new headache, optic disc swelling, asymmetric focal long tract signs; or iii any other reason that, in the clinical judgment of the operator or the Principal Investigator, it is felt that lumbar puncture is unsafe.

Study summary:

The purpose of this research study is to find the earliest time point at which HD related changes can be found in young gene-positive adults and the earliest time at which therapeutic intervention could be given to prevent HD related changes and decline. We will do this by carrying out a number of assessments, including those measuring cognitive-emotional function, and taking an MRI of the brain to see if there are any early disease related changes. As an optional part of the study we will also collect cerebrospinal fluid (CSF) to see if there are any changes in HD CSF markers and blood samples in order to make a collection of blood products matching the CSF collection.

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