HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease (HDClarity)

December 19, 2023 updated by: Edward Wild, University College, London
HDClarity will seek at least 2500 research participants at different stages of Huntington's disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of biomarkers and pathways that will enable the development of novel treatments for HD. The secondary objective is to generate a high quality plasma sample collection matching the CSF collections, which will also be used to evaluate biomarkers and pathways of relevance to HD research and development.

Study Overview

Status

Recruiting

Conditions

Detailed Description

This is a longitudinal open-ended observational study. Participants will attend two annual study visits, an Annual Screening Visit followed by an Annual Sampling Visit, and may also attend an optional visit during the first year of enrollment, an Optional Repeat Sampling Visit.

During the Annual Screening Visit, medical history, and clinical and phenotypic data will be obtained. Participants who meet the eligibility requirements of the study and are willing to continue in the study, will return for an Annual Sampling Visit. During that visit, biosamples will be collected following a fast of at least 6 hours, or overnight: blood will be obtained via venipuncture and CSF will be obtained via lumbar puncture. Some participants may be invited to return for an Optional Repeat Sampling Visit approximately 4-8 weeks after the Annual Sampling Visit during their first year of enrolment.

The annual visits are at regular intervals after the first Annual Screening Visit (i.e. at 1, 2, 3 years and so on) ± 2 months. Participants will be encouraged to complete all annual visits; however, they are under no obligation to take part and will be able to skip annual visit without being discontinued from the study. Participants who do not come for an Annual Sampling Visit for three consecutive years will be discontinued from the study, but they may enrol again at a later date, if they so consent. Participants who have already completed HDClarity Sampling Visits under earlier versions of this protocol may also participate in the longitudinal study if they meet the eligibility criteria.

Study Type

Observational

Enrollment (Estimated)

2500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
    • British Columbia
      • Vancouver, British Columbia, Canada, V6T 2B5
        • Recruiting
        • University of British Columbia, The Centre for Huntingtons Disease
        • Contact:
        • Principal Investigator:
          • Blair Leavitt, MD, CM
    • Ontario
      • Ottawa, Ontario, Canada, K1Y 4E9
        • Recruiting
        • The Ottawa Hospital
        • Contact:
        • Principal Investigator:
          • Tiago Mestre, Dr
      • Toronto, Ontario, Canada, M2K 1E1
        • Recruiting
        • North York General Hospital
        • Contact:
        • Principal Investigator:
          • Philippe Rizek, Dr
      • Toronto, Ontario, Canada, M3B 2S7
        • Completed
        • Centre for Movement Disorders
  • Germany
      • Bochum, Germany, 44791
      • Erlangen, Germany, 91054
        • Recruiting
        • University Hospital of Erlangen
        • Principal Investigator:
          • Winkler Jurgen
        • Contact:
      • Münster, Germany, 48149
        • Recruiting
        • George Huntington Institute
        • Principal Investigator:
          • Ralf Reilmann
        • Contact:
    • Baden-Württemberg
      • Ulm, Baden-Württemberg, Germany, 89081
        • Recruiting
        • University Hospital Ulm
        • Contact:
        • Principal Investigator:
          • Jan Lewerenz, MD
    • Saxony
      • Dresden, Saxony, Germany, 01307
  • Italy
      • Milan, Italy, 20133
        • Active, not recruiting
        • Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
      • Rome, Italy, 00185
        • Recruiting
        • Lega Italiana Ricera Huntington
        • Contact:
        • Principal Investigator:
          • Ferdinando Squitieri, MD
  • New Zealand
    • Canterbury
      • Christchurch, Canterbury, New Zealand, 8011
  • Poland
      • Warsaw, Poland, 02-957
        • Active, not recruiting
        • Institute of Psychiatry and Neurology
  • Spain
      • Barcelona, Spain, 08041
        • Recruiting
        • Hospital de Sant Pau
        • Contact:
        • Principal Investigator:
          • Jamie Kulisevsky, MD, PhD
    • Biscay
      • Bilbao, Biscay, Spain, 48903
        • Recruiting
        • Cruces University Hospital
        • Contact:
        • Principal Investigator:
          • Tamara Fernandez Valle, Dr
  • United Kingdom
      • Bristol, United Kingdom, BS10 5NB
        • Not yet recruiting
        • North Bristol NHS Trust
        • Contact:
        • Principal Investigator:
          • Elizabeth Coulthard, MBBS
      • Cambridge, United Kingdom, CB2 0PY
        • Recruiting
        • Cambridge University Hospitals NHS Foundation Trust
        • Principal Investigator:
          • Roger Barker
        • Contact:
      • Cardiff, United Kingdom, CF24 4HQ
        • Recruiting
        • Cardiff University
        • Contact:
        • Principal Investigator:
          • Anne Rosser, MD
      • Kirkcaldy, United Kingdom, KY1 2ND
        • Active, not recruiting
        • Fife Health Board - Whyteman's Brae Hospital
      • Leeds, United Kingdom, LS7 4SA
        • Recruiting
        • Leeds Teaching Hospital Trust
        • Contact:
        • Principal Investigator:
          • Jeremy Cosgrove, MBBS
      • Liverpool, United Kingdom, L9 7LJ
        • Active, not recruiting
        • The Walton Centre NHS Foundation Trust
      • London, United Kingdom, NW1 2PG
        • Recruiting
        • University College London Hospitals NHS Foundation Trust
        • Contact:
        • Principal Investigator:
          • Edward Wild, MD, PhD
      • London, United Kingdom, SW17 0RE
        • Recruiting
        • St George's University of London
        • Principal Investigator:
          • Nayana Lahiri
        • Contact:
      • Oxford, United Kingdom, OX3 9DU
        • Recruiting
        • Oxford University Hospitals NHS Foundation Trust
        • Contact:
        • Principal Investigator:
          • Richard Armstrong, MA, PhD, BMBCh, MRCP
      • Plymouth, United Kingdom, PL6 5FP
        • Active, not recruiting
        • University Hospitals Plymouth NHS Trust
    • Devon
      • Exeter, Devon, United Kingdom, EX2 5DW
        • Recruiting
        • Royal Devon & Exeter NHS Foundation Trust
        • Contact:
        • Principal Investigator:
          • Tim Harrower, MBBS
    • Scotland
      • Glasgow, Scotland, United Kingdom, G51 4TF
        • Recruiting
        • Glasgow Clinical Research Facility
        • Contact:
        • Principal Investigator:
          • Matthew Sheridan, MBBS
    • West Midlands
      • Birmingham, West Midlands, United Kingdom, B15 2 FG
        • Recruiting
        • Birmingham Huntingtons Disease Clinic
        • Contact:
        • Principal Investigator:
          • Hugh Rickards, MB, ChB, MSc, FRCPsych, MD
  • United States
    • Colorado
      • Englewood, Colorado, United States
    • District of Columbia
      • Washington, District of Columbia, United States, 20057
        • Recruiting
        • Georgetown University
        • Contact:
        • Principal Investigator:
          • Karen Anderson, MD
    • Maryland
      • Baltimore, Maryland, United States, 21287
        • Recruiting
        • John Hopkins University
        • Contact:
        • Principal Investigator:
          • Jee Bang, MPH, MD
    • North Carolina
      • Winston-Salem, North Carolina, United States, 27109
        • Active, not recruiting
        • Wake Forest University
    • Tennessee
      • Nashville, Tennessee, United States, 37212
        • Recruiting
        • Vanderbilt University Medical Center
        • Contact:
        • Principal Investigator:
          • Daniel Claassen, MD, MS
    • Texas
      • Houston, Texas, United States, 77030
        • Recruiting
        • University of Texas Health Science Center
        • Contact:
        • Principal Investigator:
          • Erin Furr-Stimming

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

19 years to 73 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Participants across 8 clinical cohorts will be enrolled at multiple sites up to an estimated minimum of 2500 participants or until the study is terminated by either the Funding Source or Sponsor

Description

Inclusion Criteria:

  • Age (18-75 years controls, early/late premanifest HD and incomplete penetrance HD, 21-75 years early/moderate/advanced manifest HD, ≥11 years juvenile HD)
  • Enroll HD participant
  • Capable of consenting or have a legal representative (parent/guardian for juveniles)
  • Capable of complying with study procedures
  • All participants other than family and community controls must have had a genetic test for HD

Exclusion Criteria:

  • Drug trial within 30 days of any sampling visit
  • Changes in medication (antidepressant, psychoactive, psychotropic or other medications or nutraceuticals used to treat HD within 30 days)
  • Antiplatelet or anticoagulant therapy within 14 days
  • Significant comorbidity
  • Needle phobia, headache, spinal surgery / deformity
  • Clotting or bruising disorder
  • Screening blood test abnormalities >10% outside normal range
  • Drug / alcohol abuse
  • Positive urine pregnancy test at any screening or sampling visit for females of childbearing potential
  • Predictable non compliance or unwillingness
  • Serious adverse event related to HDClarity study procedures or any lumbar puncture procedure performed for any reason in the previous 30 days

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Early Pre-manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are 18-75 years of age, inclusive, at the time of consent; and
  2. Do not have clinical diagnostic motor features of HD, defined as Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Score < 4; and
  3. Have CAG expansion ≥ 40; and
  4. Have burden of pathology score, computed as (CAG - 35.5) × age, < 250
Late Pre-manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are 18-75 years of age, inclusive, at the time of consent; and
  2. Do not have clinical diagnostic motor features of HD, defined as Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Score < 4; and
  3. Have CAG expansion ≥ 40; and
  4. Have burden of pathology score, computed as (CAG - 35.5) x age, ≥ 250
Early Manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are 21-75 years of age, inclusive, at the time of consent; and
  2. Have clinical diagnostic motor features of HD, defined as UHDRS Diagnostic Confidence Score = 4; and
  3. Have CAG expansion ≥ 40; and
  4. Have Stage I or Stage II HD, defined as UHDRS Total Functional Capacity (TFC) scores between 7 and 13 inclusive
Moderate Manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are 21-75 years of age, inclusive, at the time of consent; and
  2. Have clinical diagnostic motor features of HD, defined as UHDRS Diagnostic Confidence Score = 4; and
  3. Have CAG expansion ≥ 40; and
  4. Have Stage III HD, defined as UHDRS TFC scores between 3 and 6, inclusive
Advanced Manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are 21-75 years of age, inclusive, at the time of consent; and
  2. Have clinical diagnostic motor features of HD, defined as UHDRS Diagnostic Confidence Score = 4; and
  3. Have CAG expansion ≥ 40; and
  4. Have Stage IV HD, defined as UHDRS TFC scores between 0 and 2, inclusive
Incomplete Penetrance HD

Participants eligible are persons who meet the following criteria:

  1. Are 18-75 years of age, inclusive, at the time of consent; and
  2. Have CAG expansion of 36-39
Juvenile Manifest HD

Participants eligible are persons who meet the following criteria:

  1. Are ≥11 years of age at the time of consent; and
  2. Have clinical diagnostic features of juvenile HD, defined as UHDRS Diagnostic Confidence Score = 4 aged ≤20 years; and
  3. Have CAG expansion ≥ 40
Healthy Control

Participants eligible are persons who meet the following criteria:

  1. Are 18-75 years of age, inclusive, at the time of consent; and
  2. Have no known family history of HD; or
  3. 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The primary objective of this study is:
Time Frame: years N/A
To generate a high quality CSF sample collection for evaluation of biomarkers and pathways that will enable the development of novel treatments for HD.
years N/A

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The secondary objectives of this study are:
Time Frame: years N/A

To generate a high quality plasma sample collection matching the CSF collections, which will also be used to evaluate biomarkers and pathways of relevance to HD research and development.

To collect phenotypic and clinical data for each participant.
years N/A

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Collaborators

CHDI Foundation, Inc.

Investigators

  • Principal Investigator: Edward J Wild, MA, MB BChir, MRCP, PhD, University College, London

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2017

Primary Completion (Estimated)

May 1, 2025

Study Completion (Estimated)

May 1, 2025

Study Registration Dates

First Submitted

July 26, 2016

First Submitted That Met QC Criteria

August 3, 2016

First Posted (Estimated)

August 4, 2016

Study Record Updates

Last Update Posted (Actual)

December 20, 2023

Last Update Submitted That Met QC Criteria

December 19, 2023

Last Verified

December 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 15/0519

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

The cerebrospinal fluid (CSF) and plasma samples collected in this study will be the basis of future biomarker analysis studies. A Scientific Advisory Committee which will decide how the samples will be analysed.

Study Data/Documents

  1. Study Protocol
  2. Informed Consent Form
    Information comments: Draft informed consent form, not yet approved by an Institutional Review Board for clinical use

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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