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REGISTRY - an Observational Study of the European Huntington's Disease Network (EHDN)

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2015 by European Huntington's Disease Network
Information provided by (Responsible Party):
European Huntington's Disease Network Identifier:
First received: March 22, 2012
Last updated: February 18, 2015
Last verified: February 2015

This is a multi-centre, multi-national, prospective, observational study of Huntington's disease (HD) with a control group of volunteers to:

  • obtain natural history data on many HD mutation carriers and individuals who are part of an HD family
  • relate phenotypical characteristics (genetic modifiers / wet and dry biomarkers)
  • expedite identification and recruitment of participants for clinical trials
  • develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of premanifest and manifest HD which may also be potential outcome measures for use in future clinical trials and clinical care
  • plan for future research studies

Huntington Disease
Huntington's Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: REGISTRY - an Observational Study of the European Huntington's Disease Network (EHDN)

Resource links provided by NLM:

Further study details as provided by European Huntington's Disease Network:

Primary Outcome Measures:
  • Phenotypical characteristics of HD [ Time Frame: 13 years ] [ Designated as safety issue: No ]
    The goal of the project is to collect longitudinal data on the phenotypical characteristics of HD gene mutation carriers.

Biospecimen Retention:   Samples With DNA
  • DNA from whole blood
  • DNA
  • Lymphoblastoid cell lines
  • Urine

Estimated Enrollment: 10000
Study Start Date: June 2004
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: July 2016 (Final data collection date for primary outcome measure)
REGISTRY participants


  • with manifest HD
  • unaffected but known to carry the HD mutation
  • unaffected but at risk of carrying the HD mutation
  • from HD families known not to carry the HD mutation
  • from outside HD families acting as control research participants (e.g., spouses)

Detailed Description:

REGISTRY integrates prospectively and systematically collected clinical research data (e.g. phenotypical clinical features, family history, demographical characteristics) with access to biological specimens (e.g. blood, urine) obtained from individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g. spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation).

REGISTRY is an open-ended study and eligible subjects are assessed at annual study visits on the phenotypical characteristics of HD regardless of whether they display clinical symptoms and signs of the disease and of individuals who are part of an HD family (irrespective of their mutation carrier status). At each study visit, general clinical, motor function, behavior, cognitive, Health Economics, Quality of Life assessments are administered. In addition, participants are given the option to consent to the donation of biosamples for the purposes of mutation (CAG repeat length) testing and for research to identify biological modifiers and markers of HD. Biological specimens and phenotypical data are made available to qualified scientists whose projects are reviewed and approved by the Scientific and Bioethical Advisory Committee (SBAC) of EHDN. Successful applicants agree to accept the EHDN policies surrounding the use of the data/materials provided and publication of results (see data sharing and publication policies of EHDN, attached). Research projects should aim to advance scientific knowledge towards establishing clinically effective treatments that delay onset and/or slow the progression of the disease.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g., spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation)


REGISTRY-HD participants include those who are willing to participate in regular (annual) evaluations conducted by the investigators and have a diagnosis of HD, are HD mutation carriers (but who do not meet criteria for a diagnosis of HD) or persons at risk for HD (first and second degree relatives of people affected by HD), are non-HD mutation carrier relatives. Spouses of participants may take part as REGISTRY-CONTROLS.

Inclusion Criteria:

The following individuals may be eligible to participate

  • Individuals, confirmed HD mutation carrier
  • Manifest HD, without mutation (CAG) testing
  • HD family member at-risk, without CAG testing
  • HD family member, non-HD mutation carrier
  • REGISTRY-CONTROL participants: companion/individual without HD history
  • REGISTRY-COMPANION (any of the above).

Exclusion Criteria:

  • Participants who are unable to understand the study protocol or unable to give informed consent, and have no legal representative.
  • Participants with choreic movement disorder other than HD. (EHDN provides a Registry-like tool to record findings in patients affected with choreatic movement disorders other than HD under the label "Neuroacanthocytosis";
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01590589

Contact: Jenny Townhill, Dr.
Contact: Katrin Barth +49 731 50063108

  Show 140 Study Locations
Sponsors and Collaborators
European Huntington's Disease Network
Principal Investigator: Bernhard Landwehrmeyer, Professor University Hospital of Ulm / Dept. of Neurology
  More Information

Additional Information:
EHDN  This link exits the site


Responsible Party: European Huntington's Disease Network Identifier: NCT01590589     History of Changes
Other Study ID Numbers: REGISTRY 3.0
Study First Received: March 22, 2012
Last Updated: February 18, 2015
Health Authority: Austria: Ethikkommission
Belgium: Ethics Committee
Czech Republic: Ethics Committee
Denmark: Ethics Committee
Finland: Ethics Committee
France: Institutional Ethical Committee
Germany: Ethics Commission
Italy: Ethics Committee
Netherlands: Independent Ethics Committee
Norway: Ethics Committee
Poland: Ethics Committee
Portugal: Health Ethic Committee
Russia: Ethics Committee
Spain: Ethics Committee
Sweden: Institutional Review Board
Switzerland: Ethikkommission
United Kingdom: Research Ethics Committee

Keywords provided by European Huntington's Disease Network:
Huntington Disease
European HD Network

Additional relevant MeSH terms:
Huntington Disease
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Cognition Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Disorders
Movement Disorders
Nervous System Diseases
Neurodegenerative Diseases processed this record on March 02, 2015