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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by European Huntington's Disease Network
Information provided by (Responsible Party):
European Huntington's Disease Network Identifier:
First received: March 22, 2012
Last updated: September 4, 2013
Last verified: September 2013

The study aims to monitor the progression of symptoms and signs of those affected by JHD using modified UHDRS scales of motor and function (functional assessment, TFC). This will provide some basic data to analyse the usefulness of the proposed rating scales. Specifically, the initial aim is to assess these rating scales using an iterative process.

There may be significant delays in diagnosis of JHD especially if the young person presents with behavioural problems. Caregivers will be asked questions to capture the number of contacts with professionals in the time between onset of concerns about the young person and the confirmation of diagnosis.

Aim is to monitor the progression of symptoms and signs of those affected by JHD using modified UHDRS scales of motor and function (functional assessment, TFC). This will provide some basic data to analyse the usefulness of the proposed rating scales.

Huntington Disease, Juvenile

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: REGISTRY-JHD - 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:

Estimated Enrollment: 50
Study Start Date: November 2011
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: July 2016 (Final data collection date for primary outcome measure)
JHD cases
All ages included, but must have an HD age of onset 25 or below

Detailed Description:

Juvenile Huntington's disease (JHD), defined as motor symptom onset before 21 years of age, has been recognised as being at one end of the phenotypic spectrum of HD. In many studies the proportion of cases meeting this definition has varied, but it is usually less than 10% and more probably 5%.

At present, no treatment is available which will alter the natural history of the condition; however, there is considerable research activity being undertaken to identify novel treatments. Any new disease-modifying treatment will have to be evaluated in a clinical trial with a predetermined outcome measure. Given the relatively slow rate of progression of HD, such a trial may have to last several years and as a consequence be less attractive from a commercial perspective. Patients with JHD have more extensive pathology but are frequently excluded from clinical trials because of the differing phenotype; this study will assess the feasibility of using this rating scale; if it or a further modification can be used and is sensitive to disease progression over relatively short time periods, then it is likely to have a significant impact on study trial design and cost.

Given the rarity of JHD, wide collaboration of scientists, clinicians and families affected by JHD internationally is important. As might be expected, the pathology in JHD is more widespread. Therefore, we need the ability to assess treatments, which alter the natural history on this subgroup of patients.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

HD patients of all ages with an age of onset below 26


Inclusion Criteria:

  • A clinical diagnosis of Juvenile-onset HD (motor onset as measured by TMS > 5, Diagnostic Confidence level = 4, AND age of onset aged 25 or younger).
  • With family history of HD or DNA testing results demonstrating the presence of the HD mutation (i.e. a CAG repeat expansion within the HD gene >35 on larger allele).
  • All participants must be able to provide consent for themselves, have a parent/guardian who can provide parental permission, or have an authorized legal representative who can provide consent.

Exclusion Criteria:

  • Participants who are unable to understand the study protocol or unable to give informed consent, and have no legal representative.
  • Age of onset ≥26
  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: NCT01590602

Contact: Jenny Townhill, PhD

University Hospital of Ulm, Dept. of Neurology Recruiting
Ulm, Germany, 89081
Contact: Bernhard Landwehrmeyer, Professor    +49 731 500 63101   
Sub-Investigator: Sigurd D Süssmuth, PD Dr.         
Principal Investigator: Michael Orth, PD Dr.         
United Kingdom
Sheffield Children's Hospital, Department of Clinical Genetics Recruiting
Sheffield, United Kingdom, S10 2TH
Contact: Oliver Quarrell, MD    +44 1142717025   
Principal Investigator: Oliver Quarrell, MD         
Sponsors and Collaborators
European Huntington's Disease Network
Principal Investigator: Oliver Quarrell, MD Sheffield Children's Hospital
  More Information

Additional Information:
EHDN  This link exits the site


Responsible Party: European Huntington's Disease Network Identifier: NCT01590602     History of Changes
Other Study ID Numbers: REGISTRY-JHD
Study First Received: March 22, 2012
Last Updated: September 4, 2013
Health Authority: Germany: Ethics Commission

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

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 November 24, 2014