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

September 14, 2017 updated by: European Huntington's Disease Network

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

78

Contacts and Locations

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

Study Locations

  • Germany
      • Ulm, Germany, 89081
        • University Hospital of Ulm, Dept. of Neurology
  • United Kingdom
      • Sheffield, United Kingdom, S10 2TH
        • Sheffield Children's Hospital, Department of Clinical Genetics

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

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

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

Cohorts and Interventions

Group / Cohort
JHD cases
All ages included, but must have an HD age of onset 25 or below

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evalutation of assessments for HD
Time Frame: 5 years
If the assessment used as in the study or further modified proofs to be sensitive to disease progression over relatively short time periods, then it is likely to have a significant impact on study trial design and cost.
5 years

Collaborators and Investigators

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

Sponsor

European Huntington's Disease Network

Investigators

  • Principal Investigator: Oliver Quarrell, MD, Sheffield Children's Hospital

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.

General Publications

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

November 1, 2011

Primary Completion (Actual)

June 30, 2017

Study Completion (Actual)

June 30, 2017

Study Registration Dates

First Submitted

March 22, 2012

First Submitted That Met QC Criteria

May 2, 2012

First Posted (Estimate)

May 3, 2012

Study Record Updates

Last Update Posted (Actual)

September 15, 2017

Last Update Submitted That Met QC Criteria

September 14, 2017

Last Verified

September 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • REGISTRY-JHD

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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