Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Help guide our efforts to modernize ClinicalTrials.gov.
Send us your comments by March 14, 2020.

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01590602
Recruitment Status : Completed
First Posted : May 3, 2012
Last Update Posted : September 15, 2017
Sponsor:
Information provided by (Responsible Party):
European Huntington's Disease Network

Tracking Information
First Submitted Date March 22, 2012
First Posted Date May 3, 2012
Last Update Posted Date September 15, 2017
Study Start Date November 2011
Actual Primary Completion Date June 30, 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 18, 2015)
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.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT01590602 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)
Official Title REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)
Brief Summary

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.

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
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population HD patients of all ages with an age of onset below 26
Condition Huntington Disease, Juvenile
Intervention Not Provided
Study Groups/Cohorts JHD cases
All ages included, but must have an HD age of onset 25 or below
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: September 14, 2017)
78
Original Estimated Enrollment
 (submitted: May 2, 2012)
50
Actual Study Completion Date June 30, 2017
Actual Primary Completion Date June 30, 2017   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Germany,   United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT01590602
Other Study ID Numbers REGISTRY-JHD
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party European Huntington's Disease Network
Study Sponsor European Huntington's Disease Network
Collaborators Not Provided
Investigators
Principal Investigator: Oliver Quarrell, MD Sheffield Children's Hospital
PRS Account European Huntington's Disease Network
Verification Date September 2017