REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN) (JHD)
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 Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)|
- 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.
|Study Start Date:||November 2011|
|Study Completion Date:||June 30, 2017|
|Primary Completion Date:||June 30, 2017 (Final data collection date for primary outcome measure)|
All ages included, but must have an HD age of onset 25 or below
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01590602
|University Hospital of Ulm, Dept. of Neurology|
|Ulm, Germany, 89081|
|Sheffield Children's Hospital, Department of Clinical Genetics|
|Sheffield, United Kingdom, S10 2TH|
|Principal Investigator:||Oliver Quarrell, MD||Sheffield Children's Hospital|