Huntington Disease, Juvenile Clinical Trial
Official title:
REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)
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.
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.
;