This is being done by Dr Ruth Williams, a consultant
paediatric neurologist at the Evelina Children's
Hospital who is also the Medical Advisor to the BDFA.
Summary of Project
The
aim is to develop a standardised scheme for the
detailed assessment of children and young people
diagnosed with Batten Disease. It is hoped that such
a scheme will be useful in clinical and specialist
education settings to monitor the disease and help
predict future needs. As laboratory based research
has greatly increased our understanding of the
disease, new strategies for therapy and possible
cures are being explored. At the present time, the
methods used to assess any response to new
treatments are crude and a way of measuring the
progress of the disease is urgently required. This
will be essential before any new drugs or
interventions can be made widely available.
Update
Ethical approval was obtained in 2007 from the Guy's
Research Ethics Committee for this project and
Research Governance approval for Dr Ruth Williams to
carry out the project at the Evelina Children's
Hospital. Dr Williams provided an interim report
early this year and and will provide a further
interim report in January 2009.
Dr
Williams is continuing to recruit children and young
people with the help of the BDFA and arranging the
first and subsequent assessments either at the
Evelina Children's Hospital in London or at a more
convenient local centre, school or home.
Participants are asked to attend 4, six monthly
interval assessments over a 2 year period.
Assessments take between 60 and 90 minutes each.
They will consist of a clinical neurological and
developmental examination together with a short
audio recording of speech in some cases.
Please contact Dr Ruth Williams, Consultant Paediatric Neurologist, The
Evelina Children's Hospital, for further details if
you are interested in your child/ young adult in
helping with this project by taking part : telephone
0207 188 4004; email
ruth.williams@gstt.nhs.uk.
This project is supported through a Jeans for
Genes Campaign grant to the BDFA |
