A national surveillance study of inherited white matter disorders
Research type
Research Database
IRAS ID
190204
Contact name
JH Livingston
Contact email
Research summary
Inherited white matter disorders in children and young people (<16yrs)
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
17/YH/0325
Date of REC Opinion
14 Nov 2017
REC opinion
Further Information Favourable Opinion
Data collection arrangements
During the first stage of our research, following notification to the study team of a potential case of an inherited white matter disorder (IWMD), cases will be allocated a unique study number. This will then allow local clinicians to complete an online REDCap survey hosted by the Leeds Institute of Data Analytics (LIDA). This is a secure computational infrastructure compliant with the NHS's digital information governance toolkit. Data collected will include basic demographic information (gender, age at onset, ethnicity, partial postcode), family history and case history.
Patient/parental consent will then be sought to allow access to anonymised patient imaging; images will be transferred via the PACS system and then stored on a secure external hard drive within a locked NHS office. Anonymised imaging will then undergo expert review alongside the clinical details provided on the initial survey (paired by the unique study number). Cases defined as 'definite' or 'probable' cases of IWMD will then be entered into the study database, again stored securely within LIDA.
Research programme
Inherited white matter disorders (IWMD) are diseases of part of the brain due to abnormal development or degeneration. There are many different diorders, that can present with very wide-ranging symptoms, but often include learning difficulties, loss of skills and behavioural change, abnormal movements (including hypotonia or spasticity), problems with vision and hearing, and seizures. Identification of IWMD has greatly increased following advances in MR imaging, but approximately half of patients still remain without a final diagnosis despite extensive investigation. In those patients without a diagnosis the number and cost, both personal and financial, of further investigations whilst searching for an answer is often a huge burden to patients, families and healthcare professionals. Without specific diagnoses, outcome data and epidemiological data for individualised disorders characterisation, prognostication and potentially treatment of patients is hindered. The overall aim of the study is to provide further information on the incidence and prevalence of IWMD within the UK paediatric population (aged <16 years) in order to inform the development of a highly specialised national service. Such data will enable service planning, identify subgroups where early access to treatments may be considered, and provide the basis for future research studies into these very rare diseases.
Research database title
Inherited white matter disorders in children and young people (<16yrs)
Establishment organisation
Leeds Institute of Data Analytics
Establishment organisation address
Level 11 Worsley Building
Clarendon Way
Leeds
LS2 9NL