a feasibility study of a clinical trial for wolf-hirschhorn syndrome
Research type
Research Study
Full title
An observational cohort study of Wolf-Hirschhorn syndrome in the United Kingdom to establish feasibility of a clinical trial
IRAS ID
263486
Contact name
Alisdair mcneill
Contact email
Sponsor organisation
sheffield childrens hospital nhs foundation trust
Clinicaltrials.gov Identifier
NA, NA
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
This project will establish the feasibility of a clinical trial of ketogenic diet or growth hormone for Wolf-Hirschhorn syndrome (WHS). WHS is a multi-system developmental disorder associated with deletion of chromosome 4p16.3. WHS is characterised by growth restriction, organ malformations (e.g. congenital heart disease), developmental delay and characteristic facial appearance. Over 90% of people with WHS have epileptic seizures, which can be intractable. The clinical features of WHS are highly variable. A clinical trial will meet the urgent need for effective treatments for WHS. We need to ascertain all individuals with WHS in the UK in order to perform statistical calculations to establish the power of a clinical trial. We will invite all individuals with a WHS deletion identified in each of the 23 regional genetics centres in England (age under 18). We will study these individuals using special clinical questionnaires to measure how severely affected they are. We will perform special statistical tests to assess if the number of patients with WHS and the type of symptoms they have would allow us to perform a clinical trial in WHS of either ketogenic diet or growth hormone.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
19/SC/0294
Date of REC Opinion
19 Aug 2019
REC opinion
Further Information Favourable Opinion