Developing clinical outcome assessments for rare diseases
Research type
Research Study
Full title
Developing a clinical outcome assessment for Wolf-Hirschhorn syndrome
IRAS ID
195080
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
Sheffield Childrens Hospital
Duration of Study in the UK
5 years, 1 months, 1 days
Research summary
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder. The severity of WHS differs widely between children. There is no “test” of the severity of WHS. For other conditions “tests” called Clinical Outcome Assessments exist. These are questionnaires, measuring how severely affected someone is by a particular condition. A Clinical Outcome Assessment for WHS would help clinicians to accurately assess all the important symptoms WHS patients may have. In this project we will design a Clinical Outcome Assessment for WHS. The major part of this study is to decide what questions should be included in the Clinical Outcome Assessment in order to accurately measure the severity of WHS. To do this we will interview 25 patients (and their carers). We will ask them what they feel the most disabling symptoms of WHS are. The interviews will be tape recorded. This will help us identify the symptoms which WHS patients/carers feel have the most impact on how “severe” their condition is. Then we will survey 10 doctors who are experts in WHS, using a special survey technique called the “Delphi method”. This will enable us to identify which of the medical problems associated with WHS doctors feel contribute most to the severity of WHS. We will combine the opinions of patients and doctors to create a “first draft” of the Clinical Outcome Assessment. This “first draft” Clinical Outcome Assessment will then be used to measure the severity of WHS in a group of 100 WHS patients. The scores from each WHS patient will then be analysed using a special mathematical test which allows us to see which of the questions in this “first draft” are accurate in measuring the severity of WHS and which are not. The questions which accurately measure severity will form the “final draft” of the WHS Clinical Outcome Assessment.
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
16/YH/0026
Date of REC Opinion
29 Feb 2016
REC opinion
Further Information Favourable Opinion