Validation of a Gaucher PRO measure
Research type
Research Study
Full title
Validation of a quality of life measure for patients with Gaucher disease
IRAS ID
251975
Contact name
Jeshika/JS Singh
Contact email
Sponsor organisation
Shire, now part of Takeda
Duration of Study in the UK
0 years, 6 months, 1 days
Research summary
Gaucher disease is an inherited lysosomal storage disorder. It is associated with a variety of symptoms, including pain, fatigue, anaemia, thrombocytopenia, jaundice, bone damage and enlargement of the liver and spleen. Dr Deborah Elstein developed the first patient reported outcome (PRO) measure for patients with Gaucher disease. PRO measures assess the effectiveness of treatments from a patients' perspective, particularly the impact on quality of life.
The Gaucher PRO measure was developed from interviews and discussions with Gaucher disease patients. Initial testing of the validity of the instrument was conducted in 33 patients with Gaucher disease. The focus was on content validity to ensure that the instrument captures all of the important aspects of health important to patients and that saturation has been reached i.e. there is no new relevant or important information emerging. The instrument was found to be comprehensive and relevant, and only minor amendments were made to the questionnaire.
Further assessments are required to ensure that it is valid and reliable, as per the guidance of the Food and Drug Administration (FDA) and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN).
The aim of this research is to assess the psychometric properties of the Gaucher PRO measure. A total of 50 adults with Gaucher disease Type 1 will be recruited from medical centres in England. They will be asked to complete the Gaucher questionnaire, alongside an established quality of life measure at two time points. Clinical information on the severity of the disease will also be obtained. A number of statistical tests will be conducted to assess validity, namely internal consistency, convergent validity and known group validity, and the test-retest reliability of the measure. In addition, a scoring system that can summarise the responses to Gaucher PRO instrument will be investigated using the empirical data.
REC name
London - Hampstead Research Ethics Committee
REC reference
19/LO/0609
Date of REC Opinion
26 Apr 2019
REC opinion
Favourable Opinion