PRO Selection and Validation Study Version 4.0
Research type
Research Study
Full title
Selection and validation of an instrument to assess patient- (and parent-reported) outcomes, in Children and Adolescents with Achondroplasia
IRAS ID
183042
Contact name
Clementine Nordon
Contact email
Research summary
Background: Achondroplasia is the most common type of short-limb disproportionate dwarfism. It affects more than 250 000 people worldwide. BioMarin Pharmaceutical is developing a natural human peptide, C-type natriuretic peptide to treat achondroplasia, and is currently planning the Phase 3 Trial which will include the use of a Patient-Reported Outcome instrument. Regarding achondroplasia, no PRO instrument has been developed or validated. Little is known on the Quality of Life of patients living with achondroplasia.
Objectives: The objectives of the study are to identify the domains of interest in achondroplasia, using the children/parents’ perspective. To assess the clarity, relevance and suitability of items of the pre-selected PRO questionnaires.To select the most relevant PRO questionnaires, using the domains of interest and the assessment of pre-selected PRO questionnaires. And to describe the psychometric properties of the PRO instrument(s) selected, in children and adolescents with achondroplasia.
Methods: This study will be in two phases: Phase1 will be a transversal non-interventional, feasibility study. A one-day meeting with patients and a trained research psychologist will be organized, to collect qualitative and quantitative data using the Focus Groups (FG) methodology. The study will include children from 5 to 14 years old and suffering from achondroplasia and their parents. The quantitative and qualitative study data will be prospectively collected during a one-day meeting – Focus Group – of about 3 hours with patients/parents and an interviewer.
Phase 2 will be a cross-sectional non-interventional, observational study to describe the psychometric properties of the PRO instrument(s) selected at the previous stage and validating it for an achondroplasia population. Data will be collected from a minimum of 56 children and 68 parents. The study data will be prospectively collected during a regular visit of the patients/parents to the principal investigator’s centre. The participants will complete data on a CRF, child and parent versions.REC name
Wales REC 7
REC reference
15/WA/0249
Date of REC Opinion
5 Aug 2015
REC opinion
Further Information Favourable Opinion