Skeletal Dysplasia HRQoL Study
Research type
Research Study
Full title
Health-Related Quality of Life in the Skeletal Dysplasia Population: A Prospective Study
IRAS ID
313890
Contact name
Sam McDonald
Contact email
Sponsor organisation
The Newcastle Upon Tyne Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Skeletal dysplasias are a group of more than 450 genetic disorders characterized by abnormal growth and remodelling of cartilage and bone. The estimated prevalence of the dysplasias is 1 out of every 4,000 – 5,000 births. These disorders can affect the size and shape of the skull, trunk, and extremities to varying degrees, and are frequently associated with disproportionate short stature (i.e. dwarfism). There is wide phenotypic variation in this population. Although most physical changes are not life-threatening, even minor physical differences may influence an individual’s ability to function in daily life. Treatment and management of orthopedic and medical problems have taken precedence in management of the skeletal dysplasias, whereas psychosocial and mental health issues have received less attention, especially in adults. There are significant gaps in the literature on health-related quality of life (HRQOL) in adults with skeletal dysplasias. The studies that do exist have low sample sizes due to the prevalence of these disorders. The purpose of this study is to assess HRQOL in the adult skeletal dysplasia population by studying their responses to seven questionnaires.
REC name
London - Harrow Research Ethics Committee
REC reference
22/PR/0804
Date of REC Opinion
22 Aug 2022
REC opinion
Further Information Favourable Opinion