Musculoskeletal health in adults with osteogenesis imperfecta
Research type
Research Study
Full title
Musculoskeletal health in adults with osteogenesis imperfecta
IRAS ID
232383
Contact name
Alex Ireland
Contact email
Sponsor organisation
Manchester Metropolitan University
Duration of Study in the UK
0 years, 11 months, 28 days
Research summary
Research Summary
Osteogenesis imperfecta (OI, commonly known as brittle bone disease) is a group of genetic disorders which result in brittle, fracture-prone bones due to lower quality and/or quantity of type I collagen. However, soft tissues (muscle/tendons/ligaments) also contain a high proportion of type-I collagen, which could mean that their health and function is also affected. However, this has not been explored.
We will use highly repeatable non-invasive clinical imaging and functional tests which are well-established in our laboratory to measure muscle, tendon and bone in young adults (age 18-35y) with type I OI and age-matched controls. We are examining individuals with type I OI (the most common form making up 50% of diagnoses), as absence of substantial growth deficits and limb deformity allow easier comparison with unaffected adults. This study will provide the first description of muscle and tendon structure/function and physical function in adults with OI, and how it relates to degree of bone strength deficit in these individuals. This information is essential to understanding the basis of several non-bony problems affecting adults with OI.
Summary of Results
Whilst 20 controls (target of 20) were recruited, only six individuals with osteogenesis imperfecta were recruited against a target of 20, despite approaching a large number of prospective participants. This included increasing our recruitment sites. In addition, the COVID-19 pandemic made recruitment and testing impossible in the second half of the project, and then university building work meant that the imaging and functional assessment equipment on which the study was based was decommissioned so further recruitment and testing was not possible. Therefore from this small dataset we are unable to make meaningful inferences.
REC name
North West - Preston Research Ethics Committee
REC reference
18/NW/0337
Date of REC Opinion
9 Jun 2018
REC opinion
Further Information Favourable Opinion