Endocrine Abstracts

Objective: This systematic review aimed to identify and analyze skeletal muscle outcomes in patients with osteogenesis imperfecta (OI), a condition characterized by structural and metabolic abnormalities in skeletal muscle. Specifically, the review focused on assessing muscle mass and function using various imaging modalities.

Methods: A systematic search was conducted in MEDLINE and EMBASE databases. Inclusion criteria comprised patients with any type of OI, measurements of muscle mass using any imaging modality, and assessment of muscle function.

Results: A total of five publications involving a total of 436 patients (age range: 4.8–21.3) met the inclusion criteria. Among these, three were case control studies: one examined lower limb muscle using peripheral quantitative computed tomography(pQCT) and lower limb mechanography(type I OI), another utilized forearm pQCT and DXA to assess total body lean mass(type I, III, and IV OI), and the third evaluated grip strength and lower limb mechanography(type I and IV OI). Additionally, one study compared DXA total body lean mass (type I and IV OI) with normative data derived from a group of healthy controls, while the last study focused on a clinical trial of whole-body vibration therapy in type I and IV OI, comparing DXA total body lean mass, lower limb mechanography, and the 6-minute walk test with normative data. Overall, all papers provided evidence of deficits in muscle mass and function in OI across multiple sites, including the calf, forearm, and total body lean mass. No statistically significant differences were found between OI subtypes for any of the outcomes, although one study reported no significant differences in pQCT forearm muscle mass between type IV OI and healthy controls.

Conclusions: This systematic review establishes that children and adults with OI exhibit deficits in skeletal muscle mass and function, as evidenced by multiple studies utilizing various imaging modalities. The inclusion of clinically relevant muscle outcome measures, along with patient engagement, is crucial for both clinical practice and clinical trials. Furthermore, additional clinical studies focusing on understanding the underlying basis of skeletal muscle deficits may help identify targets for therapy and improve muscle outcomes in individuals with OI.