Bone Abstracts

Pediatric bone health research is rapidly expanding. As many bone disorders in children are rare, the field benefits from the attention that rare disorders in general are currently receiving. Consequently, new approaches for treating bone diseases in children have been developed and are being studied in clinical trials. The treatment of hypophosphatasia with bone-targeted enzyme replacement therapy is one of the most advanced programs in this area. New studies on this approach show that it improves survival for perinatal and infantile hypophosphatasia and that school children with hypophosphatasia benefit from enzyme replacement long term. Novel genetic causes of rare pediatric bone diseases are being discovered, even though the large majority of patients with well-defined bone fragility phenotypes have mutations in known genes. New insights are also being generated on more traditional topics of the pediatric bone health field, such as vitamin D supplementation in infancy, where well-designed randomized trials have shown lasting benefits on bone mass and body composition. The pediatric bone health field greatly benefits from long-term studies on large cohorts. One study on healthy children investigated muscle-bone interactions and found that gross-motor skills at 18 months of age are related to measures of bone strength at the age of 17 years. Thus, considerable advances are being made in a wide range of pediatric bone health areas.

Disclosure: Receipt of grants/research support from Ultragenyx and Alexion.