Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta

Osteogenesis Imperfecta Foundation, Inc., Gaithersburg MD

Investigators

Abstract

DESCRIPTION (provided by applicant): Osteogenesis imperfecta (OI) is a congenital condition that affects about 1/10,000 individuals worldwide. Approximately 30,000 individuals in the United States, including a growing number of adults, are afflicted with the disorder. The hallmark of OI is fragile bones that easily fracture. Severity ranges from a relatively mild form of the condition to forms with varying degrees of disability, including extreme short stature. The most severe forms cause death in the perinatal period from pulmonary insufficiency as a result of marked underdevelopment and fracture of bones of the chest. The growing number of adults with OI demands that we expand beyond the exploration of pediatric musculoskeletal interventions and techniques and begin to evaluate the long-term impact of these interventions in helping adults maximize independent living and function. Success requires a coordinated effort from genetic, endocrine, orthopedic, physical medicine, physical therapy, and occupational therapy specialists _ an effort that must focus on improving evaluation of therapeutic and surgical interventions, with particular emphasis on delineating the role of exercise and preventing muscle atrophy _ so that improved standards of care can be developed. Only such an approach will help meet the primary goal in the treatment for OI: to minimize fracture while maximizing function and quality of life. The April 2010 scientific conference, Improving Musculoskeletal Outcomes for Individuals with OI, which will be held in Rosemont, Illinois, will be the ninth such meeting coordinated by the Osteogenesis Imperfecta Foundation. The conference will consist of a 1 1/2 day workshop in which a multidisciplinary team builds on the Foundation's earlier work to establish guidelines for quality medical care. Participants will begin to explore the issues faced by adolescents and adults with OI and start to build a consensus on essential measures for documenting treatment outcomes. Workshop proceedings will be compiled in a summary document which will be published on-line to ensure that it reaches the largest possible audience.