Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community

• DOI: 10.1007/s00198-018-4690-7
• Publication Date: 2018-09-06T05:26:46Z
• Authors: T. Swezey; B.B. Reeve; T.S. Hart; M.K. Floor; C.M. Dollar; A.P. Gillies; L.L. Tosi
• Keywords: Adult; Male; 0301 basic medicine; Aging; Community-Based Participatory Research; Health Knowledge, Attitudes, Practice; Biomedical Research; Psychometrics; Short Communication; Respiratory Tract Diseases; Osteogenesis Imperfecta; 16. Peace & justice; 3. Good health; 03 medical and health sciences; Fractures, Spontaneous; Rare Diseases; Quality of Life; Humans; Female; Patient Reported Outcome Measures; Hearing Loss

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups leaders the adult OI community identified a broad range medical priorities beyond fractures and brittle bones. Our work underscores need to include patient-reported outcomes in rare bone disease research. Osteogenesis (OI) genetic disorder affecting collagen protein leading bones number other complications. To date, there life-long process aging this disease, much less perspective OI. In order explore prioritize that adults feel have been inadequately addressed care research, investigators held discussions from global community. The meetings were August 2017 at 13th International Conference on Oslo, Norway as part preconference seminar "Patient Participation Research". Investigators Brittle Bone Disease Consortium (BBDC), multicenter program devoted study OI, their focus was (PRO). Participants noted while are most common feature body systems under-studied disorder. They particularly emphasized breathing, hearing, effects primary researchers physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, basilar invagination. also they must be informed results. underscored outcome measures incorporated into future drug trials look consider whole patient. This will help guide incorporation PROs next phase BBDC Natural History Study importance including diseases.