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

Publication ,  Journal Article
Swezey, T; Reeve, BB; Hart, TS; Floor, MK; Dollar, CM; Gillies, AP; Tosi, LL
Published in: Osteoporos Int
February 2019

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

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Published In

Osteoporos Int

DOI

EISSN

1433-2965

Publication Date

February 2019

Volume

30

Issue

2

Start / End Page

507 / 511

Location

England

Related Subject Headings

  • Respiratory Tract Diseases
  • Rare Diseases
  • Quality of Life
  • Psychometrics
  • Patient Reported Outcome Measures
  • Osteogenesis Imperfecta
  • Male
  • Humans
  • Hearing Loss
  • Health Knowledge, Attitudes, Practice
 

Citation

APA
Chicago
ICMJE
MLA
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Swezey, T., Reeve, B. B., Hart, T. S., Floor, M. K., Dollar, C. M., Gillies, A. P., & Tosi, L. L. (2019). Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int, 30(2), 507–511. https://doi.org/10.1007/s00198-018-4690-7
Swezey, T., B. B. Reeve, T. S. Hart, M. K. Floor, C. M. Dollar, A. P. Gillies, and L. L. Tosi. “Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.Osteoporos Int 30, no. 2 (February 2019): 507–11. https://doi.org/10.1007/s00198-018-4690-7.
Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, et al. Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int. 2019 Feb;30(2):507–11.
Swezey, T., et al. “Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.Osteoporos Int, vol. 30, no. 2, Feb. 2019, pp. 507–11. Pubmed, doi:10.1007/s00198-018-4690-7.
Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, Tosi LL. Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int. 2019 Feb;30(2):507–511.
Journal cover image

Published In

Osteoporos Int

DOI

EISSN

1433-2965

Publication Date

February 2019

Volume

30

Issue

2

Start / End Page

507 / 511

Location

England

Related Subject Headings

  • Respiratory Tract Diseases
  • Rare Diseases
  • Quality of Life
  • Psychometrics
  • Patient Reported Outcome Measures
  • Osteogenesis Imperfecta
  • Male
  • Humans
  • Hearing Loss
  • Health Knowledge, Attitudes, Practice