Faculty Collaboration Database

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis 2019 Jan 29;14(1):23

Date

01/31/2019

Pubmed ID

30696467

Pubmed Central ID

PMC6350324

DOI

10.1186/s13023-019-1004-x

Scopus ID

2-s2.0-85060671112 (requires institutional sign-in at Scopus site)   29 Citations

Abstract

BACKGROUND: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.

RESULTS: We demonstrated the construct validity of PROMIS instruments in OI. Our results confirm that the scores from most domains differ significantly from the general US population: individuals with OI have worse symptom burden and functioning. We found no excessive floor or ceiling effects. Our study demonstrates that the BBDC Contact Registry can be used to recruit participants for online health status surveys. However, there are numerous challenges that must be addressed: lack of self-knowledge of OI type, under-representation of men, limited ethnic diversity, and imperfect questionnaire completion rates.

CONCLUSION: Our pilot study demonstrated the feasibility of using a contact registry to recruit respondents from the OI community and to obtain analyzable PROMIS data regarding disease experience. Because the results differ from the general population and avoid excessive floor and ceiling effects, PROMIS instruments can be used to assess response to therapeutic interventions in individuals with OI. Future directions will include (1) development and validation of an OI-specific patient-based classification system that aggregates persons with similar clinical characteristics and risks for complications to identify treatment needs; and (2) integrating these PRO tools into routine patient care and research studies.

Author List

Tosi LL, Floor MK, Dollar CM, Gillies AP, Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP

Author

Gerald Harris PhD Director in the Orthopaedic Research Engineering Center (OREC) department at Marquette University

MESH terms used to index this publication - Major topics in bold

Adolescent
Age Factors
Child
Child, Preschool
Clinical Decision-Making
Female
Humans
Male
Osteogenesis Imperfecta
Pilot Projects
Quality of Life
Rare Diseases
Sex Factors