Assessing disease experience across the life span for individuals with osteogenesis imperfecta

Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study

Laura L. Tosi, Marianne K. Floor, Christina M. Dollar, Austin P. Gillies, Brendan Lee, Sandesh C.S. Nagamani, Frank Rauch, Francis Glorieux, Jean Marc Retrouvey, Paul Esposito, Eric Rush, Michael Bober, David Eyre, Danielle Gomez, Gerald Harris, Mahim Jain, Deborah Krakow, Eric Orwoll, Cathleen Raggio, Peter Smith & 4 others Tracy S. Hart, David D. Cuthbertson, V. Reid Sutton, Jeffrey P. Krischer

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number23
JournalOrphanet Journal of Rare Diseases
Volume14
Issue number1
DOIs
StatePublished - Jan 29 2019

Fingerprint

Osteogenesis Imperfecta
Life Change Events
Information Systems
Registries
Health Status
Health Communication
Disease Management
Rare Diseases
Health Surveys
Research
Population
Patient Reported Outcome Measures
Decision Making
Patient Care
Therapeutics
Communication

Keywords

  • Health-related quality of life (HRQoL)
  • Osteogenesis imperfecta
  • Patient reported outcomes
  • Patient-reported outcome measurement information system® (PROMIS®)
  • Pediatric outcomes data collection instrument (PODCI)
  • Rare disease
  • Registry

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Assessing disease experience across the life span for individuals with osteogenesis imperfecta : Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study. / Tosi, Laura L.; Floor, Marianne K.; Dollar, Christina M.; Gillies, Austin P.; Lee, Brendan; Nagamani, Sandesh C.S.; Rauch, Frank; Glorieux, Francis; Retrouvey, Jean Marc; Esposito, Paul; Rush, Eric; Bober, Michael; Eyre, David; Gomez, Danielle; Harris, Gerald; Jain, Mahim; Krakow, Deborah; Orwoll, Eric; Raggio, Cathleen; Smith, Peter; Hart, Tracy S.; Cuthbertson, David D.; Sutton, V. Reid; Krischer, Jeffrey P.

In: Orphanet Journal of Rare Diseases, Vol. 14, No. 1, 23, 29.01.2019.

Research output: Contribution to journalArticle

Tosi, LL, Floor, MK, Dollar, CM, Gillies, AP, Lee, B, Nagamani, SCS, Rauch, F, Glorieux, F, Retrouvey, JM, Esposito, P, Rush, E, Bober, M, Eyre, D, Gomez, D, Harris, G, Jain, M, Krakow, D, Orwoll, E, Raggio, C, Smith, P, Hart, TS, Cuthbertson, DD, Sutton, VR & Krischer, JP 2019, '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 Journal of Rare Diseases, vol. 14, no. 1, 23. https://doi.org/10.1186/s13023-019-1004-x
Tosi, Laura L. ; Floor, Marianne K. ; Dollar, Christina M. ; Gillies, Austin P. ; Lee, Brendan ; Nagamani, Sandesh C.S. ; Rauch, Frank ; Glorieux, Francis ; Retrouvey, Jean Marc ; Esposito, Paul ; Rush, Eric ; Bober, Michael ; Eyre, David ; Gomez, Danielle ; Harris, Gerald ; Jain, Mahim ; Krakow, Deborah ; Orwoll, Eric ; Raggio, Cathleen ; Smith, Peter ; Hart, Tracy S. ; Cuthbertson, David D. ; Sutton, V. Reid ; Krischer, Jeffrey P. / Assessing disease experience across the life span for individuals with osteogenesis imperfecta : Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study. In: Orphanet Journal of Rare Diseases. 2019 ; Vol. 14, No. 1.
@article{cb78cefa5084473b856f056a0de33872,
title = "Assessing disease experience across the life span for individuals with osteogenesis imperfecta: Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study",
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{\circledR} (PROMIS{\circledR}) 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.",
keywords = "Health-related quality of life (HRQoL), Osteogenesis imperfecta, Patient reported outcomes, Patient-reported outcome measurement information system{\circledR} (PROMIS{\circledR}), Pediatric outcomes data collection instrument (PODCI), Rare disease, Registry",
author = "Tosi, {Laura L.} and Floor, {Marianne K.} and Dollar, {Christina M.} and Gillies, {Austin P.} and Brendan Lee and Nagamani, {Sandesh C.S.} and Frank Rauch and Francis Glorieux and Retrouvey, {Jean Marc} and Paul Esposito and Eric Rush and Michael Bober and David Eyre and Danielle Gomez and Gerald Harris and Mahim Jain and Deborah Krakow and Eric Orwoll and Cathleen Raggio and Peter Smith and Hart, {Tracy S.} and Cuthbertson, {David D.} and Sutton, {V. Reid} and Krischer, {Jeffrey P.}",
year = "2019",
month = "1",
day = "29",
doi = "10.1186/s13023-019-1004-x",
language = "English (US)",
volume = "14",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Assessing disease experience across the life span for individuals with osteogenesis imperfecta

T2 - Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study

AU - Tosi, Laura L.

AU - Floor, Marianne K.

AU - Dollar, Christina M.

AU - Gillies, Austin P.

AU - Lee, Brendan

AU - Nagamani, Sandesh C.S.

AU - Rauch, Frank

AU - Glorieux, Francis

AU - Retrouvey, Jean Marc

AU - Esposito, Paul

AU - Rush, Eric

AU - Bober, Michael

AU - Eyre, David

AU - Gomez, Danielle

AU - Harris, Gerald

AU - Jain, Mahim

AU - Krakow, Deborah

AU - Orwoll, Eric

AU - Raggio, Cathleen

AU - Smith, Peter

AU - Hart, Tracy S.

AU - Cuthbertson, David D.

AU - Sutton, V. Reid

AU - Krischer, Jeffrey P.

PY - 2019/1/29

Y1 - 2019/1/29

N2 - 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.

AB - 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.

KW - Health-related quality of life (HRQoL)

KW - Osteogenesis imperfecta

KW - Patient reported outcomes

KW - Patient-reported outcome measurement information system® (PROMIS®)

KW - Pediatric outcomes data collection instrument (PODCI)

KW - Rare disease

KW - Registry

UR - http://www.scopus.com/inward/record.url?scp=85060671112&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85060671112&partnerID=8YFLogxK

U2 - 10.1186/s13023-019-1004-x

DO - 10.1186/s13023-019-1004-x

M3 - Article

VL - 14

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

M1 - 23

ER -