Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study
Authors' conclusion
Data from this registry demonstrate the broad spectrum of ADO disease severity and high impact on health-related quality of life in adults with ADO.
Study context
- Population
- Participants with confirmed autosomal dominant osteopetrosis (ADO), aged 4–84 years; adults completed PROMIS 57, ages 8–17 PROMIS Pediatric 49, parents of those <18 PROMIS Parent Proxy 49
- Participants
- 34 participants
- Outcome
- PROMIS health-related quality of life
Methodological detailsregistry-based, online REDCap-based database
- Registry-based
- Online REDCap-based database
Main finding
As reported in the abstract
- Adults with ADO vs general population (PROMIS 57): low physical function and low ability to participate in social roles and activities; high anxiety, fatigue, sleep problems and pain interference
- Neither pediatric participants nor their parent proxy reported a negative impact on health-related quality of life
Observational data: associations, not effects.
Further findings
Daily pain medication use, adults
- Adults reporting daily pain medications
- 24%
Original publication
Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study. J Clin Endocrinol Metab. Published 25 April 2024. doi:10.
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