Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.

CONTEXT: Autosomal dominant osteopetrosis (ADO) is a rare sclerotic bone disease characterized by impaired osteoclast activity, resulting in high bone mineral density and skeletal fragility. The full phenotype and disease burden on patients' daily lives has not been systematically measured.

OBJECTIVE

We developed an online registry to ascertain population-based data on the spectrum and rate of progression of disease and to identify relevant patient-centered outcomes that could be used to measure treatment effects and guide the design of future clinical trials.

METHODS

Cross-sectional data from participants with osteopetrosis were collected using an online REDCap-based database. Thirty-four participants with a confirmed diagnosis of ADO, aged 4-84 years were included. Participants aged 18 years and older completed the PROMIS 57, participants aged 8-17 years completed the PROMIS Pediatric 49, and parents of participants aged <18 years completed the PROMIS Parent Proxy 49.

RESULTS

Based on the PROMIS 57, relative to the general population, adults with ADO reported low physical function and low ability to participate in social roles and activities, and high levels of anxiety, fatigue, sleep problems, and pain interference. Daily pain medications were reported by 24% of the adult population. In contrast, neither pediatric participants nor their parent proxy reported a negative impact on health-related quality of life.

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.