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

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Autosomal Dominant Osteopetrosis (ADO) Study Findings

Problem:

– ADO is a rare bone disease causing high bone density and skeletal fragility.
– Impact on patients’ daily lives not well understood.

Solution:

– Developed an online registry to collect data on disease progression and patient outcomes.
– Aim to measure treatment effects and guide future clinical trials.

Study Details:

– Collected data from 34 participants aged 4-84 with ADO using an online database.
– Assessed physical and mental health using standardized questionnaires.

Results:

– Adults with ADO reported low physical function, limited social participation, anxiety, fatigue, sleep problems, and pain interference.
– 24% of adults used daily pain medications.
– Pediatric participants and their parents did not report a negative impact on quality of life.