ArticleThe Journal of clinical endocrinology and metabolism2025
Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
contextAutosomal 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.
objectiveWe 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.
methodsCross-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.
resultsBased 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.
conclusionData from this registry demonstrate the broad spectrum of ADO disease severity and high impact on health-related quality of life in adults with ADO.
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Registered trials
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