High-resolution peripheral quantitative computed tomography measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers
Authors' conclusion
Overall, the data reveal the profound, yet variable, phenotype in ADO and indicate that HR-pQCT measures correlate with disease severity and represent potential surrogate endpoints for future therapeutic trials.
Study context
- Population
- Adults with autosomal dominant osteopetrosis (ADO); High-resolution peripheral quantitative computed tomography (HR-pQCT) at distal ends and shafts of radius and tibiamatched 1:3
- Participants
- 48 vs 144
- Exposure
- Adults with ADO vs matched controls
- ADOn = 48
- Controlsn = 144reference
- Outcome
- HR-pQCT bone outcomes, ADO vs controls
- Follow-up
- Baseline
Methodological detailsbaseline data from an ongoing natural history study, matched controls (1, 3 ratio)
- Baseline data from an ongoing natural history study
- Matched controls (1, 3 ratio)
Main finding
As reported in the abstract
- Distal-site values often approaching or exceeding twice those in controls
- Considerable interindividual variability; some normal z-scores, others z-scores exceeding +20
- Cortical volumetric bone mineral density (vBMD) normal; tissue mineral density normal-to-lower in ADO
- ADO vs Controls: all p<0.001
- ADO vs Controls: all p<0.05
Observational data: associations, not effects.
Further findings
Correlation of HR-pQCT outcomes with lifetime fracture number (distal and shaft sites)
- Spearman ρ
- 0.64-0.75
- P
- P < 0.001
- Self-reported fracture history
Correlation of HR-pQCT outcomes with bone turnover markers
- Inverse correlation with serum C-telopeptide; positive correlation with serum TRAP 5b
Original publication
High-resolution peripheral quantitative computed tomography measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers. J Bone Miner Res. Published 12 July 2026. doi:10.
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