Bone Abstracts

Extreme high bone mass (HBM) may be monogenic (e.g. LRP5 mutations) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine how variation in established BMD loci, in different functional pathways, explains the HBM phenotype.241 unexplained HBM cases (lumbar spine(LS)1+total hip(TH) Z-scores≥+4.4) were recruited from 15 UK centres, by screening...

see PP31....

Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...