Bone Abstracts

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

We recruited 60 healthy volunteers ages 5 to 21 to perform scan-rescan precision tests on the XtremeCT II. Participants were positioned in a carbon fiber immobilization cast. iPad-based video content was used to facilitate motion-free compliance. Distal radius and tibia scans were acquired starting 2 mm proximal to the proximal margin of the growth plate or growth plate remnant. Diaphyseal radius and tibia scans were centered at an offset from the same landmark, corresponding ...

Children with cystinosis have numerous risk factors for impaired bone accrual. We used state-of-the-art quantitative imaging of bone microarchitecture (HR-pQCT) to measure trabecular and cortical microstructure and bone strength in children and adolescents (5-20yrs) with cystinosis. We enrolled 20 cystinosis patients and recruited 34 healthy age- and gender- matched controls. Distal radius and tibia HR-pQCT scans (XtremeCT II, Scanco Medical) were acquired 2...

Objectives: Lysosomal diseases (LDs) are a heterogenous group of 40+ genetic disorders that can affect virtually all organs and systems, including the skeletal system. They are often caused by the loss of an enzyme critical for the breakdown of macromolecules in the lysosome, leading to accumulation of these substrates and subsequent lysosomal dysfunction. Enzyme replacement therapy (ERT) is the primary treatment option for many LDs, but several issues hinder the efficacy of t...

Objectives: To compare and contrast the natural history of osteoporosis and response to zoledronate in children and adolescents with Duchene muscular dystrophy (DMD), spinal muscular atrophy (SMA) or other congenital muscular dystrophies (CMD).Methods: A retrospective medical record review of fracture history, treatment and bone mineral densitometry of children managed at a tertiary centre in Sydney over the last 6 years.Results: A...

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...

Background: Children and adolescents with cerebral palsy (CP) experience musculoskeletal complications including spinal deformities, hip dysplasia and disuse osteoporosis. Bisphosphonates can improve bone mineral density, prevent fragility fractures. It is unclear if prior bisphosphonate use modifies post-operative complication in children with CP. Our aim was to compare surgical complications in children with CP with and without previous bisphosphonate treatment.<p class=...

Objective: The potential for clinical trials to impact patient care may be limited if the outcomes reported vary by trial and lack direct relevance to patients. We aimed to systematically assess the scope and consistency of outcomes reported in randomised trials of interventions for children with osteogenesis imperfecta.Methods: We systematically searched for all published and unpublished randomised trials of interventions for children with osteogenesis ...

Objectives: To evaluate the effect of 24 weeks of weight bearing vibration therapy (WBVT) on muscle strength, motor function and bone health in children with congenital myopathies.Methods: A prospective pilot study incorporating a six month observational period followed by 6 months home-based WBVT (Galileo® Pro) was undertaken. Ambulant children with congenital myopathies aged 4–16 years were eligible for inclusion. Participants were assessed a...