Bone Abstracts

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved medical treatment for pediatric-onset hypophosphatasia (HPP), which is caused by deficient tissue-nonspecific alkaline phosphatase activity. We detail the long-term efficacy of AA observed from the pediatric clinical trial program.Methods: Efficacy data collected to study completion were pooled from 3 open-label, multicenter investigations of children who manifested HPP s...

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee radiographs as determined by rickets...

Introduction: The effect of vitamin D± calcium supplementation in children has traditionally been assessed using growth parameters, biochemical markers and radiographs.Objectives: To evaluate the utility of Bone Health Index (BHI), obtained using automated hand radiogrammetry, in assessing treatment effect in children participating in a vitamin D supplementation trial.Methods: In this double-blind placebo-controlled trial, Afg...

Background: Oral glucocorticoids (GC; prednisolone dose of 0.75 mg/kg per day), help to preserve muscle strength and prolong independent walking in boys with DMD. This study compared longitudinal growth, body mass index (BMI), bone mineral density (BMD), vertebral fractures (VFs) and ambulatory status in boys with DMD on daily (DAILY) or intermittent (INTER; 10 days on & 10 days off), oral GC regimens.Methods: 50 DMD boys from two UK centres were inc...

Background: Osteoporosis in children with osteogenesis imperfecta (OI) type 1 and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Aim: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective case note review of children...

Objectives: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. This paired randomised controlled pilot study assessed the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI.Methods: Twenty-four children (5–16 years) with OI types 1,4 and limited mobility (defined as a Childhood...

Background: Most patients with hypoparathyroidism are controlled under conventional treatment with calcium and vitamin D analogues. However, this treatment may be difficult to manage, especially in patients with ADHH who have an increased risk of nephrocalcinosis and chronic renal insufficiency. ADHH is caused by activating mutations in the calcium-sensing receptor (CaSR) resulting in suppressed PTH secretion and decreased calcium reabsorption within the thick ascending limb o...

Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...

Objectives: In XLH, FGF23-mediated hypophosphatemia leads to defective bone mineralization and rickets. Investigational product KRN23 binds FGF23 and inhibits its activity. The objective of this Phase 2 study was to evaluate the safety and efficacy of KRN23 in 52 children with XLH (ages 5–12 years, ≤Tanner 2).Methods: Patients were randomized to receive KRN23 biweekly (Q2W) or monthly (Q4W) by SC injection. KRN23 dose was titrated (maximum 2 m...

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...