Bone Abstracts

Muscle size and function are closely correlated with skeletal development. Examining the relationship between muscle and bone is thus of central interest in clinical bone research. Surprisingly, however, there is little information on how to evaluate the functional muscle-bone relationship in clinical studies. Many past studies on muscle–bone interaction seem to have analyzed muscle and bone measures that were convenient to collect but did not evaluate a specific model of...

Biographical DetailsFrank Rauch trained as a pediatrician at the Children’s Hospital of Cologne University, Germany, where he started working on pediatric bone disorders in Dr Schoenau’s laboratory. He then performed a research fellowship on metabolic bone disorders at the Shriners Hospital for Children, Montreal, Canada. Since 2001 he has been a clinician scientist at the Shrin...

Osteogenesis imperfecta (OI) is usually caused by dominant mutations affecting one of the two genes that code for two collagen type 1, but a recessive form of OI is present in 5–10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that play a role in the processing of collagen type 1 protein (BMP1, CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, SERPINF1, SERPINH1, PLOD2, SEC24D, and TMEM38B), or interfere with ost...

Biographical DetailsDr Frank Rauch obtained his MD degree from the Technical University of Munich, Germany, and trained as a pediatrician at the Children’s Hospital of Cologne University, Germany. Since 2001 Dr F Rauch has been a clinician-scientist at the Shriners Hospital for Children and is currently a Professor of Pediatrics at McGill University, Montreal, Canada. His clinical an...

Pediatric bone health research is rapidly expanding. As many bone disorders in children are rare, the field benefits from the attention that rare disorders in general are currently receiving. Consequently, new approaches for treating bone diseases in children have been developed and are being studied in clinical trials. The treatment of hypophosphatasia with bone-targeted enzyme replacement therapy is one of the most advanced programs in this area. New studies on this approach...

Biographical DetailsFrank RauchFrank Rauch, MD, is a Professor of Pediatrics and clinician-scientist at the Shriners Hospital for Children and at McGill University. His clinical activities and research program concentrate on improving bone health in children, with a special focus on genetic conditions leading to fractures and on the role of the musc...

Objective: Osteogenesis imperfecta (OI) is primarily characterized by bone fragility but is also associated with lower muscle mass and function. As muscle mass and bone mass are closely linked, an intervention that increases muscle mass should also increase bone mass. Here we investigated the effect of a novel activin receptor IIB ligand trap, ACE-2494 (Acceleron Pharma), on skeletal muscle mass and bone properties in a mouse model of severe dominant OI, the Col1a1<su...

Osteogenesis imperfecta (OI) is not only characterized by fragile bones but also impaired muscle mass and function. Inhibition of signaling through the activin receptor IIB has the potential to improve both muscle and bone mass. Here we investigated the effect of a soluble activin receptor IIB ligand, ACE-2494 (10 mg/kg twice a week), in 4-week old Col1a1Jrt/+ male mice, a model of severe dominant OI caused by a Col1a1 splice site mutation. Four weeks of treatment with ACE-249...

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Children with osteogenesis imperfecta (OI) still suffer from frequent fractures, despite bisphosphonate treatment. Thus new therapeutic approaches are needed. Sclerostin is a protein that is thought to inhibit bone formation. Treatment with sclerostin antibodies (SclAB) increases bone mass in animal models and in clinical trials and may be a rational therapy for OI as well.Transgenic (TgOI) Col1a1Jrt/+ mice were gene...