Causes et traitements de l'ostéoporose héréditaire chez l'enfant et l'adolescent

Chercheurs-boursiers cliniciens- Senior | Concours 2012-2013

Frank Rauch

Hôpital Shriners pour l'enfant


Domaine : Appareil locomoteur et arthrite

Osteoporosis is not only a disease of old age but can also cause frequent fractures in children and adolescents. In this young age group, osteoporosis is often caused by genetic mutations and thus is heritable. 
My research program has two main objectives. The first is to find 'new' genetic factors that give rise to heritable osteoporosis and to analyze how these genetic factors lead to bone fragility. This will provide important information for eventually developing new therapeutic approaches. The second objective is to improve the symptomatic treatment of heritable osteoporosis by means that are already available today. 

Recent work has shown that osteogenesis imperfecta type VI, a severe form of heritable osteoporosis, is caused by the lack of a protein called PEDF. The first study of my research program will analyze the role of this protein during skeletal development. The second study targets families in which several members suffer from heritable osteoporosis but do not have any abnormalities in currently available genetic tests. We will undertake analyses to find the genetic cause of osteoporosis in these families. 
My research program also includes two therapeutic studies. The first study will evaluate the effect of intravenous infusions with anti-sclerostin antibodies in a mouse model. This treatment has shown encouraging effects in adults suffering from osteoporosis and could also be effective in youth with heritable osteoporosis. Finally, a study on 60 young patients with heritable osteoporosis will compare the effects of high-dose vitamin D supplementation with standard-dose vitamin D.
The ultimate aim of this research program is to normalize skeletal development in children and adolescents suffering from heritable osteoporosis.