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Osteogenesis imperfecta (OI) is a rare genetic disorder of increased bone fragility and low bone mass. It is conceivable that children and adolescents with OI are less active than healthy peers because of frequent fractures, immobilization,functionals limitations and no adapted physicals activity(APA). The hypothesis is that an Adapted physique activity could improve access of activity for patients with Osteogenesis Imperfecta (OI).
The aim of the study is to evaluate benefice of APA,improve aerobic capacity, cardiovascular and bone benefits, and gain of quality of life.
Children with OI between 6 and 18 years old will have a program of supervised "adapted training program" during one year. The program is adapted at each individual and without risk for the patient.
Adapted sports practices
Not yet recruiting
Hospices Civils de Lyon
Published on BioPortfolio: 2019-10-15T11:11:26-0400
The purpose of this study is to learn about pregnancy outcomes in osteogenesis imperfecta (OI). Patients enrolled in the Brittle Bone Disorders (BBD) Contact Registry (CR) will be invited ...
To evaluate long-term safety of denosumab in subjects with pediatric osteogenesis imperfecta(OI) completing Study 20130173.
The purpose of this study is to investigate the effect of BPS804 on strength/quality of bone in patients with Type I, III or IV Osteogenesis imperfecta using a special type of CT scanner. ...
Alendronate should be considered as an alternative therapy of osteogenesis imperfecta (OI) because it significantly increased areal bone mineral density (BMD) and its Z score, decreased fr...
The study is designed to evaluate the efficacy and safety of "Bisphosphonate Therapy for Osteogenesis Imperfecta (OI)." We, the researchers at Indiana University School of Medicine, are ch...
Retrospective clinical study of individuals with osteogenesis imperfecta (OI).
The purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for thi...
To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established...
Osteogenesis imperfecta (OI) is a genetic disorder commonly associated with osteopenia, osteoporosis, bone fractures, bone deformities, and other clinical features. A frequent radiologic finding with ...
With increased access to genetic testing, variants of uncertain significance (VUS) where pathogenicity is uncertain are being increasingly identified. More than 85% Osteogenesis Imperfecta (OI) patien...
Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
An Sp transcription factor that contains three CYS2-HIS2 ZINC FINGERS. It binds to GC RICH SEQUENCES and performs an essential function in regulating gene expression for differentiation of OSTEOBLASTS. Mutations in the SP7 gene are associated with type 12 OSTEOGENESIS IMPERFECTA.
Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery.
The field of veterinary medicine concerned with PHYSICAL FITNESS of animals in sports (horse racing, dog racing, etc.) and the diagnosis and treatment of sports injuries in animals.
Illegitimate use of drugs for a desired effect in competitive sports; includes humans and animals.
Osteoporosis is a disease in which the bones become extremely porous, are subject to fracture, and heal slowly, occurring especially in women following menopause and often leading to curvature of the spine from vertebral collapse. Follow and track&n...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...