View clinical trials related to Osteogenesis Imperfecta.
Filter by:Assess the postoperative functional outcomes after surgical correction of skeletal deformities of lower limbs in osteogenesis imperfecta patients as regard ambulation status, postoperative complications and reoperation rate.
An exploratory, open label, multiple dose, phase I/II trial (n=15) evaluating safety and efficacy of intravenous and intraosseous infusion of allogeneic expanded fetal mesenchymal stem cells (MSC) for the treatment of severe Osteogenesis Imperfecta (OI) compared with historical and untreated prospective controls.
The primary objective of this study is to evaluate the pharmacokinetics (PK) profile following multiple subcutaneous (SC) doses of romosozumab in children and adolescents with Osteogenesis Imperfecta (OI).
The proposed investigation is a pilot study that involves pediatric patients affected by spinal deformity (Adolescent Idiopathic Scoliosis and Osteogenesis Imperfecta). The main goal is to evaluate the acceptability, the safety and the overall satisfaction of the patients wearing the back braces produced with an innovative methodology using 3D printers, compared to the current braces manufactured with a production model based on thermoforming, that has well-established clinical efficacy.
Brittle bone disease also known as osteogenesis imperfecta (OI) is characterised by a defect in the bone tissue that leads to recurrent fractures and significant bone deformities in children. These fractures include vertebral (spinal) fractures. As a result, child with OI require regular clinic surveillance that includes repeated xrays of the spine. in our pilot study the investigators plan to use a thermal imaging camera that can pick up changes in temperature to 0.03 degrees to determine whether the investigators can accurately identify vertebral fractures without the need for radiation. in the first part of the study the investigators will compare the thermal images from the camera with the xrays to see if the investigators can pick up the vertebral fractures seen on the xray picture. If this is possible, then the investigators will move on to phase 2 of the study which will investigate the ability of the thermal camera to pick up vertebral fractures without prior knowledge of where the fractures are located. If this approach is successful this will help us to develop a nonradiation, lowcost painless way of identifying vertebral fractures in children with OI.
Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations to the alpha-1 or alpha-2 chain of type I collagen. Clinically, the disorder is characterized by bones that fracture easily, often from little or no apparent trauma. There is no information about Some institutions perform blood pressure monitoring on these patients with a cuff, while other institutions avoid this method due to concern for fracture. Instead, they use alternative forms of monitoring such as an arterial line. These methods come with their own risks, including clotting, decreased perfusion, and pain. In addition, arterial lines require intensive (and more expensive) monitoring in a pediatric intensive care unit due to risk of dislodgement and rapid blood loss. These blood pressure monitoring recommendations for patients with OI do not appear to be based on strong evidence. Anecdotally, some patients and healthcare professionals report hearing about individuals with OI who have suffered fractures from blood pressure cuffs. However, this is not well documented in the medical literature. Regular and accurate blood pressure monitoring is particularly important in the postoperative period, due to blood loss and fluid shifts, as well as utilization of advanced pain management techniques that can potentially impact blood pressure.
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with OI-related hearing loss also present with otosclerosis and because of their mechanistic similarities, the investigators propose studying the effects of bisphosphonate treatment on individuals diagnosed with both OI type I and hearing loss, thereby determining its effectiveness as a potential treatment for hearing loss. The investigators will enroll 50 individuals diagnosed with type I OI and age 18-100. 25 adults will be enrolled into the treatment arm and receive bisphosphonate treatment (must have at least mild hearing loss), while 25 adults will be enrolled into the control arm. The investigators will enroll 25 children (6-17 years of age) diagnosed with OI who are currently receiving bisphosphonate treatment as part of their care for orthopedic symptoms. The investigators will also observe 25 children (6-17 years of age) diagnosed with OI who are NOT currently receiving bisphosphonate treatment. The study duration is 63 months (approximately 5 years). Enrollment is anticipated to begin in November 2019.
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.
ROI is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.
Osteogenesis Imperfecta (OI) is a heterogeneous group of rare connective tissue hereditary diseases responsible for fragility and bone deformity. OI is caused by an autosomal dominant mutation of COL1A1 or COL1A2, encoding α1 and α2 of the collagen, regardless of their phenotypic severity (1 to 5 OI type). This observation suggests the existence of a undetermined mechanism that may be found in epigenetic regulation, including particularly micro Ribonucleic Acids (miRs). Indeed, these small non-coding miRs are involved in the regulation of major steps of cellular processes in different pathologies, especially in bone disease. Currently, no study can provide a satisfactory answer. This is an etiologic study to reveal the correlation between micro-RNAs (miR) expression and the type I or III of the Osteogenesis Imperfecta (OI). The aim of this study is therefore to identify miRs significantly associated with the severity of OI.