BOOSTB4 - Boost Brittle Bones Before Birth
Osteogenesis Imperfecta (OI) is a debilitating inherited disorder with prenatal onset leading to osteopenia (a medical condition in which the protein and mineral content of bone tissue is reduced) and bone brittleness. Affected children and adults suffer from repeat, multiple bone fractures, requiring hospitalisation and surgery, and often leading to irreversible deformities.
The severity of the condition varies from mild to lethal. Type 2B and 3 are the most severe forms in children surviving the neonatal period, manifesting with short stature and multiple painful fractures, spinal deformities and kyphoscoliosis (curvature of the spine) predisposing them to premature respiratory death in the most severely affected cases. OI type 4 results in short stature and deformities.
We are conducting a clinical trial with the aim to improve the health of children with brittle bone disease (Osteogenesis Imperfecta, OI). In the trial, stem cells will be given to young children diagnosed with OI. There will be two different trial groups who receive stem cell infusions in this trial. The postnatal group will receive four infusions after birth up to 12 months of age. The children in the prenatal group will receive one stem cell infusion before birth followed by three infusions after birth. To be able to better evaluate the results of the stem cells infusions, we will also compare the children who receive this infusion with children with OI type 3 or severe type 4, who have not received stem cell infusions. The prospective comparison group will consist of children diagnosed with OI whose parents have declined the stem cell infusion but agreed to have information about their child collected. This group will receive the routine treatments. The historical control group consists of children of ages up to 10 years that are diagnosed with OI type 3 or severe type 4 and have been treated with routine treatments including bisphosphonates.
Diagnosis & Treatment
OI is most commonly diagnosed during the fetal anomaly ultrasound scan that is performed mid-pregnancy in EU countries, at this time the characteristic shortened long bones and fractures are already present and detectable. There is no cure for OI and the only current pharmaceutical treatments are palliative and fail to reduce fracture frequency and address the underlying bone brittleness and collagen defect.
Using Stem Cells to Improve Therapy
The BOOSTB4 project is focused on translating fetal-derived mesenchymal stem cell (MSC) transplantation into the clinic as a therapy for Osteogenesis Imperfecta. During the project we will investigate the safety and efficacy of this innovation in regenerative medicine in the treatment of OI. Successful clinical demonstration of the BOOSTB4 therapy in OI will pave the way for the treatment of many developmental fetal disorders. Curing or decreasing the severity of these congenital diseases will result in life-long benefits for the affected individuals and their families from birth onwards.