Osteogenesis imperfecta (OI) is a severe, congenital disease most often caused by a mutation in the collagen gene. This results in brittle bones that are prone to fractures, even before birth. Children born with severe OI suffers from repeated fractures and stunted growth resulting in physical disabilities. Breathing and pulmonary function can for example be affected by an improperly developed ribcage. There is currently no cure for OI.
Unique studies by Dr Cecilia Götherström at Karolinska Institutet have shown that transplantation of mesenchymal stem cells can improve improve growth and reduce fractures in children with OI. Dr Götherström is coordinating the Boost Brittle Bones Before Birth (BOOSTB4) study funded under Horizon2020 and by the Swedish Research Council that will investigate if stem cell transplantation before and after birth can improve the symptoms of OI even further.
CPNP is a collaboration partner in BOOSTB4 and will be responsible for commercialization strategies and regulatory support.