Bones - as delicate as glass. This is the key symptom of osteogenesis imperfecta, also known as brittle bone disease. Sometimes all it takes is a careless movement, a twitch, a gentle bump and a bone breaks. Many patients have to sit in a wheelchair, are short in stature and have deformities of the spine.
Osteogenesis imperfecta is a genetic disease that leads to severely reduced bone density. Around 5,000 people live with the disease in Germany. Bone fractures mainly occur in childhood and adolescence – sometimes even in the womb. In severe cases, patients experience up to 60 fractures. In adulthood, the symptoms decrease and the bones become more stable. But adults also suffer heavily from their disease: Due to the many fractures, the bones deform, so that standing and walking is often not possible.
The scientist and pediatrician Professor Dr. Oliver Semler from the Department of Pediatrics and Adolescent Medicine at the University Hospital of Cologne and his team discovered a new form of brittle bone disease. They revealed that a mutation in a specific gene is responsible for this subgroup of the disease. In this particular form, the standard therapy - the administration of bisphosphonates - to reduce bone fractures has a poor effect. Professor Oliver Semler applied a new antibody, which is actually approved for the treatment of senile osteoporosis, to his patients. With success: their symptoms improved. In 2012, Oliver Semler received the Eva Luise Köhler Research Award for his findings.
With the award money from the foundation, the scientists were able to initiate a clinical trial - with the aim of testing whether the new drug also helps patients with other forms of brittle bone disease. The new therapy is much more comfortable for patients. The drug is only injected under the skin every three months, whereas the classic drug has to be administered as an infusion for two days. This is a strenuous procedure, especially for children and adolescents, and is associated with school absences and inpatient stays. The researchers are currently in the process of making the new therapy available to patients and promoting a registration trial for the drug. One thing has already been proven: The new drug is also effective in the classic form of brittle bone disease. Professor Dr. Oliver Semler: "In the future, it could be an enrichment of the therapeutic options for the patients and make their lives a little easier."