Bones – as delicate as glass. This is the core 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 of short stature and have deformities of the spine.
The Disease
Osteogenesis imperfecta is a genetic disease. Patients suffer from reduced bone density. The bones are not stable and break as easily as glass. Around 5000 people in Germany live with the disease. The 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 diminish and the bones become more stable. However, adults also suffer greatly from the disease: due to the many fractures, the bones often become deformed, making standing and walking impossible.
The Research
The scientist and paediatrician Professor Dr Oliver Semler from the Department of Paediatrics and Adolescent Medicine at the University Hospital of Cologne and his team have discovered a new form of brittle bone disease. The scientists discovered 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 is not very effective. Professor Dr Oliver Semler used a new antibody, which is actually approved for the treatment of senile osteoporosis, on patients with this condition. With success: the patients’ symptoms improved. Oliver Semler received the Eva Luise Köhler Research Award in 2012 for his findings.
The Future
The scientists were able to use the foundation’s award money to initiate a clinical trial – with the aim of testing whether the new drug also helps patients with other forms of brittle bone disease. This is because 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 stressful procedure, especially for children and adolescents, and involves missing school and hospitalisation. The researchers are currently in the process of making the new therapy available to patients and pushing ahead with a registration study for the drug. Because one thing has already been proven: The new drug is also effective in the classic form of brittle bone disease. Professor Dr Oliver Semler: ‘It could enrich the therapeutic options for patients in the future and make their lives a little easier.’
