Wir überwinden Grenzen

Nikodem is 16 months old. He suffers from a rare, fatal muscle disease. For a long time, doctors were only able to alleviate the symptoms of affected children. But now a new drug is being tested that is showing promising results.

Nikodem's family travels to Freiburg every four months - for a therapy that is vital for Nikodem's survival. The boy, who is not even two years old, suffers from a particularly severe form of spinal muscular atrophy (SMA), a rare disease that only occurs in one in 10,000 newborns each year. His entire body is affected by the muscle weakness. He cannot lift and hold his head on his own. Without therapy, he will never learn to sit or walk. His respiratory muscles are also increasingly weakened. Normally, children like Nikodem do not even reach toddler age.

The disease is caused by a genetic defect. It leads to motor nerve cells in the spinal cord atrophying and thus no longer being able to transmit impulses to the muscles. The less used muscle cells are broken down, resulting in muscle atrophy. Until now, there has been no treatment for the cause of SMA. Only the symptoms could be alleviated. Respiratory therapy is used to support the lungs; physiotherapy is used to maintain joint mobility.

First medication that really helps

But there is hope for Nikodem's family. A new drug has been on the US market since December 2016 and is currently undergoing approval in Germany. Studies, in which the team led by Prof. Janbernd Kirschner, Senior Consultant at the Clinic for Neuropaediatrics and Muscular Diseases, was also involved, are showing positive results. "After decades of research, we finally have a drug with which we can positively influence the severe course of the disease in infants," says Prof. Kirschner.

As the approval process usually takes months, a so-called hardship program has been set up. The University Medical Center Freiburg is one of the few institutions allowed to treat children with the new drug. The condition is that these children already showed symptoms during the first six months of life. Nikodem is one of the patients.

He now regularly visits Freiburg with his family. The drug is injected into his spinal canal through a puncture needle at the level of the lumbar spine (lumbar puncture). It takes three days to prepare and monitor the therapy. The effect is already visible. Nikodem's motor skills are developing much better than those of children who are not treated with the drug. This gives his family hope.