Duchenne muscular dystrophy (DMD) is a severe disease affecting boys, characterised by rapid progression of muscle degeneration so that boys as young as 10 to 12 years of age have to use a wheelchair, and leading to death in young men. In Germany, about 2500 children and young adults suffer from DMD. Paediatricians assume that one boy in 7000 newborn babies will develop DMD in his first few years of life.
In the first phase of the double-blind, randomised study, half of the young patients were treated with the immunosuppressive drug cyclosporin (without cortisone) for three months; the other 50 per cent received a placebo. The investigators hoped to find out whether cyclosporin had an effect on the muscle at all. Neither patients nor doctors knew who received the drug and who received a placebo. In the second phase of the trial, the patients received low doses of prednisone (a man-made cortisone replica) for twelve months, combined with either cyclosporin or a placebo drug. The results of the study, eagerly awaited by patients and doctors, will most likely be available in November. Nine German hospitals, together with one Austrian and one Swiss partner, participated in the trial. However, the BMBF funds would not have been sufficient to test the therapy. “The BMBF funds financed the posts of 1.5 staff members, but were insufficient for a clinical study,” recalls Korinthenberg who finally decided to contact Novartis executives. Financial support from Novartis, “Benni & Co”, a parent self-help group, and the German Society for Patients with Muscle Disorders (DGM) enabled the trial to go ahead. Novartis provided cyclosporin free of charge and also produced the placebo. “Benni & Co.” and DGM supported the project with research funds and supported the doctors in recruiting the large number of 150 patients, a number that is necessary to obtain a statistically relevant result. It was not difficult to recruit enough children for the study. “Duchenne is a deadly disease and the parents see the health of their children getting worse and worse. A trial like this one offers hope. The parents are keen to do something and see that something is happening,” said Korinthenberg. In order to help the young patients as effectively as possible, a European network for neuromuscular diseases has been established, also involving Dr. Korinthenberg in Freiburg and many of his colleagues across Europe.