TAMDMD

Duchenne muscular dystrophy (DMD) is the most frequent neuromuscular disease in children. DMD is a heriditary and affects about 1 in 3500 to 1 in 6000 boys. Patients suffer from progressive muscle wasting, respiratory and cardiac impairments and premature death. Currently, only symptomatic treatment with glucocorticoids is available; these have limited efficacy but many adverse effects.

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Most current research on therapeutics of DMD focuses on correcting the gene defect. However, as there are more than 250 mutations in the human dystrophin gene, this approach will treat only a small percentage of patients and would be expensive, i.e. 100.000-250.000 € per patient per year as compared to tamoxifen (TAM) (about 300 €).

Using the mouse DMD model, our partners in Geneva, (Dorchies et al. 2013), have shown that TAM, given orally for periods of 2 or 15 months at doses as low as 0.3mg/kg/day, resulted in almost full recovery of force and structure of muscles.

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TAM is a drug used since 1980 to treat breast cancer and hormonal disorders in pre-pubertal boys. There is a broad clinical evidence and reliable data suggesting a very good safety profile. Our aim is to investigate whether TAM treatment, compared to placebo, reduces the disease progression in DMD patients. We plan a randomized double blind placebo controlled 48-week clinical trial with a core population of 79 ambulant 6.5 to 12 years old DMD patients that are under stable standard treatment of care with glucocorticoids. Furthermore, we plan to include 16-20 non-ambulant patients who do not receive glucocorticoids, 10 to 16 years old, to obtain efficacy and safety data in a broader DMD population. All patients will receive 20 mg of TAM or placebo once daily during 48 weeks.