Head of research of the University of Maastricht, Bert Smeets was recently interviewed in Algemeen Dagblad about the congres MDC1A The Road to therapy . Smeets, specialised in Mitochondrial dysfunction in metabolic, cardiovascular and neurological diseases, is highly impressed by the hard work and effort of Bram Verbrugge and Emine Kara. ,,The level of commitment of these people is very high, I’ve never seen this before in my life.”
MDC1A is rare, and therefore hardly adressed. A cure is not yet available, and the current treatment only alleviates the symptoms. However, thanks to the Sara Foundation, amongst others, research on the disease has started. A treatment for Sara’s disease – MCD1A – will be avalaible in three years, Smeets thinks. And that is a cautious estimate.About the much-anticipated treatment for Sara: The idea is to withdraw stem cells from patients themselves, exchange the faulty gene with a healthy version and reinject the cells into the patients. The altered cells will generate new, healthy muscle, counteracting the muscle weakness for an extended period of time.In Italy and the United States, animal tests offered very promising results thus far, as Smeets states in the article. He plans to test the muscle therapy on adults this fall. And does so for two reasons: testing whether the treatment is safe, and actually works on humans like it did on animals.