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"New start" for energy metabolism - hope for people with rare diseases

Reprogramming of cells reveals therapeutic approaches

With the reprogramming of somatic cells, scientists hope to come a step closer to a therapy and even a cure for Leigh syndrome.

Researchers from the CureMILS network, in which IMP is a partner, have developed cell differentiation technologies which can then be used to better understand and evaluate the effect of drugs on areas of the brain that are particularly affected in MILS patients. In addition to this work, the project has developed an extensive "substance library" and have been able to test more than 5,500 active substances for which extensive safety and efficacy data already exists. Based on this cumulative work, Dr. Markus Schülke, Professor of Exper- imental Neuropaediatrics at the Charité in Berlin, was able to successfully use sildenafil on a young MILS patient who had been in a coma for several weeks.  "The patient recovered quickly under the therapy and was able to breathe and move on his own again," reports Schülke.

Based on the preclinical and clinical data, sildenafil received an orphan drug designation, which will help in designing a clinical trial to determine its efficacy. "We have provided a kind of 'research pipe- line' for the repositioning of drugs and shown that the parallel investigation of extensive substance collections can lead to results much faster than was the case in the past," summarises Alessandro Prigione.

This disease model points the way to effective treatment of MILS and could also be applicable to other rare and previously incurable diseases.

To read more on this exciting work, click here

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