Rett Syndrome is a genetic disease of the central nervous system in girls that is characterized by a normal physical development during the first months of life, but followed by periods of pronounced regression along with a combination of neurological signs.
All these anomalies in development are due to a mutation of the gene MEPC2 (which represents between 70 and 90% of cases). The gene MECO2 is located on the long arm of the chromosome X, which therefore makes it a disease related to X.
Within the frame of a study, mice, carriers of a mutation of the gene MECP2, were submitted to a treatment based on mecasermin (recombinant growth factor, analogous to human insulin). It enabled the researchers to improve many clinical characteristics of these mice, animal models for Rett Syndrome.
After these first encouraging results, an experimental treatment was carried out on 12 girls living with mutations of the gene MECP2 (9 of whom were carriers of Rett Syndrome) in order to observe its harmlessness and security. Furthermore, a preliminary assessment of its effectiveness enabled the researchers to perfect the study by using cardiorespiratory measuring, a series of clinical assessments and questionnaires.
During 20 weeks, the patients received the treatment, which induced no incidents related to hypoglycaemia nor any serious undesirable effects. The treatment turned out to be effective concerning cardiorespiratory measures, particularly in the improvement of apnoea. What’s more, some neurobehavioral parameters, in particular measures concerning anxiety and humour, improved during the experimentation.
This study shows that mecasermin is well tolerated, and thus opens the way for a new treatment in the years to come. An important advancement in the treatment of this rare disease related to X.
The Jérôme Lejeune Foundation develops and funds research programmes on genetic intelligence diseases in France and abroad.
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