Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Status:
Completed
Trial end date:
2017-08-21
Target enrollment:
Participant gender:
Summary
Rett syndrome is a neurodevelopmental disorder characterized by cognitive impairment,
communication dysfunction, stereotypic movement disorder, and growth failure. Rett syndrome
is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment.
A mouse experimental model of Rett syndrome created by genetic invalidation of the MECP2 gene
is available. It had been then observed that adult MECP2-deficient mice show respiratory
alterations and found that endogenous noradrenaline helps to maintain a normal respiratory
rhythm. Desipramine, a selective inhibitor of norepinephrine reuptake, seems to be efficient
to reduce the respiratory alteration occuring in MECP2-deficient mice (Insem patent 2005,
Villard and Roux 2006).
The aim of the study is to evaluate these obtained results in MECP2-deficient mice on
patients with Rett syndrome.