Clinical Trial: Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Brief 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.
Detailed Summary:
Rett syndrome is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movement disorder, and growth failure. The diagnosis of Rett syndrome is based on consensus clinical criteria. Rett syndrome is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment.
Only a few improved cases have been reported concerning buspirone (Andaku, 2005, 1 patient), topiramate (Goyal, 2004, 8 patients), diazepam (Kurihara, 2001, 1 patient) and carnitin (Plochl, 2004, 1 patient).
Only one randomized study versus placebo has been published about a treatment by naltrexone including 25 patients. A light improvement of respiratory parameters was then observed with a deterioration of the cognitive function (Percy, 2004).
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.
Sponsor: Assistance Publique Hopitaux De Marseille
Current Primary Outcome: To study the efficacy of the desipramine on the respiratory disturbations [ Time Frame: 2 years ]
Original Primary Outcome: Same as current
Current Secondary Outcome: To study the safety of the desipramine in the studied population [ Time Frame: 2 years ]
Original Secondary Outcome: Same as current
Information By: Assistance Publique Hopitaux De Marseille
Dates:
Date Received: October 6, 2009
Date Started: October 2008
Date Completion:
Last Updated: August 6, 2015
Last Verified: August 2015
