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Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome

Information source: Assistance Publique Hopitaux De Marseille
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.

Condition(s) targeted: Rett Syndrome

Intervention: Administration of a high dose of desipramine (Drug); Administration of a low dose of desipramine (Drug); Administration of a placebo (Drug)

Phase: Phase 2

Status: Completed

Sponsored by: Assistance Publique Hopitaux De Marseille

Official(s) and/or principal investigator(s):
Josette Mancini, Principal Investigator, Affiliation: Assistance Publique Hopitaux De Marseille

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.

Clinical Details

Official title: Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome

Study design: Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Investigator), Primary Purpose: Treatment

Primary outcome: To study the efficacy of the desipramine on the respiratory disturbations

Secondary outcome: To study the safety of the desipramine in the studied population

Detailed description: 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.

Eligibility

Minimum age: 4 Years. Maximum age: 18 Years. Gender(s): Female.

Criteria:

Inclusion Criteria:

- Rett syndrome;

- Girls weighing less than 60 kg;

- Respiratory alteration;

- Diagnosis of Rett syndrome confirmed by MECP2 genotyping (Xq28).

Exclusion Criteria:

- Boys;

- Pregnancy and breath feeding;

- Case history of status epilepticus;

- Patient treated by IMAO or sultopride;

- Hepatic or renal failure.

Locations and Contacts

Assistance Publique - Hopitaux de Marseille, Marseille, France
Additional Information

Starting date: October 2008
Last updated: August 6, 2015

Page last updated: August 23, 2015

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