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

Rett Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00990691
• Other study ID #: 2007-37
• Secondary ID: 2007-006739-30
• Status: Completed
• Phase: Phase 2
• Start date: February 17, 2009
• Est. completion date: August 21, 2017

Study information

• Verified date: July 2018
• Source: Assistance Publique Hopitaux De Marseille
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 36
• Est. completion date: August 21, 2017
• Est. primary completion date: August 11, 2014
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 4 Years to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Rett Syndrome
• Syndrome

Intervention

Drug:
• Administration of a high dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight : From 15 to 25 kg : 50 mg ; From 26 to 35 kg : 75 mg ; From 36 to 45 kg : 100 mg ; > 46 kg : 150 mg.
• Administration of a low dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight : From 15 to 25 kg : 25 mg ; From 26 to 35 kg : 50 mg ; From 36 to 45 kg : 75 mg ; > 46 kg : 100 mg.
• Administration of a placebo
Administration of a daily dose of placebo

Locations

Country	Name	City	State
France	Assistance Publique - Hopitaux de Marseille	Marseille

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique Hopitaux De Marseille

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To study the efficacy of the desipramine on the respiratory disturbations		2 years
Secondary	To study the safety of the desipramine in the studied population		2 years