Pilot Study of the Effects of the Desipramine on the Neurovegetative

Status Completed

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.

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00990691
Study type	Interventional
Source	Assistance Publique Hopitaux De Marseille
Contact
Status	Completed
Phase	Phase 2
Start date	February 17, 2009
Completion date	August 21, 2017

View Details

See also
Status	Clinical Trial	Phase
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Not yet recruiting	`NCT04041713` - A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome	Phase 2
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Completed	`NCT02705677` - Biobanking of Rett Syndrome and Related Disorders
Terminated	`NCT02790034` - Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms	Phase 2/Phase 3
Enrolling by invitation	`NCT03655223` - Early Check: Expanded Screening in Newborns
Recruiting	`NCT05932589` - Neurophysiologic Biomarkers in Rett Syndrome
Recruiting	`NCT04463316` - GROWing Up With Rare GENEtic Syndromes
Completed	`NCT04776746` - Open-Label Extension Study of Trofinetide for Rett Syndrome	Phase 3
Completed	`NCT04181723` - Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™)	Phase 3
Enrolling by invitation	`NCT03836300` - Parent and Infant Inter(X)Action Intervention (PIXI)	N/A
Completed	`NCT04514549` - ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME
Terminated	`NCT02562820` - An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome	Phase 1
Completed	`NCT02738281` - Natural History of Rett Syndrome & Related Disorders
Completed	`NCT05687214` - Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome	N/A
Recruiting	`NCT06199700` - Esketamine for the Treatment of Rett Syndrome	Early Phase 1
Completed	`NCT03941444` - ANAVEX2-73 Study in Patients With Rett Syndrome	Phase 3
Recruiting	`NCT06346106` - The Diagnostic Experience of Male Rett Syndrome

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms