Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Recruitment status was Recruiting
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Purpose
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.
| Condition | Intervention | Phase |
|---|---|---|
|
Rett Syndrome |
Drug: Administration of a high dose of desipramine Drug: Administration of a low dose of desipramine Drug: Administration of a placebo |
Phase 2 |
| Study Type: | Interventional |
| Study Design: | Allocation: Randomized Endpoint Classification: Safety/Efficacy Study Intervention Model: Parallel Assignment Masking: Double Blind (Subject, Investigator) Primary Purpose: Treatment |
| Official Title: | Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome |
- To study the efficacy of the desipramine on the respiratory disturbations [ Time Frame: 2 years ] [ Designated as safety issue: Yes ]
- To study the safety of the desipramine in the studied population [ Time Frame: 2 years ] [ Designated as safety issue: Yes ]
| Estimated Enrollment: | 36 |
| Study Start Date: | October 2008 |
| Estimated Primary Completion Date: | October 2010 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
Experimental: Desipramine high dose
12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the weight :
|
Drug: Administration of a high dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight :
|
|
Experimental: Desipramine low dose
12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the weight :
|
Drug: Administration of a low dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight :
|
|
Placebo Comparator: Placebo
12 patients with Rett syndrome receiving a daily dose of placebo.
|
Drug: Administration of a placebo
Administration of a daily dose of placebo
|
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| Ages Eligible for Study: | 4 Years to 18 Years |
| Genders Eligible for Study: | Female |
| Accepts Healthy Volunteers: | No |
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.
Contacts and Locations| Contact: Josette Mancini | josette.mancini@ap-hm.fr |
| France | |
| Assistance Publique - Hopitaux de Marseille | Recruiting |
| Marseille, France | |
| Contact: Josette Mancini josette.mancini@ap-hm.fr | |
| Principal Investigator: Josette Mancini | |
| Principal Investigator: | Josette Mancini | Assistance Publique Hopitaux De Marseille |
More Information
No publications provided
| Responsible Party: | Assistance Publique - Hopitaux de Marseille, Direction de la recherche |
| ClinicalTrials.gov Identifier: | NCT00990691 History of Changes |
| Other Study ID Numbers: | 2007-37, 2007-006739-30 |
| Study First Received: | October 6, 2009 |
| Last Updated: | October 6, 2009 |
| Health Authority: | France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis) |
Keywords provided by Assistance Publique Hopitaux De Marseille:
|
Rett syndrome |
Additional relevant MeSH terms:
|
Rett Syndrome Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Mental Retardation, X-Linked Mental Retardation Neurobehavioral Manifestations Neurologic Manifestations Genetic Diseases, X-Linked Genetic Diseases, Inborn Desipramine Enzyme Inhibitors |
Molecular Mechanisms of Pharmacological Action Pharmacologic Actions Antidepressive Agents, Tricyclic Antidepressive Agents Psychotropic Drugs Central Nervous System Agents Therapeutic Uses Adrenergic Uptake Inhibitors Adrenergic Agents Neurotransmitter Agents Neurotransmitter Uptake Inhibitors Physiological Effects of Drugs |
ClinicalTrials.gov processed this record on May 22, 2013