Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
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| ClinicalTrials.gov Identifier: NCT00990691 |
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Recruitment Status :
Completed
First Posted : October 7, 2009
Last Update Posted : July 26, 2018
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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 or disease | Intervention/treatment | 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 |
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 Type : | Interventional (Clinical Trial) |
| Actual Enrollment : | 36 participants |
| Allocation: | Randomized |
| Intervention Model: | Parallel Assignment |
| Masking: | Double (Participant, Investigator) |
| Primary Purpose: | Treatment |
| Official Title: | Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome |
| Actual Study Start Date : | February 17, 2009 |
| Actual Primary Completion Date : | August 11, 2014 |
| Actual Study Completion Date : | August 21, 2017 |
| Arm | Intervention/treatment |
|---|---|
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Experimental: Desipramine high dose
12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the weight :
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Drug: Administration of a high dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight :
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Experimental: Desipramine low dose
12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the weight :
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Drug: Administration of a low dose of desipramine
Administration of a daily dose of desipramine correlated with the patient's weight :
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Placebo Comparator: Placebo
12 patients with Rett syndrome receiving a daily dose of placebo.
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Drug: Administration of a placebo
Administration of a daily dose of placebo |
- To study the efficacy of the desipramine on the respiratory disturbations [ Time Frame: 2 years ]
- To study the safety of the desipramine in the studied population [ Time Frame: 2 years ]
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| Ages Eligible for Study: | 4 Years to 18 Years (Child, Adult) |
| Sexes 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00990691
| France | |
| Assistance Publique - Hopitaux de Marseille | |
| Marseille, France | |
| Principal Investigator: | Josette Mancini | Assistance Publique Hopitaux De Marseille |
| Responsible Party: | Assistance Publique Hopitaux De Marseille |
| ClinicalTrials.gov Identifier: | NCT00990691 |
| Other Study ID Numbers: |
2007-37 2007-006739-30 |
| First Posted: | October 7, 2009 Key Record Dates |
| Last Update Posted: | July 26, 2018 |
| Last Verified: | July 2018 |
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Rett syndrome |
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Rett Syndrome Syndrome Disease Pathologic Processes Mental Retardation, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System |
Desipramine Antidepressive Agents, Tricyclic Antidepressive Agents Psychotropic Drugs Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action Adrenergic Uptake Inhibitors Neurotransmitter Uptake Inhibitors Membrane Transport Modulators Adrenergic Agents Neurotransmitter Agents Physiological Effects of Drugs |