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
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