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

Learn more about:
Related Clinical Trial
The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome Development of the ORCA Communication Measure for Rett Syndrome The Rett Syndrome Global Registry Open-Label Extension Study of Trofinetide for Rett Syndrome ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME Predictors of Caregiver Adaptation to Pervasive Developmental Disorders A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization An Open-label Extension Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome ANAVEX2-73 Study in Patients With Rett Syndrome Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Nutritional Aspects of Rett Syndrome Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Study of the Pathogenesis of Rett Syndrome Advanced Grandparental Age as a Risk Factor for Autism A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Biobanking of Rett Syndrome and Related Disorders Telehealth Support to Increase Physical Activity in Rett Syndrome Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome Natural History of Rett Syndrome & Related Disorders Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Study of ANAVEX2-73 in Patients With Rett Syndrome Trial of Dextromethorphan in Rett Syndrome Pharmacological Treatment of Rett Syndrome With Statins An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Analysis of the Glutathione Cycle in Children With Rett Syndrome Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome ‘Uptime’ Participation Intervention in Girls and Women With Rett Syndrome Functional Abilities in Rett Syndrome Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Effects of Creatine Supplementation in Rett Syndrome Metabolic Evaluation of Nutrition in Rett Syndrome Treatment of Rett Syndrome With Recombinant Human IGF-1 A Study to Evaluate Ketamine for the Treatment of Rett Syndrome Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms A Safety Study of NNZ-2566 in Patients With Rett Syndrome Genetic and Physical Characteristics of Rett Syndrome Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™) The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome The Findings of MR Imaging in Rett Syndrome Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome Patients With RETT Syndrome Creatine Metabolism in Rett Syndrome

Brief Title

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

Official Title

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

Brief 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.
    

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.
    

Study Phase

Phase 2

Study Type

Interventional


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

Condition

Rett Syndrome

Intervention

Administration of a high dose of desipramine

Study Arms / Comparison Groups

 Desipramine high dose
Description:  12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the 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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Drug

Estimated Enrollment

36

Start Date

February 17, 2009

Completion Date

August 21, 2017

Primary Completion Date

August 11, 2014

Eligibility 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.
      

Gender

Female

Ages

4 Years - 18 Years

Accepts Healthy Volunteers

No

Contacts

Josette Mancini, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT00990691

Organization ID

2007-37

Secondary IDs

2007-006739-30

Responsible Party

Sponsor

Study Sponsor

Assistance Publique Hopitaux De Marseille


Study Sponsor

Josette Mancini, Principal Investigator, Assistance Publique Hopitaux De Marseille


Verification Date

July 2018