NCT00990691

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
36

participants targeted

Target at P25-P50 for phase_2

Timeline
Completed

Started Feb 2009

Longer than P75 for phase_2

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 17, 2009

Completed
8 months until next milestone

First Submitted

Initial submission to the registry

October 6, 2009

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 7, 2009

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 11, 2014

Completed
3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

August 21, 2017

Completed
Last Updated

July 26, 2018

Status Verified

July 1, 2018

Enrollment Period

5.5 years

First QC Date

October 6, 2009

Last Update Submit

July 25, 2018

Conditions

Rett Syndrome

Keywords

Rett syndrome

Outcome Measures

Primary Outcomes (1)

  • To study the efficacy of the desipramine on the respiratory disturbations

    2 years

Secondary Outcomes (1)

  • To study the safety of the desipramine in the studied population

    2 years

Study Arms (3)

Desipramine high dose

EXPERIMENTAL

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.

Drug: Administration of a high dose of desipramine

Desipramine low dose

EXPERIMENTAL

12 patients with Rett syndrome receiving a daily dose of desipramine correlated with the weight : * From 15 to 25 kg : 25 mg ; * From 26 to 35 kg : 50 mg ; * From 36 to 45 kg : 75 mg ; * \> 46 kg : 100 mg.

Drug: Administration of a low dose of desipramine

Placebo

PLACEBO COMPARATOR

12 patients with Rett syndrome receiving a daily dose of placebo.

Drug: Administration of a placebo

Interventions

Administration of a high dose of desipramineDRUG

Administration of a daily dose of desipramine correlated with the patient's 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.

Desipramine high dose
Administration of a low dose of desipramineDRUG

Administration of a daily dose of desipramine correlated with the patient's weight : * From 15 to 25 kg : 25 mg ; * From 26 to 35 kg : 50 mg ; * From 36 to 45 kg : 75 mg ; * \> 46 kg : 100 mg.

Desipramine low dose
Administration of a placeboDRUG

Administration of a daily dose of placebo

Placebo

Eligibility Criteria

Age4 Years - 18 Years
Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Rett syndrome;
  • Girls weighing less than 60 kg;
  • Respiratory alteration;
  • Diagnosis of Rett syndrome confirmed by MECP2 genotyping (Xq28).

You may not qualify if:

  • Boys;
  • Pregnancy and breath feeding;
  • Case history of status epilepticus;
  • Patient treated by IMAO or sultopride;
  • Hepatic or renal failure.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Assistance Publique - Hopitaux de Marseille

Marseille, France

Location

Related Publications (1)

  • Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallee L, Bahi-Buisson N, Truillet R, Attolini L, Villard L, Blin O, Micallef J. Effect of desipramine on patients with breathing disorders in RETT syndrome. Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb.

    PMID: 29468173DERIVED

MeSH Terms

Conditions

Rett Syndrome

Interventions

Desipramine

Condition Hierarchy (Ancestors)

X-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHeredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

DibenzazepinesHeterocyclic Compounds, 3-RingHeterocyclic Compounds, Fused-RingHeterocyclic Compounds

Study Officials

  • Josette Mancini

    Assistance Publique Hopitaux De Marseille

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
RANDOMIZED
Masking
DOUBLE
Who Masked
PARTICIPANT, INVESTIGATOR
Purpose
TREATMENT
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 6, 2009

First Posted

October 7, 2009

Study Start

February 17, 2009

Primary Completion

August 11, 2014

Study Completion

August 21, 2017

Last Updated

July 26, 2018

Record last verified: 2018-07

Locations

FR(1)