Effect of desipramine on patients with breathing disorders in RETT syndrome

Annals of Clinical and Translational Neurology
Josette ManciniJoëlle Micallef

Abstract

Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2-deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in 36 girls with RTT. The trial was a 6-month, multicenter, randomized, double-blind, placebo-controlled study registered with ClinicalTrials.gov, number NCT00990691. Girls diagnosed according to clinical examination and confirmed by genotyping were randomly assigned in a 1:1:1 ratio to receive 2-3 mg/kg Desipramine per day (high Desipramine), 1-2 mg/kg Desipramine per day (low Desipramine), or a placebo. The primary outcome was the change of apnea hypopnea index (AHI), defined by the number of apnea and hypopnea events per hour, assessed at 6 months from baseline. Intention-to-treat analysis was applied. The median change in AHI from baseline to 6 months was -31 (IQR: -37 to -11) for the high Desipramine, -17.5 (IQR: -31 to 13) for the low Desipramine, and -13 (IQR:-31 to 0) for the placebo group. We did not find any significant difference in these changes between the groups (P = 0.781). A signif...Continue Reading

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Citations

Aug 2, 2018·Orphanet Journal of Rare Diseases·Jatinder Singh, Paramala Santosh
Aug 15, 2019·International Journal of Molecular Sciences·Silvia VidalJudith Armstrong
Jan 17, 2019·Brain : a Journal of Neurology·Abhishek BanerjeeWalter E Kaufmann
Sep 30, 2020·Journal of Neurodevelopmental Disorders·Javier Flores GutiérrezEnrico Tongiorgi
Feb 6, 2020·Journal of Autism and Developmental Disorders·Mohan GomathiVellingiri Balachandar
Mar 2, 2019·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Neeti Vashi, Monica J Justice
Mar 25, 2019·Trends in Pharmacological Sciences·Rocco G Gogliotti, Colleen M Niswender

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Methods Mentioned

BETA
genotyping

Clinical Trials Mentioned

NCT00990691

Software Mentioned

SAS
AMASTSIGROUP
ApneaLink
Excel
EpiData base

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