Repurposing Mirtazapine in Rett Syndrome
Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by an MECP2 gene mutation on the X chromosome, primarily affecting females. It causes progressive motor and cognitive decline, loss of speech, repetitive hand movements, breathing issues, seizures, and sleep problems. Given RTT's association with reduced
| Condition(s) | RETT Syndrome With Proven MECP2 Mutation |
|---|---|
| Status | Recruiting |
| Phase | Phase 2 |
| Study type | Interventional |
| Summary | Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by an MECP2 gene mutation on the X chromosome, primarily affecting females. It causes progressive motor and cognitive decline, loss of speech, repetitive hand movements, breathing issues, seizures, and sleep problems. Given RTT's association with reduced monoamine levels, antidepressants like mirtazapine (MTZ) may help.Preclinical studies in MeCP2-mutant mice and early adult RTT trials showed that MTZ improved respiratory, motor, and neurological function, sleep, and mood, prompting this pediatric and young adult study. The MirtaRett trial is a multicenter, open-label, single-arm, phase II study enrolling 54 female RTT patients (ages 5-40), divided into groups of 18 (5-10, 11-17, 18-40 years). It aims to evaluate MTZ's safety |
| Who can participate | INCLUSION CRITERIA * 1\. Female aged 5 to 39 years inclusive, at the time of signing the informed consent. * 2\. Girls of childbearing age negative to pregnancy test; * 3\. Body weight \> 10 kg. and within the expected range for RTT, based on age and height. * 4\. Diagnosis of RTT based on consensus clinical criteria (Neul, 2010) and a confirmed mutation in MECP2 gene. * 5\. Breathing dysfunction (at least one of the following): period apnoea, intermittent hyperventilation, breath holding spells, air swallowing, forced expulsion of air and /or saliva. * 6\. Ten episodes or more/day of breathing dysfunction during wakefulness in the week prior to the screening visit (parents report). 7\. Stable medication regimen for 4 weeks prior to beginning the study (if receiving services - physical, oc |
| Ages | 5 Years to 40 Years |
| Sex | Female |
| Lead sponsor | University of Trieste |
| Locations | Genova, Italy; Messina, Italy; Milan, Italy; Siena, Italy |
| Start date | 2025-07-09 |
| NCT ID | NCT07430046 |
| Official listing | https://clinicaltrials.gov/study/NCT07430046 |