Condition: RETT Syndrome With Proven MECP2 Mutation · Sponsor: University of Trieste
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 and efficacy for mood, sleep, and motor symptoms, particularly hand control. Other ares of investigation include autonomic function, behavior, caregiver burden, clinical severity, and neuronal plasticity and metabolic biomarkers. Patients will receive escalating doses of MTZ oral solution: initial low doses (3.75-15 mg/day) for two weeks, followed by optimal doses (7.5-30 mg/day) for six months. Safety, tolerability, and symptoms will be monitored over 10 months (3-month screening, 6-month treatment, 1-month follow-up). The study is conducted at four Italian RTT-specialized hospitals, led by the University of Trieste. Partner sites are in Italy, specifically at the hospitals in Milan, Genov…
This description comes directly from the study's public registry record.
Enrico Tongiorgi, PhD · +39 348 73477322 · tongi@units.it
Always discuss trial participation with your own doctor first.
| Unità di Neuropsichiatria Infantile, IRCCS, Istituto Giannina Gaslini, Genova | Genova, Italy | Recruiting |
| UOC di Neuropsichiatria Infantile, Policlinico Universitario "Gaetano Martino" di Messina, University of Messina. Messina | Messina, Italy | Recruiting |
| Centro Epilessia - Unità Neurologia Pediatrica, ASST Ospedale Santi Carlo Paolo - Dipartimento Scienze della Salute, Università di Milano | Milan, Italy | Recruiting |
| Unità di Pediatria, Dipartimento della Donna e dei Bambini - Policlinico S. M. alle Scotte. Siena | Siena, Italy | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07430046