Les essais, en clair.

The purpose of this study is to investigate the efficacy of fenfluramine hydrochloride (HCl) versus placebo in study participants with Rett syndrome (RTT).

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.

The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the efficacy and safety of TSHA-102 at the selected dose.

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.

This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.

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, Genova, Siena, and Messina.

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.

To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls with Rett syndrome

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.

To investigate the efficacy of treatment with oral trofinetide versus placebo in females with Rett syndrome

Résumé ou traduction assisté par IA : peut contenir des erreurs et ne remplace ni une relecture humaine ni un avis médical.