Repurposing mirtazapine in Rett syndrome: a multicentric open label Phase II study (MirtaRett Study).

University Of Trieste4 sites in 1 country54 target enrollmentStarted: February 14, 2025Last updated: February 14, 2025

Trial Snapshot

Phase: Phase 2
Status: Recruiting
Sponsor: University Of Trieste
Enrollment: 54
Locations: 4
Primary Endpoint: The rating scale used is the Motor-Behavior Assessment Scale (MBAS). The drug will be considered effective if the treatment decreases the Motor-Behavior Assessment Scale (MBAS) score (maximum score=68) by at least 8.5 points (12.5%) compared to baseline.

Study Overview Eligibility Criteria Outcomes Investigators Sites Records & Identifiers Similar Trials

Study Overview

Brief Summary

The study aims to evaluate the efficacy of Mirtazapine (MTZ) to induce improving changes in social behaviour, orofacial/respiratory and motor/physical area. This study will provide information on what symptoms will Mirtazapine be able to correct, depending on the age and severity of the subject.

Eligibility Criteria

Ages: 0 years to 64 years (0-17 Years, 18-64 Years)
Sex: Female
Accepts Healthy Volunteers: Yes

Inclusion Criteria

•Female patients aged > 5 years
•The caregiver is able to understand the purpose of the protocol and to cooperate in the study
•Body weight > 10 kg
•Diagnosis of RTT confirmed by MECP2 gene mutation
•Respiratory dysfunction (at least one of the following): periodic apnoea, intermittent hyperventilation, breath holding, swallowing of air, forced expulsion of air and/or saliva
•Ten or more episodes per day of respiratory dysfunction during wakefulness in the week preceding the screening visit (reported by the caregiver)
•Stable medication regimen for 4 weeks prior to the start of the study
•Females of childbearing age only with negative pregnancy test
•Written consent signed by parent/legal guardian/representative prior to screening visit
•The patient is cooperative, willing and able to complete the study with caregiver assistance

Exclusion Criteria

•They are participating in another investigational clinical trial
•Hypersensitivity to MTZ
•Clinically significant (as determined by the investigator) cardiovascular, respiratory, gastrointestinal, renal, hepatic, haematological pathologies or other pathologies, in addition to those directly related to RTT. In particular, patients with the following parameters will be excluded: leucocyte count is < 4000/mm2; neutrophil count is < 2000/mm3; hyponatremia (< 125 mmol/L); renal dysfunction (creatinine > 2 X ULN), hepatic dysfunction (AST, ALT, bilirubin > 2 X ULN); or if severe diabetes mellitus is present
•QTcF interval at ECG > 450 msec
•Scheduled surgery during the study
•Severe diabetes mellitus (hyperglycaemia with values above 250/300 mg/dL)
•Pregnancy, breastfeeding
•Evidence of clinically significant malnutrition with BMI (or BMI) (kg/m2) <13

Outcomes

Primary Outcomes

The rating scale used is the Motor-Behavior Assessment Scale (MBAS). The drug will be considered effective if the treatment decreases the Motor-Behavior Assessment Scale (MBAS) score (maximum score=68) by at least 8.5 points (12.5%) compared to baseline.

Secondary Outcomes

The drug will be considered effective if the treatment reduces the overall Anxiety, Depression, and Mood Scale (ADAMS) score (maximum score=84) by at least 10.6 points (12.5%) and reduces the overall Rett Syndrome Behaviour Questionnaire (RSBQ) score by at least 11.25 points (12.5%)
The drug will be considered effective if the treatment improves the measurements obtained from the medical devices for remote sensing (Youcare Smart T-shirt and the Actigraphy), and the Sleep disturbances scale for children (SDSC) scores by at least 20% compared to the initial value
The drug will be considered effective if the Purposeful Hand Function scale (PHF) score increases at least 2 points above the baseline score.
The drug will be considered effective if the Clinical Global Impression of Change scale (CGI-C) has a score decrease at least 1 point
The drug will be considered effective if the Rett Syndrome Severity Scale (RCSS) scores decrease at least 3%, i.e. by 2 points
The assessment will be performed through measurements of thoracic and abdominal respiratory movements, airflow, arterial oxyhaemoglobin saturation (HbSaO2), heart rate and posture
The rating scale used will be the Parenting Stress Index (PSI-SF). An improvement in parental stress will be considered as such, if the Parenting Stress Index (PSI-SF) shows a reduction of at least 20%
The effectiveness of the drug will be assessed by considering a 20% increase from baseline in serum levels of the biomarkers BDNF, GDNF and PDGF

Investigators

Sponsor

University Of Trieste

Sponsor Class

Educational Institution

Responsible Party

Principal Investigator

Enrico Tongiorgi

Scientific

University Of Trieste

Study Sites (4)

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