Sirolimus for Tuberous sclerosis complex | Epilepsy | TSC-associated tumors

Inclusion criteria

• {"criterion_text":"- Male or female aged up to 16 weeks (41-56 weeks of gestational age) at the day of randomization\n- Parents/caregivers are willing to and able to give informed consent form for the participation in the study\n- Parents/caregivers are willing to and able to comply with all study requirements\n- Definite diagnosis of TSC according to the Consensus criteria (Northrup,2013)\n- At least 1 focus of cortical dysplasia disclosed on brain MRI"}

Exclusion criteria

• {"criterion_text":"- history of seizures prior to randomization\n- live vaccination within 4 weeks prior to randomization\n- lack of first hepatitis B vaccination\n- Any significant clinical, laboratory , ECG or other abnormalities, comorbidity or concomitant treatment which, in the opinion of the investigator, may either put a patient at significant risk associated with the participation in the study or may influence the results of the study.\n- Use of an investigational drug within 1 month prior to randomization\n- history of antiepileptic treatment\n- history of treatment with mTOR inhibitor\n- gestational age below 41 weeks at the day of randomization\n- body weight lower than 3 kg at the day of randomization\n- SEGA or other TSC- associated lesion requiring urgent surgical intervention\n- recent surgery within 1 month prior to the randomization\n- intercurrent infection at the date of randomization\n- known history of HIV seropositivity"}

Primary endpoints

• {"endpoint_text":"- occurrence of clinical seizures in the blinded phase of the study","definition_or_measurement_approach":""}
• {"endpoint_text":"- increase in summarized volume of TSC-associated tumors ≥ 25% of initial value within the blinded phase of the study.","definition_or_measurement_approach":"Increase in summarized tumor volume by ≥25% compared with baseline within the blinded phase of the study."}

Secondary endpoints

• {"endpoint_text":"- time from birth to onset of first clinical epileptic seizure","definition_or_measurement_approach":"Measured as elapsed time (days/months) from birth to first observed clinical epileptic seizure."}
• {"endpoint_text":"- total volume of TSC-associated tumors within the blinded phase and the whole study","definition_or_measurement_approach":"Measurement of total tumor volume during the blinded phase and across the entire study (change from baseline assessed)."}
• {"endpoint_text":"- the risk for high risk of autism assessed with psychological test (ADOS) at the end of the study","definition_or_measurement_approach":"Autism risk assessed using the ADOS psychological assessment at study end."}
• {"endpoint_text":"- the risk for low developmental quotient (< 70 points in Bayley Scales of Infant Development,) at the end of the study,","definition_or_measurement_approach":"Developmental quotient measured using Bayley Scales of Infant Development; threshold <70 points."}
• {"endpoint_text":"- the risk of drug-resistant epilepsy at any point of the study","definition_or_measurement_approach":"Assessment of occurrence of drug-resistant epilepsy during study follow-up."}
• {"endpoint_text":"- occurrence of adverse events within the blinded phase of the study,","definition_or_measurement_approach":"Recording and classification of adverse events occurring during the blinded phase."}
• {"endpoint_text":"- number of adverse events across the whole study","definition_or_measurement_approach":"Count of all adverse events reported throughout the entire study period."}
• {"endpoint_text":"- parameters of physical development (weight and height gain history) across the whole study.","definition_or_measurement_approach":"Serial measurements of weight and height across study visits to assess physical development."}
• {"endpoint_text":"- Parameters of vital signs (body temperature, pulse rate, respiraton rate and blood pressure)","definition_or_measurement_approach":"Vital signs measured (body temperature, pulse, respiratory rate, blood pressure) per study schedule."}

Poland

Earliest CTIS Part Ii Submission Date

07-11-2024

Latest Decision Or Authorization Date

25-02-2025

Processing Time Days

110

Number Of Sites

2

Number Of Participants

60

Primary sponsor

Full Name

Instytut Pomnik Centrum Zdrowia Dziecka

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Poland

Third parties

• {"country":"Poland","full_name":"Instytut Pomnik Centrum Zdrowia Dziecka","duties_or_roles":"PK testing, EEG, imaging diagnostics","organisation_type":"Hospital/Clinic/Other health care facility"}
• {"country":"Poland","full_name":"Uniwersytet Medyczny W Lodzi","duties_or_roles":"genetic testing, biomarkers analysis","organisation_type":"Educational Institution"}
• {"country":"Poland","full_name":"Transition Technologies Science","duties_or_roles":"","organisation_type":"Industry"}