Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases

NCT05199402 | Completed

• 1 other identifier: HJ-20-EPISTOP-IDEAL
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

Tuberous sclerosis complex (TSC), affecting 1 in 6.000 live births, is characterized by the development of multisystem tumors. Seizures are frequent up to 80% of individuals. They usually start in infancy and are often drug resistant, with a high risk of intellectual disability and autism spectrum disorders. In animal models, preventive treatment before seizures onset significantly decreased the risk of epilepsy as well as associated comorbidities. EPISTOP randomized clinical trial (RCT) aimed to validate the effect of preventive therapy in patients with TSC diagnosed before clinical seizures with abnormal EEG, versus late standard therapy of epilepsy, administered after the seizures onset. This preventive therapy resulted in a significant better outcome in seizures and co-morbidities. However, this trial included few patients and did not allow to fully explore the secondary endpoints. Our goal within EPISTOP-IDEAL project is to benefit from joining clinical expertise of EPISTOP project and experts from IDEAL EU project on methodologies for CTs in small populations in order to consolidate the results of EPISTOP CT using uncertainty evaluation of the existing data of randomized and observational arms and adding important information from external data collected after EPISTOP ended. This collaboration aims to an optimal use of all available data (RCT, observational and external data collected with the same protocol). The goal is to demonstrate the added value of these methodologies in TSC CT and to their further use to rare epilepsies, and other rare diseases.

Conditions

Tuberous Sclerosis; Epilepsy

Outcome Measures

Primary Outcomes (1)

• Time between birth and onset of seizures

  To consolidate the primary outcome of the EPISTOP trial using the assessment of bias and external data, namely the impact of preventive treatment with vigabatrin on the time to first first epileptic seizure.

  2 years

Secondary Outcomes (8)

• The duration of active epilepsy

  2 years

• The number of individuals with active epilepsy at 2 years old

  2 years

• The number of individuals with drug-resistant epilepsy at 2 years old

  2 years

• The number of individuals with EEG abnormalities at 2 years old

  2 years

• The psychomotor development at 24 months

  through study completion, an average of 2 years

Eligibility Criteria

• Age: 4 Months - 2 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

patients from birth to 24 months, who have been followed for tuberous sclerosis with the inclusion criteria with non-opposition

You may qualify if:

• Patients followed from 2013 to 2021 at the reference center for rare epilepsies with a diagnosis of tuberous sclerosis of Bourneville (based on Roach criteria and/or pathogenic variant identified in TSC1 or TSC2)
• Start of follow-up at the reference center for rare epilepsies before the age of 4 months

You may not qualify if:

• objection from their legal representatives
• Antiepileptic treatment before or at the time of study entry

Sponsors & Collaborators

• Imagine Institute: lead
• RWTH Aachen University: collaborator
• Ruhr University of Bochum: collaborator
• Medical University of Warsaw: collaborator

Study Sites (1)

Rima Nabbout

Paris, 75015, France

Location

MeSH Terms

Conditions

Tuberous Sclerosis; Epilepsy

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Brain Diseases; Central Nervous System Diseases

Study Officials

• Rima Nabbout, MD, PhD

  Hôpital Necker

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 18, 2021
• First Posted: January 20, 2022
• Study Start: July 1, 2021
• Primary Completion: March 31, 2022
• Study Completion: October 1, 2023
• Last Updated: January 15, 2025

Record last verified: 2025-01

Locations

FR (1)