Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents

NCT05126914 | Recruiting

• 1 other identifier: P210776
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 11

Brief Summary

Rare epilepsies as a whole account for 20-30% of epilepsies, but knowledge about prognostic factors is currently limited. This means that it is difficult to provide adequate information to families at diagnosis and during follow-up. Prognostic factors are also important for management as they can have an impact on the patient's outcome (time to intervention, choice of one molecule over another, etc.). Finally, few treatments are currently available for these epilepsies. One of the limitations to the development of treatments is the lack of real life data as it is difficult to create reliable primary endpoints such as the rate of patients becoming seizure free naturally compared to a therapeutic intervention. The aim of this real-life study is to evaluate the response to treatment as well as to see the evolution of cognitive and psychiatric comorbidities. As explained above, there are very few randomised trials except for 3 rare epilepsies (infantile spasm syndrome, Dravet syndrome, Lennox-Gastaut syndrome). This has led to the virtual absence of management recommendations, including for the three syndromes mentioned above, where attempts at treatment algorithms have been proposed, although these have not been able to be considered as evidence-based recommendations. As a result, there is some diversity in the management of rare epilepsies from one centre to another. However, this diversity in management can be an asset in a real-life study. This will make it possible to compare different management methods, both in terms of seizure control and medium-term outcome.

Conditions

Epilepsy; West Syndrome; Dravet Syndrome

Outcome Measures

Primary Outcomes (1)

• rate of decrease in epileptic seizures

  rate of decrease in epileptic seizures according to the treatments used based on the seizure calendar kept by the parents as part of the current care.

  5 years

Eligibility Criteria

• Age: Up to 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The population studied in this work will be a pediatric population: from birth to the end of adolescence. There is no limitation in the epileptic syndromes provided that it is a rare epilepsy according to the waxers with a prevalence of 1 in 2000. As mentioned here on several occasions, there is little data on it. efficacy of treatments and the outcome of rare epilepsies. A fairly wide opening on the syndromes to be included will make it possible to collect data without being limited to those which are the subject of the most frequent publications and therefore provide data not available to date.

You may qualify if:

• Diagnosis for rare epilepsy (based on ORPHA codes)
• holders of parental authority not opposed
• Be followed in one of the declared centers of the study

You may not qualify if:

• opposition from the holders of parental authority or the patient

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Orphelia Pharma: collaborator

Study Sites (11)

CHU Angers

Angers, 49933, France

RECRUITING

CHU de Bordeaux

Bordeaux, 33076, France

RECRUITING

CHU de Brest - Hôpital de la Cavale Blanche

Brest, 29200, France

RECRUITING

CHRU Lille

Lille, 59000, France

RECRUITING

HFME - HospiceS Civils De Lyon

Lyon, 69000, France

RECRUITING

Hôpital La Timone - APHM

Marseille, 13005, France

RECRUITING

Hôpital Necker - APHP

Paris, 75015, France

RECRUITING

Hopital Robert Debré - Neurologie

Paris, 75019, France

RECRUITING

CHU Strasbourg- Hôpital de Hautepierre

Strasbourg, 67098, France

RECRUITING

Hôpital Purpan - CHU de Toulouse

Toulouse, 31000, France

RECRUITING

CHU de Tours - hôpital Clocheville

Tours, 37044, France

RECRUITING

MeSH Terms

Conditions

Epilepsy; Spasms, Infantile; Epilepsies, Myoclonic

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy, Generalized; Epileptic Syndromes

Study Officials

• Blandine DOZIERES, Dr

  Hopital Robert Debré - Assistance Publique Hopitaux de Paris

  STUDY DIRECTOR

Central Study Contacts

Blandine DOZIERES, Dr

CONTACT

0140033667; blandine.dozieres@aphp.fr

Study Design

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

Study Record Dates

• First Submitted: October 22, 2021
• First Posted: November 19, 2021
• Study Start: December 11, 2025
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: February 24, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (11)