SCN1A Gen Mutasyonu Olan Dravet Sendromu Hastalarında Fenotipik ve Gelişimsel Şiddetin Uzunlamasına Çalışması

Sade dilde özet

Bu çalışma, SCN1A geninde mutasyon bulunan Dravet sendromu (Dravet syndrome, ağır bir çocukluk çağı epilepsisi) hastalarında hastalığın fenotipik ve gelişimsel şiddetini zaman içinde uzunlamasına izlemektedir. Çalışmaya, SCN1A geninde patojenik veya olası patojenik varyant doğrulanmış, 6 ay ile 21 yaş arasındaki hastalar alınmaktadır. Çalışma faz uygulanmayan bir gözlem çalışması olup halen katılımcı almaktadır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

N/A

Durum

Katılımcı alıyor

Sponsor

Assistance Publique - Hôpitaux de Paris

Başlangıç

15.09.2025

Tahmini bitiş

01.10.2030

Ülkeler

France

İlgili genler

Merkezler

• Paris, France

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

* The patient or his/her legal representative must be able to give informed consent for participation in the study.
* The participant or legal representative are able (in the opinion of the investigator) to comply with the research protocol.
* Patient (male/female) between 6 months and 21 years of age inclusive at the time of consent.
* The patient has a confirmed pathogenic or probably pathogenic variant of the SCN1A gene demonstrated by a genetic test.
* The patient had normal development prior to the onset of the first seizure.
* The patient had an onset of epileptic seizures between the ages of 3 and 15 months inclusive.
* The patient is receiving at least one of the following anti-epileptic drugs prior to consent: brivaracetam, clobazam, cannabidiol, fenfluramine, levetiracetam, sodium valproate, stiripentol, topiramate

Exclusion Criteria:

* The patient has a copy number variation of the SCN1A gene affecting other genes, including a microdeletion of SCN1A.
* The patient has a mutation in the SCN1A gene on both alleles.
* The patient has a known or clinically suspected pathogenic mutation in a gene associated with epilepsy other than the SCN1A gene.
* The patient has a concomitant genetic mutation or clinical comorbidity deemed likely to disrupt the typical phenotype of Dravet syndrome.
* The patient has a known gain-of-function mutation, defined by functional studies, including p.Thr226Met.
* The patient has a history of neurodevelopmental abnormality prior to the onset of seizures, based on the medical record.
* The patient has been seizure free for a period of one year prior to informed consent.
* The patient has, at any time, taken antiepileptic drugs with a worsening effect for 6 consecutive weeks or more, including: carbamazepine, eslicarbazepine, lacosamide, lamotrigine, oxcarbazepine, phenytoin (chronic oral administration), tiagabine and vigabatrin.
* The patient has already received innovative therapies such as antisense ologonucleotides, gene therapy or cell therapy.
* The patient has a structural abnormality on brain imaging (MRI or CT scan) which the principal investigator considers to be an epileptogenic lesion.