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NCT06371794: EXEDRA
EXploring novEl Molecular Determinants of DRAvet Syndrome Phenotype Heterogeneity
NA trial testing skin punch biopsy in Dravet Syndrome in 16 participants. Enrolling by invitation.
30 April 2025
Quick facts
| Lead sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS |
|---|---|
| Phase | NA |
| Status | ENROLLING BY INVITATION |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | basic science |
| Enrollment | 16 |
| Start date | 6 July 2023 |
| Primary completion | 30 April 2025 |
| Estimated completion | 31 May 2026 |
| Sites | 1 location across Italy |
Drugs / interventions tested
- skin punch biopsy
Conditions studied
- Dravet Syndrome — all drugs for Dravet Syndrome →
Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Who can join
Adults 18 to 35, any sex, with Dravet Syndrome. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Dravet syndrome is characterized as a developmental encephalopathy resulting from mutations of SCN1A, the gene encoding the alpha subunit of the voltage-gated sodium channel Nav1.1. The syndrome typically presents with drug-resistant epilepsy and varying degrees of cognitive disorders. Current treatment efficacy may be hindered by insufficient knowledge of undiscovered molecular determinants of the disease and its heterogeneous nature. Utilizing induced pluripotent stem cells (iPSCs) derived from skin biopsies, accessibility to patients' brain neurons has enabled successful modeling of various genetic neurological diseases. Neurons and brain organoids will be obtained from Dravet syndrome patients exhibiting diverse phenotypic severities, encompassing behavioral and developmental delays, to discern the molecular determinants of phenotypic diversity. Specifically, emphasis will be placed on investigating cellular and molecular mechanisms linking altered neuronal excitability with synaptic dysfunction.The study will focus on exploring the expression of newly identified modifiers potentially associated with neuronal excitability and synaptic function in iPSC-derived human neurons. This aims to establish correlations between the severity of epileptic and cognitive phenotypes and the altered expression of these proteins, whose functions are not fully understood.In the mid to long term, efforts will be directed towards overcoming the limitations of conventional therapeutic approaches for Dravet syndrome. This will involve attempting to reverse the observed morphological and functional alterations in Dravet syndrome neurons using viral vectors to promote overexpression/downregulation of identified modifiers correlated with disease severity. The anticipated outcomes of this project are expected to unveil novel molecular mechanisms underlying the pathophysiology of this severe neurogenetic disease, characterized by varying degrees of cognitive impairment. Moreover, these findings may pave the way for the discovery of innovative therapeutic strategies.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06371794
- Europe PMC full search
- ASCO Meeting Library
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- bioRxiv preprints
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Related trials
Other recruiting trials for Dravet Syndrome
Currently open trials in the same condition.
- NCT07251673 — Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation · recruiting
- NCT06401538 — BMB-101 in Absence Epilepsy and DEE · Phase 2 · recruiting
- NCT06660394 — A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS) · Phase 3 · recruiting
- NCT06118255 — A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less · Phase 3 · active not recruiting
- NCT06504511 — SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom · recruiting
Other Fondazione Policlinico Universitario Agostino Gemelli IRCCS trials
Trials by the same sponsor.
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06371794 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Last refreshed: 17 April 2024
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