Molecular Genetics in Infantile Spasms

Status Completed

Clinical Trial Summary

Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, the investigators performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.

Clinical Trial Description

n/a

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02885389
Study type	Observational
Source	Hospices Civils de Lyon
Contact
Status	Completed
Phase	N/A
Start date	October 2010
Completion date	July 2012

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See also
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Completed	`NCT01006811` - Use of the Modified Atkins Diet in Infantile Spasms	Phase 2/Phase 3
Completed	`NCT01828437` - Addition of Pyridoxine to Prednisolone in Infantile Spasms	Phase 3
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Completed	`NCT00552045` - Epilepsy Phenome/Genome Project
Completed	`NCT02220114` - Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy	N/A
Completed	`NCT02954887` - Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)	Phase 3
Completed	`NCT01723787` - Genetic Studies in Patients and Families With Infantile Spasms
Completed	`NCT02092883` - Evaluation of Neuroinflammation in Children With Infantile Spasms	Phase 4
Withdrawn	`NCT01413711` - An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms	Phase 4
Terminated	`NCT00442104` - Open-label Extension to Protocol 1042-0500	Phase 2
Completed	`NCT00441896` - A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms	Phase 2
Completed	`NCT01575639` - Prednisolone in Infantile Spasms- High Dose Versus Usual Dose	Phase 3
Withdrawn	`NCT01549288` - Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy	Phase 2/Phase 3
Not yet recruiting	`NCT06315829` - Artificial Intelligence-based Video Analysis to Detect Infantile Spasms
Completed	`NCT01073579` - Sabril Patient Registry	N/A
Completed	`NCT02953548` - Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)	Phase 3
Completed	`NCT00001325` - Metabolic Abnormalities in Children With Epilepsy	N/A
Completed	`NCT00968136` - Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study	N/A