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OpenTrials
Completed

NCT Number: NCT02885389

Molecular Genetics in Infantile Spasms

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.

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Key information

Conditions

Infantile Spasms Brain Diseases Central Nervous System Diseases Epilepsy Epilepsy, Generalized Epileptic Syndromes Nervous System Diseases Spasms, Infantile West Syndrome

Age range

3 month–15 year

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Infantile spams or West syndrome

Exclusion criteria

  • brain malformation
  • clinical features of tuberous sclerosis
  • abnormal metabolic assays

Treatment and study plan

Primary outcomes

  1. Presence of deleterious gene variants in candidate genes for infantile spasms/west syndrome and for deleterious Copy-Number variations (CNV). A pan-genome analysis by microarray

    Time frame: Day one

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome

Important dates

Study start
2010
Primary completion
2012
Study completion
2012
First posted
Aug 31, 2016
Registry last updated
Aug 31, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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