Molecular Genetics in Infantile Spasms

August 26, 2016 updated by: Hospices Civils de Lyon

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

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

41

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 months to 15 years (CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Infantile spams or West syndrome

Description

Inclusion Criteria:

  • Infantile spams or West syndrome

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
Day one

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2010

Primary Completion (ACTUAL)

July 1, 2012

Study Completion (ACTUAL)

July 1, 2012

Study Registration Dates

First Submitted

August 23, 2016

First Submitted That Met QC Criteria

August 26, 2016

First Posted (ESTIMATE)

August 31, 2016

Study Record Updates

Last Update Posted (ESTIMATE)

August 31, 2016

Last Update Submitted That Met QC Criteria

August 26, 2016

Last Verified

August 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2010.614

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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