NCT02885389

Brief 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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
41

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Oct 2010

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2010

Completed
1.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2012

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2012

Completed
4.1 years until next milestone

First Submitted

Initial submission to the registry

August 23, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

August 31, 2016

Completed
Last Updated

August 31, 2016

Status Verified

August 1, 2016

Enrollment Period

1.8 years

First QC Date

August 23, 2016

Last Update Submit

August 26, 2016

Conditions

Infantile SpasmsWest Syndrome

Keywords

Infantile spasmsWest syndromevariantmutationCNVsequencing

Outcome Measures

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

    Day one

Eligibility Criteria

Age3 Months - 15 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

Infantile spams or West syndrome

You may qualify if:

  • Infantile spams or West syndrome

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Spasms, Infantile

Condition Hierarchy (Ancestors)

Epilepsy, GeneralizedEpilepsyBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesEpileptic Syndromes

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 23, 2016

First Posted

August 31, 2016

Study Start

October 1, 2010

Primary Completion

July 1, 2012

Study Completion

July 1, 2012

Last Updated

August 31, 2016

Record last verified: 2016-08