Molecular Genetics in Infantile Spasms

Infantile Spasms Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02885389
• Other study ID #: 2010.614
• Status: Completed
• Phase: N/A
• First received: August 23, 2016
• Last updated: August 26, 2016
• Start date: October 2010
• Est. completion date: July 2012

Study information

• Verified date: August 2016
• Source: Hospices Civils de Lyon
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santéFrance: Commission nationale de l'informatique et des libertés
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 41
• Est. completion date: July 2012
• Est. primary completion date: July 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 3 Months to 15 Years

Eligibility

Inclusion Criteria:

• Infantile spams or West syndrome

Exclusion Criteria:

• brain malformation

• clinical features of tuberous sclerosis

• abnormal metabolic assays

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Infantile Spasms
• Muscle Cramp
• Spasm
• Spasms, Infantile
• Syndrome
• West Syndrome

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No