Recruiting

Genetic Testing

Sponsor:

Baylor College of Medicine

Code:

NCT00697411

Conditions

Aicardi Syndrome

Brain Disorders

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Syndrome cause identification

Study Details

Brief summary:

Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. The research team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. The investigators are collecting blood and skin biopsy samples from patients and their parents. A permanent cell line is prepared and DNA from the blood and skin samples and cell lines is isolated and then used for genetic testing. The current research includes microarray analysis which which is used to look for duplications or deletions of genetic material, mutation analysis of candidate genes by sequencing, genome-wide sequencing, review of medical records to identify trends suggesting possible candidate genes of interest, and X chromosome inactivation studies.

Conditions

Aicardi Syndrome

Brain Disorders

Study ID

NCT00697411

Start date

Oct, 2002

Status verified date

Apr, 2026

Completion date

Jan, 2030

Anticipated

Primary completion date

Jan, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Features suggestive of Aicardi syndrome (not all features must be present)

  • Agenesis of the corpus callosum
  • Chorioretinal lacunae
  • Seizures (infantile spasms)

Exclusion Criteria:

  • none

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Experimental

Individuals with Aicardi syndrome and their first-degree relatives

Interventions

Syndrome cause identification

Primary outcome measure

  • Identifying the change in the genetic information that causes Aicardi syndrome [ Time Frame: Through study completion, an average of 20 years ]

Central Contacts and Locations

Central contacts

Ignatia Van den Veyver, PMD

832-824-8125iveyver@bcm.edu

Imen Chakchouk, PhD

832-824-8156imen.chakchouk@bcm.edu

Locations

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Ignatia B Van den Veyver, MD

832-824-8125iveyver@bcm.edu

Principal Investigator:

Ignatia B Van den Veyver, MD

More Information

Sponsor

Baylor College of Medicine

Last update posted

May 5, 2026

Last verified

Apr, 2026

Keywords

  • Aicardi syndrome
  • Neurodevelopmental disorders
  • X-linked disorders

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2026-05-05.