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Study of Selected X-Linked Disorders: Aicardi Syndrome

Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome

Who can join

All ages · All sexes

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

About the study

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.

What is being tested

• Syndrome cause identification (other)

Sponsor: Baylor College of Medicine · Participants: 500 · Started: 2002-10

Contact the study team

• Ignatia Van den Veyver, PMD · Phone: 832-824-8125
• Imen Chakchouk, PhD · Phone: 832-824-8156

Official record on ClinicalTrials.gov — NCT00697411

Locations in the U.S.

Conditions

• Brain Diseases

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.