Study of Selected X-Linked Disorders: Aicardi Syndrome

Conditions

• Aicardi Syndrome
• Brain Disorders

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• Syndrome cause identification — OTHER

Study Details

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.

Key Dates

Start date

Oct 31, 2002

Status verified

Apr 2026

Primary completion

Jan 31, 2030

Completion

Jan 31, 2030

Study Design

Enrollment

500 participants (estimated)

Arms

• Arm: Experimental
  Individuals with Aicardi syndrome and their first-degree relatives

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

• Ignatia Van den Veyver, PMD
  832-824-8125
  [email protected]
• Imen Chakchouk, PhD
  832-824-8156
  [email protected]

Locations (1)

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