Actively Recruiting
Study of Selected X-Linked Disorders: Aicardi Syndrome
Led by Baylor College of Medicine · Updated on 2026-05-05
500
Participants Needed
1
Research Sites
1422 weeks
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
A
Aicardi Syndrome Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Study of Selected X-Linked Disorders: Aicardi Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Features suggestive of Aicardi syndrome (not all features must be present)
- Agenesis of the corpus callosum
- Chorioretinal lacunae
- Seizures (infantile spasms)
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
I
Ignatia Van den Veyver, PMD
CONTACT
I
Imen Chakchouk, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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