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Study of Selected X-Linked Disorders: Aicardi Syndrome

NCT00697411 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-05-05

No results posted yet for this study

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

Interventions

OTHER

Syndrome cause identification

Sponsors & Collaborators

  • Aicardi Syndrome Foundation

    collaborator OTHER

  • Baylor College of Medicine

    lead OTHER

Principal Investigators

  • Ignatia B Van den Veyver, MD · Baylor College of Medicine

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2002-10-31
Primary Completion
2030-01-31
Completion
2030-01-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00697411 on ClinicalTrials.gov