Condition: Aicardi Syndrome · Brain Disorders · Sponsor: Baylor College of Medicine
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.
This description comes directly from the study's public registry record.
Ignatia Van den Veyver, PMD · 832-824-8125 · iveyver@bcm.edu
Imen Chakchouk, PhD · 832-824-8156 · imen.chakchouk@bcm.edu
Always discuss trial participation with your own doctor first.
| Baylor College of Medicine | Houston, Texas, United States | Recruiting |
Get one email when the public record changes — results posted, or the study's status changes. Nothing else, ever.
We email about this public record only. Unsubscribe anytime with one click. Never medical advice.
This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.
Source record: clinicaltrials.gov/study/NCT00697411