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NCT00697411 · ClinicalTrials.gov registry record
Study of Selected X-Linked Disorders: Aicardi Syndrome
A clinical trial of Aicardi Syndrome and Brain Disorders, sponsored by Baylor College of Medicine.
- Recruiting
- Registry status
- 500
- Enrollment target
- 1
- Study location
NCT00697411: Recruiting study of Aicardi Syndrome and Brain Disorders, sponsored by Baylor College of Medicine.
NCT00697411 is a study of Aicardi Syndrome and Brain Disorders that is actively recruiting participants, run by Baylor College of Medicine. The registered enrollment target is 500 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00697411, a study of Aicardi Syndrome and Brain Disorders, is actively recruiting participants, sponsored by Baylor College of Medicine.
- RECRUITING
- Registry status
- 500 participants
- Enrollment target
- 1
- Study location
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.
Primary Outcome
The investigators will isolate genetic material from samples of individuals with Aicardi syndrome and their parents (if available). DNA sequencing and other molecular methods along with bioinformatic analysis will be used to find genetic variants (changes) in the genetic code unique to individuals with Aicardi syndrome, not seen in healthy population. When a gene that shows variants that are deleterious to its function is identified in at least 3 unrelated Aicardi syndrome individuals but not in
Conditions Studied
Interventions
- OTHER Syndrome cause identification
Study Locations (1)
Texas
- Baylor College of Medicine - Houston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 500 participants |
| Start Date | 2002-10 |
| Est. Completion | 2030-01 |
What NCT00697411 shows while recruiting
NCT00697411 is an observational study that tracks outcomes without assigning an intervention. The registered 500 participants enrollment target is mid-sized for trials with a published cap.
The record links to 2 conditions, with Aicardi Syndrome appearing as the primary indexed condition, and to 1 intervention - of which Syndrome cause identification is the first listed.
NCT00697411 reports a single indexed study location in Texas.
Frequently Asked Questions
What is clinical trial NCT00697411 about?
NCT00697411 is a clinical study titled "Study of Selected X-Linked Disorders: Aicardi Syndrome". 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 ...
What is the current status of trial NCT00697411?
This trial is currently recruiting. The enrollment target is 500 participants. The study started on 2002-10. Estimated completion is 2030-01.
What conditions does trial NCT00697411 study?
This clinical trial studies the following conditions: Aicardi Syndrome, Brain Disorders.
What interventions are being tested in trial NCT00697411?
The interventions under investigation include: Syndrome cause identification (OTHER).
Who is sponsoring clinical trial NCT00697411?
This trial is sponsored by Baylor College of Medicine, which has 616 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00697411 being conducted?
This trial has 1 study location across Texas. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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