Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Features suggestive of Aicardi syndrome (not all features must be present)

‣ Agenesis of the corpus callosum

⁃ Chorioretinal lacunae

⁃ Seizures (infantile spasms)

Locations
United States
Texas
Baylor College of Medicine
RECRUITING
Houston
Contact Information
Primary
Ignatia Van den Veyver, PMD
iveyver@bcm.edu
832-824-8125
Backup
Imen Chakchouk, PhD
imen.chakchouk@bcm.edu
832-824-8156
Time Frame
Start Date: 2002-10
Estimated Completion Date: 2030-01
Participants
Target number of participants: 500
Treatments
Experimental
Individuals with Aicardi syndrome and their first-degree relatives
Related Therapeutic Areas
Sponsors
Leads: Baylor College of Medicine
Collaborators: Aicardi Syndrome Foundation

This content was sourced from clinicaltrials.gov

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