An observational study in Aicardi Syndrome and Brain Disorders, sponsored by Baylor College of Medicine. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-05-05.
Sponsored by Baylor College of Medicine · Observational
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.
Aicardi syndrome is a sporadic X-linked dominant, presumably male-lethal, neurodevelopmental disorder. It was initially characterized by agenesis of the corpus callosum, neuronal migration defects, eye abnormalities (chorioretinal lacunae, colobomas of the optic nerve and microphthalmia) and severe early-onset seizures and neurodevelopmental delay. It is now well recognized that other brain abnormalities, such as polymicrogyria, agyria, cysts and heterotopias are common features of Aicardi syndrome. The investigators previously hypothesized that the gene causing Aicardi syndrome and possibly additional phenotypically similar disorders with X-linked inheritance, such as Goltz syndrome or Focal Dermal Hypoplasia, are in or near the region on chromosome Xp22 that is deleted in another condition named microphthalmia with linear skin defects syndrome (MLS), because all three have some clinical similarities. However, interim studies have shown that this is likely not the case because no mutations were found in Aicardi syndrome in human holocytochrome c-type synthetase (HCCS) , the gene that is deleted or mutated in MLS. In addition, a mouse model for MLS has no features of Aicardi syndrome. Furthermore, the ivnestigators identified mutations in PORCN (Xp11.3) in Goltz syndrome patients, but not in Aicardi syndrome patients. Therefore, it is likely that the mutated gene is elsewhere on the X-chromosome.
For this study the investigators are collecting information on patients with clinical findings suggesting a diagnosis of Aicardi syndrome, MLS syndrome or a condition that phenotypically overlaps with these disorders. A detailed family history will be obtained, when indicated, and additional family members will be evaluated after appropriately obtained written voluntary consent. A detailed report of the history or physical findings will be obtained from referring physicians for patients identified at outside facilities, or the participants may be evaluated by the study collaborators. Blood and skin biopsy will be obtained from affected individuals, unaffected parents and from other affected or unaffected family members where indicated. It is anticipated that some severely affected patients will expire; in that case, (post mortem) pathological specimens may be obtained. Occasionally, affected individuals may undergo surgical procedures with removal of tissues; in this case we may obtain tissues that would be otherwise discarded or that are not essential for further diagnostic studies or clinical care of the patient. It is anticipated that these specimens will be extremely valuable for understanding the pathogenesis of the investigated conditions. DNA, RNA or protein will be prepared from leukocytes and from tissues and used for sequencing and mutation analysis and other molecular studies of the identified genes. Permanent lymphoblastoid cell lines will be prepared and stored in the laboratory as a permanent source of DNA for the molecular studies. Cell lines may be made from skin biopsies
502 studies on the registry are indexed under Brain Diseases; 141 are open to participants now.
This study's planned enrollment of 500 is above the median of 149 across 144 observational studies indexed under Brain Diseases.
Browse Brain Diseases studies →Baylor College of Medicine is the lead sponsor of 747 studies on the registry; 110 are open to participants now.
Of its 84 completed or terminated interventional studies of FDA-regulated products, 45 (54%) have results posted.
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Girls with Aicardi syndrome and their unaffected parents. Sometimes additional family members are also enrolled.
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Features suggestive of Aicardi syndrome (not all features must be present)
Exclusion Criteria:
Individuals with Aicardi syndrome and their first-degree relatives
Other: Syndrome cause identification
Identifying the change in the genetic information that causes Aicardi syndrome
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 healthy people (whose DNA sequence is in public databases), the outcome (finding the genetic cause of Aicardi syndrome) will be achieved. Aicardi syndrome is very rare, thus recruitment and enrollment of new individuals will continue when they are referred to the study. In this research a key finding in one individual can provide the clue for the entire cohort. It cannot be predicted when this will happen, thus enrollment and data collection will continue as long as the study is ongoing.
Time frame: Through study completion, an average of 20 years
Plan to share: Yes — Patient data with all identification removed will be published following peer review in journals and/or presented at scientific meetings.
Time frame: At the end of the study.
Access criteria: Patient data with all identification removed will be published following peer review in journals and/or presented at scientific meetings. Reasonable requests from other researchers working on the same disease will be reviewed by the PI and sharing will be done after full deidentification and with institutionally approved of data and material transfer agreements.
Started Oct 2002 (actual). Primary completion is estimated for Jan 2030, 327 months after the start.
Of 78 non-industry observational studies under Brain Diseases, half reached primary completion within 62 months of starting (the median), counting those still running; a quarter within 23 and three quarters within 193. This study's planned 327 months is above that.
Counting every sponsor, half of 87 studies reached it within 62 months; a quarter within 22 and three quarters within 193.
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