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Trial record 4 of 4 for:    "Microphthalmos" OR "microphthalmia with linear skin defects syndrome"

Study of Selected X-Linked Disorders: Aicardi Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2016 by Baylor College of Medicine
Aicardi Syndrome Foundation
Information provided by (Responsible Party):
Ignatia Van den Veyver, Baylor College of Medicine Identifier:
First received: June 11, 2008
Last updated: December 15, 2016
Last verified: December 2016
Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. Our team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. We 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. Our current research includes microarray analysis which we are using to look for duplications or deletions of genetic material, mutation analysis of candidate genes by sequencing, review of medical records to identify trends suggesting possible candidate genes of interest, and X chromosome inactivation studies.

Aicardi Syndrome
Brain Disorders

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome

Resource links provided by NLM:

Further study details as provided by Baylor College of Medicine:

Biospecimen Retention:   Samples With DNA
lymphoblast DNA; tissue

Estimated Enrollment: 300
Study Start Date: October 2002
Estimated Study Completion Date: January 2020
Estimated Primary Completion Date: January 2020 (Final data collection date for primary outcome measure)
Individuals with Aicardi syndrome and their first-degree relatives

Detailed Description:

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. We 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, we 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 we 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 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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Girls with Aicardi syndrome and their unaffected parents. Sometimes additional family members are also enrolled.

Inclusion Criteria:

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

    • Agenesis of the corpus callosum
    • Chorioretinal lacunae
    • Seizures (infantile spasms)

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00697411

Contact: Bibiana KY Wong, PhD 832-824-8192
Contact: Ignatia B Van den Veyver, MD 832-824-8125

United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Ignatia B Van den Veyver, MD    832-824-8125   
Contact: Bibiana KY Wong, PhD    832-824-8192   
Principal Investigator: Ignatia B Van den Veyver, MD         
Sponsors and Collaborators
Baylor College of Medicine
Aicardi Syndrome Foundation
Principal Investigator: Ignatia B Van den Veyver, MD Baylor College of Medicine
  More Information

Wong BKY, Sutton VR, Lewis, RA & Van den Veyver, IB. Independent variant analysis of Tead1 and Ocel1 in 38 Aicardi Syndrome patients. Accepted for publication in Molecular Genetics & Genomic Medicine
Aicardi, J, Levebre, J, and Lerique-Koechlin, A (1965) A new syndrome: Spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19, 609-610.

Responsible Party: Ignatia Van den Veyver, Professor, Baylor College of Medicine Identifier: NCT00697411     History of Changes
Other Study ID Numbers: BCM Aicardi H12791
Study First Received: June 11, 2008
Last Updated: December 15, 2016
Individual Participant Data  
Plan to Share IPD: Yes
Plan Description: patient data with all identification removed will be published following peer review in journals and/or presented at scientific meetings.

Keywords provided by Baylor College of Medicine:
Aicardi syndrome
Microphthalmia with linear skin defects (MLS) syndrome
X-linked disorders

Additional relevant MeSH terms:
Brain Diseases
Aicardi Syndrome
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Agenesis of Corpus Callosum
Nervous System Malformations
Eye Diseases, Hereditary
Eye Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked processed this record on April 26, 2017