NCT00011843|Completed
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Sponsor study identifier
Secondary identifiers
observational
450
1 country
1
Study Start
February 22, 2001
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
Not reported
Date not reportedStudy Completion
February 4, 2009
Date type not reportedThis date has not been verified as actual or estimated.
This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes). Patients with microphthalmia or anophthalmia with mental retardation may be eligible for this study. Patients' parents and siblings will also be included for genetic studies. Patients may participate in both the clinical and laboratory parts of the study or just the laboratory part, as described below: Laboratory The laboratory study consists of DNA analysis to determine the genetic cause of microphthalmia/anophthalmia. The DNA sample is obtained using one of the following methods:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
February 4, 2009
Date type not reportedThis date has not been verified as actual or estimated.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
February 22, 2001
Date type not reportedThis date has not been verified as actual or estimated.
February 28, 2001
Actual (reported)March 1, 2001
Actual (reported)February 4, 2009
Date type not reportedThis date has not been verified as actual or estimated.
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892, United States
Sensi A, Incorvaia C, Sebastiani A, Calzolari E. Clinical anophthalmos in a family. Clin Genet. 1987 Sep;32(3):156-9. doi: 10.1111/j.1399-0004.1987.tb03346.x.
Seemanova E, Lesny I. X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. Am J Med Genet. 1996 Dec 11;66(2):179-83. doi: 10.1002/(SICI)1096-8628(19961211)66:23.0.CO;2-Q.
First Submitted
February 28, 2001
First Posted
March 1, 2001
Study Start
February 22, 2001
Date type not reportedThis date has not been verified as actual or estimated.
Study Completion
February 4, 2009
Date type not reportedThis date has not been verified as actual or estimated.
Contact the study team to confirm eligibility.
Brunquell PJ, Papale JH, Horton JC, Williams RS, Zgrabik MJ, Albert DM, Hedley-Whyte ET. Sex-linked hereditary bilateral anophthalmos. Pathologic and radiologic correlation. Arch Ophthalmol. 1984 Jan;102(1):108-13. doi: 10.1001/archopht.1984.01040030092044.
Last Updated
July 2, 2017
Record last verified: 2009-02-04
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