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Home > "M" Clinical Trials Conditions > Molecular Analysis of Microphthalmia/Anophthalmia  Molecular Analysis of Microphthalmia/Anophthalmia
Molecular Analysis of Microphthalmia/Anophthalmia
For Condition: Anophthalmos
Status: Recruiting
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: 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: -Blood draw - for young children, a numbing cream is applied to the skin before the needlestick to decrease the pain -Skin biopsy - a small piece of skin (about 1/8-inch in diameter) is removed surgically after the area has been numbed with an anesthetic -Cotton swab - a specimen is collected from inside the cheek using a cotton swab. This is done only for patients who cannot provide a blood or skin sample. -Prenatal sample - If, in the case of newborns, specimens are left from prenatal testing, these can be used instead of a blood sample. Some patients may have a permanent cell line grown from the blood or skin sample for use in future research tests. Clinical For the clinical study, participants undergo some or all of the following procedures at the NIH Clinical Center: -Physical examination -Clinical photographs, X-rays, blood tests -Magnetic resonance imaging (MRI) scan of the brain - a diagnostic procedure that uses a magnetic field and radio waves instead of X-rays to produce images of the brain
Details: We are interested in identifying the underlying mechanistic pathway of microphthalmia/anophthalmia with mental retardation. This a heterogeneous group that includes Lenz dysplasia/microphthalmia with associated anomalies (MAA) OMIM #309700, and Clinical anophthalmos (ANOP1) OMIM #301590 and other as yet to be defined malformations of the globe. To date, the causative molecular defects leading to these conditions have not been identified. To further delineate these conditions, we will study families with these features through a combined clinical and molecular approach. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal and mutant proteins.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. Parents and siblings will be included for linkage analysis. Unaffected non-transmitting parents may be included to clarify haplotype status. In addition, families with X-linked microphthalmia/anophthalmia with associated anomalies such as Lenz dysplasia and other X-linked recessive microphthalmia/anopthalmia syndrome will be analyzed to determine if these conditions are allelic. In latter stages of the study, a limited number of sporadic cases of microphthalmia with or without mental retardation may be considered for the study, along with parents and unaffected siblings. Unaffected subjects may also be enrolled if needed for controls. EXCLUSION CRITERIA: If the patient has microphthalmia/anophthalmia with autosomal recessive or autosomal dominant pattern of inheritance, the family will be excluded.
Total Enrollment: 200
Location and Contact Information:
National Human Genome Research Institute (NHGRI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 010094; 01-HG-0094
Study Start Date: February 22, 2001
Record last reviewed: January 29, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00011843
Other Anophthalmos Studies:
1. Molecular Analysis of Microphthalmia/Anophthalmia
Related Studies:
Other Anophthalmos Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Molecular Analysis of Microphthalmia/Anophthalmia
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