Molecular Analysis of Microphthalmia/Anophthalmia

June 30, 2017 updated by: National Human Genome Research Institute (NHGRI)

Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders

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

Study Overview

Status

Completed

Conditions

Detailed Description

We propose to identify and analyze the underlying mechanistic pathway of X-linked microphthalmia/anophthalmia. This is a heterogeneous group that includes syndromic microphthalmia 1 (MCOPS1) OMIM #309800, and syndromic microphthalmia 2 (MCOPS2) OMIM #300166 and other, as yet to be defined, malformations of the globe. We have identified a causative gene for MCOPS1 (Ng, et al 2004). 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, genotype-phenotype correlation, and cell biologic studies of normal and mutant proteins.

Study Type

Observational

Enrollment

450

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

Inclusion criteria will consist of affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. In addition, we may analyze patients with mental retardation with or without eye defects to allow genotype phenotype correlation studies. 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 microphthalmia/anophthalmia syndromes will be analyzed to determine if these conditions are allelic. Sporadic cases of microphthalmia with or without mental retardation may be considered for study, along with parents and unaffected siblings. Unaffected subjects may also be enrolled if needed for controls.

Specimens from patients collected at outside institutions may be accepted into the study if they were collected under an IRB-approved protocol at a multiple project assurance (FWA) institution or if the IRB waives review of the study and allows usage of the NIH consent. Some of these patient samples may represent overlapping phenotypes (e.g., laterality defects) and not microphthalmia. Inheritance patterns may not be known for these.

EXCLUSION CRITERIA:

If the patient has microphthalmia/anophthalmia with autosomal recessive, autosomal dominant pattern of inheritance, the family will be excluded. While this criterion should enrich for X-linked syndromic microphthalmia, the rarity of the disorder necessitates that we will accept small families and even sporadic cases if they have substantial clinical overlap with Lenz or OFCD.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 22, 2001

Study Completion

February 4, 2009

Study Registration Dates

First Submitted

February 28, 2001

First Submitted That Met QC Criteria

February 28, 2001

First Posted (ESTIMATE)

March 1, 2001

Study Record Updates

Last Update Posted (ACTUAL)

July 2, 2017

Last Update Submitted That Met QC Criteria

June 30, 2017

Last Verified

February 4, 2009

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 010094
  • 01-HG-0094

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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