Molecular Analysis of Microphthalmia/Anophthalmia (NCT00011843) | Clinical Trial Compass
CompletedNot Applicable
Molecular Analysis of Microphthalmia/Anophthalmia
United States450 participantsStarted 2001-02-22
Plain-language summary
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
Who can participate
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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 …
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Trial details
NCT IDNCT00011843
SponsorNational Human Genome Research Institute (NHGRI)