Molecular Analysis of Microphthalmia/Anophthalmia
Completed
Conditions studied: Anophthalmos
In brief
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
Key facts
- Study ID
- NCT00011843
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 450
- Starts
- 2001-02-22
- Expected to finish
- 2009-02-04
- Last updated by the study team
- 2017-07-02
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- 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.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.