Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00011843
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2001-02-28
Brief Title:
Molecular Analysis of MicrophthalmiaAnophthalmia
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Molecular Analysis of MicrophthalmiaAnophthalmia and Related Disorders
Status:
COMPLETED
Status Verified Date:
2009-02-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 microphthalmiaanophthalmia 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 18-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
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 microphthalmiaanophthalmia 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 18-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
Detailed Description:
We propose to identify and analyze the underlying mechanistic pathway of X-linked microphthalmiaanophthalmia 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 01-HG-0094 | None | None | None |