Ignite Creation Date:
2024-05-06 @ 8:35 AM
Last Modification Date:
2024-10-26 @ 12:02 PM
Study NCT ID:
NCT02771236
Status:
RECRUITING
Last Update Posted:
2024-07-09
First Post:
2016-05-12
Brief Title:
Clinical and Molecular Studies in Families With Inherited Eye Disease
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Studies in Families With Inherited Eye Disease
Status:
RECRUITING
Status Verified Date:
2024-07-03
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:
Background
Genes are the basic units of heredity When genes are changed certain cells don t work like they should Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases
Objective
To try to identify the genes linked to the development of inherited eye diseases
Eligibility
People ages 4 and older who have or have a family member with an inherited eye disease
Design
Participants will be screened with medical history and medical records
Participants will have one visit that will take 3-4 hours This will include
Medical and family history
Eye exam This includes the pupil being dilated
Electroretinography A small electrode is taped to the forehead Participants sit in the
dark with their eyes patched for 30 minutes Then numbing drops and contact lenses are put in
the eyes They will watch flashing lights
Blood tests
Saliva sample They will spit into a container or have the inside of their cheek swabbed
Genetic testing will be done on participants blood or saliva
Participants may meet with the researchers to discuss their genetic tests
Genes are the basic units of heredity When genes are changed certain cells don t work like they should Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases
Objective
To try to identify the genes linked to the development of inherited eye diseases
Eligibility
People ages 4 and older who have or have a family member with an inherited eye disease
Design
Participants will be screened with medical history and medical records
Participants will have one visit that will take 3-4 hours This will include
Medical and family history
Eye exam This includes the pupil being dilated
Electroretinography A small electrode is taped to the forehead Participants sit in the
dark with their eyes patched for 30 minutes Then numbing drops and contact lenses are put in
the eyes They will watch flashing lights
Blood tests
Saliva sample They will spit into a container or have the inside of their cheek swabbed
Genetic testing will be done on participants blood or saliva
Participants may meet with the researchers to discuss their genetic tests
Detailed Description:
Objective This project Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases both Mendelian and complex age related inherited eye diseases in families of many nationalities and ethnic backgrounds in order to identify the genes that when mutated cause inherited eye diseases and the pathophysiology through which they act Among the diseases studied will be cataracts corneal dystrophies and other corneal diseases retinal degenerations myopia and other anterior chamber defects and glaucoma
Study Population Families and individuals of many nationalities and ethnic backgrounds We will study a maximum of 5000 participants and family members
Design The study consists of ascertaining individuals and especially families with multiple individuals affected by both congenital and age related inherited eye diseases These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA Linkage analysis association analysis physical mapping and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis If necessary the gene product will be characterized biochemically Blood samples may also be used to complete analyses such as hemoglobin A1c HbA1c fasting blood glucose and glucose tolerance tests The study will enroll participants at NEI and collaborating institutions
Outcome Measures Linkage will be determined using the lod score method association will be determined using standard statistical procedures to estimate p values and mutations in specific genes will be assessed using a combination of residue conservation blosum score bioinformatic prediction of structural damage to the protein and molecular modeling Assessment of biochemical metabolic and physiological effects of these mutations will be individualized to the specific case
Study Population Families and individuals of many nationalities and ethnic backgrounds We will study a maximum of 5000 participants and family members
Design The study consists of ascertaining individuals and especially families with multiple individuals affected by both congenital and age related inherited eye diseases These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA Linkage analysis association analysis physical mapping and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis If necessary the gene product will be characterized biochemically Blood samples may also be used to complete analyses such as hemoglobin A1c HbA1c fasting blood glucose and glucose tolerance tests The study will enroll participants at NEI and collaborating institutions
Outcome Measures Linkage will be determined using the lod score method association will be determined using standard statistical procedures to estimate p values and mutations in specific genes will be assessed using a combination of residue conservation blosum score bioinformatic prediction of structural damage to the protein and molecular modeling Assessment of biochemical metabolic and physiological effects of these mutations will be individualized to the specific case
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
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 |
|---|---|---|---|
| 16-EI-0104 | None | None | None |