Ignite Creation Date:
2024-07-17 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 3:34 PM
Study NCT ID:
NCT06491615
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2024-07-08
Brief Title:
National Ophthalmic Genotyping and Phenotyping Network eyeGENE Registered Trademark Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
National Ophthalmic Genotyping and Phenotyping Network Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Status:
RECRUITING
Status Verified Date:
2024-08-13
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
The eyeGENE Registered Trademark program is a research resource for inherited eye conditions which includes genotypic and phenotypic data imaging and a corresponding biobank of DNA samples from people with a variety of eye diseases Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases These findings helped them create better treatments Now researchers want to expand eyeGENE Registered Trademark to include more people for certain eye diseases
Objective To collect information and DNA samples for the study of eye diseases
Primary objective
--To expand the current eyeGENE Registered Trademark data repository with targeted participant accrual
Secondary objectives
To enhance recruitment for clinical trials and investigations in inherited eye diseases
To establish genotype-phenotype correlations for rare eye diseases
Eligibility
People of any age with certain eye diseases These can include aniridia Best disease blue-cone monochromacy corneal dystrophy and disorders of pigmentation such as albinism Relatives unaffected by the eye disease of interest may also be needed
Design
Researchers will select participants based on their diagnosis The data may include images and test results from eye exams
Participants will provide a sample of saliva They will receive a kit with written instructions They will spit in a tube and mail it to the NIH
Participants may be asked to provide a blood sample The blood may be drawn at the NIH or at a local clinic
The eyeGENE Registered Trademark repository will offer researchers data about the participants eye conditions The data may include pictures of their eyes results of the genetic testing and history of other diseases Researchers will be able to see data such as age and gender but they will not see names dates of birth or contact information
The eyeGENE Registered Trademark program is a research resource for inherited eye conditions which includes genotypic and phenotypic data imaging and a corresponding biobank of DNA samples from people with a variety of eye diseases Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases These findings helped them create better treatments Now researchers want to expand eyeGENE Registered Trademark to include more people for certain eye diseases
Objective To collect information and DNA samples for the study of eye diseases
Primary objective
--To expand the current eyeGENE Registered Trademark data repository with targeted participant accrual
Secondary objectives
To enhance recruitment for clinical trials and investigations in inherited eye diseases
To establish genotype-phenotype correlations for rare eye diseases
Eligibility
People of any age with certain eye diseases These can include aniridia Best disease blue-cone monochromacy corneal dystrophy and disorders of pigmentation such as albinism Relatives unaffected by the eye disease of interest may also be needed
Design
Researchers will select participants based on their diagnosis The data may include images and test results from eye exams
Participants will provide a sample of saliva They will receive a kit with written instructions They will spit in a tube and mail it to the NIH
Participants may be asked to provide a blood sample The blood may be drawn at the NIH or at a local clinic
The eyeGENE Registered Trademark repository will offer researchers data about the participants eye conditions The data may include pictures of their eyes results of the genetic testing and history of other diseases Researchers will be able to see data such as age and gender but they will not see names dates of birth or contact information
Detailed Description:
STUDY DESCRIPTION
Molecular genetics has revolutionized the diagnosis and treatment of inherited eye diseases Progress in research on inherited eye disease is augmented by the availability of patient DNA coupled to phenotypic information To expand the current eyeGENE Registered Trademark data repository participants will be accrued from targeted rare and ultra-rare disease populations
OBJECTIVES
Primary Objective
-To expand the current eyeGENE Registered Trademark data repository with targeted participant accrual
Secondary Objectives
To enhance recruitment for clinical trials and investigations in inherited eye diseases
To establish genotype-phenotype correlations for rare eye diseases
Molecular genetics has revolutionized the diagnosis and treatment of inherited eye diseases Progress in research on inherited eye disease is augmented by the availability of patient DNA coupled to phenotypic information To expand the current eyeGENE Registered Trademark data repository participants will be accrued from targeted rare and ultra-rare disease populations
OBJECTIVES
Primary Objective
-To expand the current eyeGENE Registered Trademark data repository with targeted participant accrual
Secondary Objectives
To enhance recruitment for clinical trials and investigations in inherited eye diseases
To establish genotype-phenotype correlations for rare eye diseases
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 |
|---|---|---|---|
| 001647-EI | None | None | None |