Ignite Creation Date:
2024-05-05 @ 11:29 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00055029
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-06-28
First Post:
2003-02-15
Brief Title:
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-06-14
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 explore the causes and eye problems of X-linked juvenile retinoschisis XLRS an inherited disease that causes vision loss primarily in young males The vision loss which worsens over time is a result of schisis or splitting of the layers of the retina tissue that lines the back of the eye A better understanding of why and how XLRS develops might lead to improved treatments
Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease such as the mother of the patient may be eligible for this study Other family members of patients also may be enrolled
Patients will undergo the following tests and procedures
Personal and family medical history to review past and current medical conditions and treatments particularly regarding eye disease and to construct a family tree
Eye examination to assess visual acuity eye chart test and examine pupils lens retina and eye movements The pupils will be dilated with drops for this examination
Photography of the retina to help evaluate the status of the retina
Specialized eye tests to evaluate color vision field of vision and ability to see in the dark
Electroretinogram ERG to examine what happens to the eyes after a flash of bright light For this test the patient sits in a dark room for 30 minutes with his or her eyes patched Then a small silver disk electrode is taped to the forehead the eye patches are removed the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes The patient looks inside a large empty bowl and then a light flashes first in the dark and then with a light turned on inside the bowl The contact lenses sense small electrical signals generated by the retina when the light flashes
Blood test to examine DNA for genetic study of XLRS
Family members will provide a blood sample for genetic study
Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease such as the mother of the patient may be eligible for this study Other family members of patients also may be enrolled
Patients will undergo the following tests and procedures
Personal and family medical history to review past and current medical conditions and treatments particularly regarding eye disease and to construct a family tree
Eye examination to assess visual acuity eye chart test and examine pupils lens retina and eye movements The pupils will be dilated with drops for this examination
Photography of the retina to help evaluate the status of the retina
Specialized eye tests to evaluate color vision field of vision and ability to see in the dark
Electroretinogram ERG to examine what happens to the eyes after a flash of bright light For this test the patient sits in a dark room for 30 minutes with his or her eyes patched Then a small silver disk electrode is taped to the forehead the eye patches are removed the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes The patient looks inside a large empty bowl and then a light flashes first in the dark and then with a light turned on inside the bowl The contact lenses sense small electrical signals generated by the retina when the light flashes
Blood test to examine DNA for genetic study of XLRS
Family members will provide a blood sample for genetic study
Detailed Description:
Objectives
The overall goal of this protocol is to better understand the etiology of XLRS disease to facilitate further research to identify a potential treatment for the disease The specific primary objectives of this study are to
1 Investigate the relationship between genotype and phenotype in X-Linked Retinoschisis by correlating four phenotype severity classes with two classes of genotypes This is the first step in developing a comprehensive genotypephenotype
correlation
2 Characterize the anatomical and functional characteristics of retinoschisis to refine the phenotype scale and investigate and characterize specific XLRS1 mutations to generate a well-documented genotype-phenotype correlation map
With the opportunity to study the genotypes and phenotypes of many affected males and the genotype of family members a secondary objective of this study will be to develop a detailed pedigree for affected families This information may be used to develop preliminary risk estimates for potential carrier females
Study Population
Up to 500 participants may enroll in this study A minimum of 150 of participants are expected to be males diagnosed with X-Linked Retinoschisis Participants may be recruited from the NIH and also from participating off-site locations The quality of the genetic observation is directly proportional to the number of affected individuals and genetically-different families enrolled
Design
This natural history multi-center registry study to enroll males diagnosed with X-Linked Retinoschisis and the family members of affected individuals Onsite affected males will undergo clinical examination and have their blood drawn for genotyping Onsite unaffected participants will undergo eye examinations Blood may also be drawn from the onsite unaffected participants but this is not required Sites outside of NIH are participating as referral centers to accumulate the cohort Offsite affected male participants will forward a blood sample and records from previous eye examinations to the NEI for review and analysis Offsite unaffected participants will forward records from previous eye examinations and may provide a blood sample although this is not required
Outcome Measures
The primary outcome is the categorization of the proband s genotype and phenotype and determination of the relationship between the two
The overall goal of this protocol is to better understand the etiology of XLRS disease to facilitate further research to identify a potential treatment for the disease The specific primary objectives of this study are to
1 Investigate the relationship between genotype and phenotype in X-Linked Retinoschisis by correlating four phenotype severity classes with two classes of genotypes This is the first step in developing a comprehensive genotypephenotype
correlation
2 Characterize the anatomical and functional characteristics of retinoschisis to refine the phenotype scale and investigate and characterize specific XLRS1 mutations to generate a well-documented genotype-phenotype correlation map
With the opportunity to study the genotypes and phenotypes of many affected males and the genotype of family members a secondary objective of this study will be to develop a detailed pedigree for affected families This information may be used to develop preliminary risk estimates for potential carrier females
Study Population
Up to 500 participants may enroll in this study A minimum of 150 of participants are expected to be males diagnosed with X-Linked Retinoschisis Participants may be recruited from the NIH and also from participating off-site locations The quality of the genetic observation is directly proportional to the number of affected individuals and genetically-different families enrolled
Design
This natural history multi-center registry study to enroll males diagnosed with X-Linked Retinoschisis and the family members of affected individuals Onsite affected males will undergo clinical examination and have their blood drawn for genotyping Onsite unaffected participants will undergo eye examinations Blood may also be drawn from the onsite unaffected participants but this is not required Sites outside of NIH are participating as referral centers to accumulate the cohort Offsite affected male participants will forward a blood sample and records from previous eye examinations to the NEI for review and analysis Offsite unaffected participants will forward records from previous eye examinations and may provide a blood sample although this is not required
Outcome Measures
The primary outcome is the categorization of the proband s genotype and phenotype and determination of the relationship between the two
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 |
|---|---|---|---|
| 03-EI-0033 | None | None | None |