Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
|First Received Date ICMJE||February 15, 2003|
|Last Updated Date||April 21, 2017|
|Start Date ICMJE||February 12, 2003|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00055029 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis|
|Official Title ICMJE||X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies|
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:
Family members will provide a blood sample for genetic study.
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:
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.
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.
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.
The primary outcome is the categorization of the proband s genotype and phenotype and determination of the relationship between the two.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Family-Based
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||500|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
Eligible participants must satisfy one of the criteria below:
The participant (or the participant s legal guardian) understands and signs this protocol s informed consent document and minor participants between the ages of 7 and 17 must provide assent.
Affected males will be ineligible for participation if:
Both affected and unaffected individuals will be ineligible for participation if:
|Ages||9 Months and older (Child, Adult, Senior)|
|Accepts Healthy Volunteers||No|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00055029|
|Other Study ID Numbers ICMJE||030033
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Eye Institute (NEI)|
|Study Sponsor ICMJE||National Eye Institute (NEI)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||August 1, 2016|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP