Status:
ACTIVE_NOT_RECRUITING
Gyrate Atrophy Ocular and Systemic Study
Lead Sponsor:
Jaeb Center for Health Research
Collaborating Sponsors:
Conquering Gyrate Atrophy Foundation
Foundation Fighting Blindness
Conditions:
Gyrate Atrophy
Gyrata of Choroid and Retina; Atrophy
Eligibility:
All Genders
12+ years
Brief Summary
The Gyrate Atrophy Ocular and Systemic Study characterizes the natural history of ornithine levels and retinal degeneration (RD) associated with disease-causing OAT variants in the presence of standar...
Detailed Description
Gyrate atrophy is a rare inherited chorioretinal degeneration that is associated with hyperornithinemia, an inborn error of metabolism caused by autosomal recessive mutations in the ornithine aminotra...
Eligibility Criteria
Inclusion
- Participants must meet all the following inclusion criteria at the Screening Visit in order to be eligible to enroll into the genetic screening phase.
- Willing to participate in the study and able to communicate consent during the consent process.
- Willing and able to complete all study visit assessments at each visit over the forty-eight (48) month study period. Age ≥ 12 years.
- Must meet one (1) of the Genetic Screening Criteria below:
- At least 2 disease-causing variants in the OAT gene which are homozygous or heterozygous in trans, based on a report from a clinically certified lab, or a report from a research lab that has been pre-approved by the study Genetics Committee.
- At least 2 disease-causing variants in the OAT gene with unknown phase, based on a report from a clinically certified lab, or a report from a research lab that has been pre-approved by the study Genetics Committee, AND must meet both of the following phenotype criteria: .Classic fundus appearance of gyrate atrophy (based on investigator discretion) AND Elevated ornithine levels \>300 μmol/L (documented on any prior lab report).
- Note: if a participant has a variant(s) of unknown significance, they will still qualify if they meet the Genetic Screening Criteria above. Ocular Inclusion Criteria Participant must meet the following criteria at the Screening Visit to enroll into the genetic screening phase.
- Both eyes must have a clinical diagnosis of retinal dystrophy. Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation).
Exclusion
- Participants must not meet any of the following exclusion criteria at the Screening Visit in order to be eligible to enroll into the genetic screening phase.
- Single pathogenic or likely pathogenic genetic variants known to be associated with autosomal dominant retinitis pigmentosa/retinal dystrophy (AD, heterozygous), X-374 linked retinitis pigmentosa/retinal dystrophy (XL, hemizygous), or mitochondrial inheritance.
- Expected to enter experimental treatment trial at any time during this study. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy, including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine. Note: Since this is a Natural History Study collecting data on the progression of Gyrate Atrophy, pregnant women will not be specifically excluded from participation.
- Ocular
Key Trial Info
Start Date :
November 21 2023
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2028
Estimated Enrollment :
46 Patients enrolled
Trial Details
Trial ID
NCT05312736
Start Date
November 21 2023
End Date
December 31 2028
Last Update
September 9 2025
Active Locations (11)
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1
University of California San Francisco
San Francisco, California, United States, 94158
2
Johns Hopkins University, Wilmer Eye Institute
Baltimore, Maryland, United States, 21287
3
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114
4
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104