Active — Not RecruitingNot Applicable

Gyrate Atrophy Ocular and Systemic Study

United States, Brazil46 participantsStarted 2023-11-21

Plain-language 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 standard care dietary treatment regimens over 4 years. The research goal is to understand the impact of OAT mutations on plasma ornithine levels and retinal degeneration. Funding Source- FDA OOPD

Who can participate

Age range12 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 m…

What they're measuring

Structural Outcome: Characterize Change using Quantitative Measures of Progression of the Area of Preserved Retina

Timeframe: Baseline and every year until study completion (4 years)

Structural Outcome: Characterize Change using Quantitative Measures of Progression of the Area of Preserved Retina (Use with FAF for assessments)

Timeframe: Baseline and every year until study completion (4 years)

Metabolic Outcome: Characterize Change in Plasma Ornithine Level

Timeframe: Baseline and every year until study completion (4 years)

Metabolic Outcome: Characterize Change in Blood Spot Ornithine Level

Timeframe: Baseline and every 4 months until study completion (4 years)

Trial details

NCT IDNCT05312736

SponsorJaeb Center for Health Research

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-12-31

View on ClinicalTrials.gov More Gyrate Atrophy trials