조기 발병 망막 이영양증(EORD)에 대한 새로운 진단 방식으로서의 SS-HH-OCT (SS-HH-OCT)
조기 발병 망막 이영양증(EORD)에 대한 새로운 진단 방식인 초소형 휴대용 스위프 소스 광 간섭 단층 촬영(SS-HH-OCT)
The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in children with early-onset inherited retinal dystrophies (EORDs). Participants will have research imaging with SS-HH-OCT at the time of clinically-indicated eye examinations or procedures. The investigators aim to establish the basis for utilization of OCT imaging in earlier diagnosis and disease monitoring in children with EORDs. This work will set data reference standards and IRD endpoints that can be used in clinical trials.
연구 개요
상태
상태
정황
정황
개입 / 치료
개입 / 치료
상세 설명
What photoreceptor degenerative changes take place in children with early-onset inherited retinal dystrophies, and how is photoreceptor development in this patient population affected by genetic defects?
Our novel investigational SS-HH-OCT system features high scanning speed, long laser wavelength, and an ergonomic light-weight handheld design. The investigators hypothesize that imaging with this system will enable us to characterize early-onset retinal dystrophies (EORD)-associated PDCs in young children. To this end, the investigators propose the following specific aims:
Specific Aim 1: Optimize and demonstrate reproducibility of SS-HH-OCT imaging protocols to visualize photoreceptor development and degeneration in children with and without EORDs.
Specific Aim 2: Use SS-HH-OCT parameters to characterize biomarkers of foveal photoreceptor development and degeneration in children with EORDs versus healthy controls.
A total of 80 participants will be enrolled in this study. Participants' age between 0 through 8 years (<9 years).
For children with EORD, successful completion of this study will result in 1) a framework for reproducible OCT imaging; 2) characterization of biomarkers of retinal degeneration; 3) establishment of reference data by genetic variants 4) insights into foveal development. Additionally, this study will set pilot data of structure-function data and timeline of photoreceptor degeneration for future NIH funded studies.
연구 유형
연구 유형
등록 (실제)
등록
단계
단계
- 해당 없음
연락처 및 위치
연구 장소
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North Carolina
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Durham, North Carolina, 미국, 27710
- Duke University Eye Center
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참여기준
자격 기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
설명
Inclusion Criteria:
For all participants:
- Participant's age is between 0 through 8 years (<9 years)
- Parent/legal guardian gives consents for the imaging study
- No ocular media opacities that could preclude imaging
- Refractive error equal or lower than 6 diopters
For EORD participants (Groups 1-2):
Meets clinical and molecular diagnosis of EORD (clinical determined by PI). Molecular diagnosis criteria:
- Autosomal dominant gene: One pathogenic or likely pathogenic variant that meets the clinical phenotype
- Autosomal recessive gene: two pathogenic or likely pathogenic variants in-trans which meet the phenotype.
- X-linked gene: one pathogenic or likely pathogenic variant which meets the phenotype.
For Controls (Group 3): No evidence of retinal pathology
Exclusion Criteria:
For all participants:
- Parent/legal guardian unwilling or unable to provide consent
- Refractive error higher than 6.00 diopters
- Participant has media opacities that preclude imaging
- Any non-IRD ocular condition that confound results interpretation such as glaucoma, uveitis, neurologic conditions affecting the optic nerve, etc.
For EORD participants (Groups 1-2): Does not meet molecular diagnosis criteria
For Controls (Group 3): Any suspicion of IRD
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 주 목적: 다른
- 할당: 무작위화되지 않음
- 중재 모델: 병렬 할당
- 마스킹: 없음(오픈 라벨)
팔의 수
무기와 개입
참가자 그룹 / 팔참가자 그룹 / 팔 |
개입 / 치료개입 / 치료 |
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활성 비교기: Group 1 - Progressive Inherited retinal dystrophy (IRD)
100 participants with progressive IRD; the most common IRD seen at Duke Clinics. |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
다른 이름들:
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활성 비교기: Group 2 - Non-progressive Inherited Retinal Dystrophy (IRD)
20 participants with non-progressive IRD (n=20), a subset of IRDs that are less frequently referred to Duke Clinics |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
다른 이름들:
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활성 비교기: Group 3 - Control participants
50 participants with normal retinal anatomy undergoing anesthesia for strabismus surgery as part of their clinically-indicated care. |
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
다른 이름들:
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연구는 무엇을 측정합니까?
주요 결과 측정
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Number of participants with abnormal microanatomy as measured by OCT reading
기간: Up to 24 months
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Presence of abnormal retinal microanatomy as measured by OCT reading |
Up to 24 months
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Thickness of the participants retina at the fovea and surrounding optic nerve as measured by OCT reading
기간: Up to 24 months
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Retinal thickness (microns) at the fovea and surrounding optic nerve |
Up to 24 months
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공동 작업자 및 조사자
수사관
수사관
- 수석 연구원: Ramiro Maldonado, MD, Duke University Eye Center
간행물 및 유용한 링크
연구 기록 날짜
연구 주요 날짜
연구 시작 (실제)
연구 시작
기본 완료 (실제)
기본 완료
연구 완료 (실제)
연구 완료
연구 등록 날짜
최초 제출
최초 제출
QC 기준을 충족하는 최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
처음 게시됨
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
마지막 업데이트 게시됨
QC 기준을 충족하는 마지막 업데이트 제출
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마지막으로 확인됨
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추가 정보
이 연구와 관련된 용어
기타 연구 ID 번호
기타 연구 ID 번호
- Pro00113941
개별 참가자 데이터(IPD) 계획
개별 참가자 데이터(IPD)를 공유할 계획입니까?
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
미국 FDA 규제 기기 제품 연구
미국에서 제조되어 미국에서 수출되는 제품
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