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| Name | Class |
|---|---|
| National Eye Institute (NEI) | NIH |
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The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.
Objective: The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.
Study Population: Up to fifty (50) healthy volunteers without eye disease (Cohort 1) and up to fifty (50) affected participants with any type of outer retinal disease (Cohort 2) will be enrolled.
Design: This is a longitudinal study protocol where participants will be imaged with investigational multimodal AO (mAO) retinal imaging systems that include optical coherence tomography (OCT) and scanning laser ophthalmoscopy (SLO) channels over three years. High resolution OCT and SLO videos will be collected while the instruments automatically detect and correct for image distortion caused by ocular aberrations. In general, videos of different retinal cellular structures will be acquired from several retinal locations using various imaging modes.
Outcome Measures: The primary outcomes for this protocol are development of new diagnostic methods and disease biomarkers, investigation of cellular morphological and functional changes due to various outer retinal diseases, and development of new AO clinical endpoints for novel therapies.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Outer retinal disease | Subjects with outer retinal disease affecting the photoreceptor-retinal pigment epithelium complex will be classified by clinical exam by an experienced retina specialist. Outer retinal disease subjects will undergo adaptive optics (AO) imaging of several macular locations. |
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| Healthy control | Age-matched healthy control subjects will undergo the same AO imaging procedures as subjects with outer retinal diseases. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Adaptive optics imaging | Device | Adaptive optics scanning laser ophthalmoscopy (AOSLO) and adaptive optics - optical coherence tomography (AO-OCT) retinal imaging |
|
| Measure | Description | Time Frame |
|---|---|---|
| Photoreceptor (PR) density | PR density will be calculated at specific retinal eccentricities from cells counted in average AO-OCT volumes or average AOSLO frames. | PR density will be calculated once at the AO imaging session in which PRs are the target. |
| Retinal pigment epithelial (RPE) cell density | RPE cell density will be calculated at specific retinal eccentricities from cells counted in average AO-OCT volumes. | RPE cell density will be calculated once at the AO imaging session in which RPE cells are the target. |
| RPE cell organelle motility | RPE cell organelle motility will be calculated from the decorrelation time constant for cells segmented from a sequence of AO-OCT volumes. | RPE motility will be calculated once at the AO imaging session in which RPE cells are the target. For the reproducibility portion of the study, RPE organelle motility will be quantified three times separated by 1-2 weeks. |
| PR cell function | Photoreceptor cell (cone) function will be measured from phase changes between inner segment - outer segment junction and cone outer segment tip signals in a sequence of AO-OCT volumes collected during visible light stimulation. | PR function will be calculated once at the AO imaging session in which PR cells are stimulated. For the reproducibility portion of the study, PR cell function will be quantified three times separated by 1-2 weeks. |
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Inclusion Criteria:
Exclusion Criteria:
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All study participants will be recruited from the NIH patient population.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Daniel X Hammer, Ph.D. | Contact | 301-796-9320 | daniel.hammer@fda.hhs.gov | |
| Zhuolin Liu, Ph.D. | Contact | 301-796-7914 | zhuolin.liu@fda.hhs.gov |
| Name | Affiliation | Role |
|---|---|---|
| Daniel X Hammer, Ph.D. | Food and Drug Administration (FDA) | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| NIH Clinical Center | Recruiting | Bethesda | Maryland | 20810 | United States |
De-identified AO images will be shared with external academic collaborators.
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For the duration of the study.
Available upon request.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Sep 11, 2025 | May 6, 2026 |
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| Food and Drug Administration | Recruiting | Silver Spring | Maryland | 20993 | United States |
|
| Prot_005.pdf |
| ICF | No | No | Yes | Informed Consent Form | Feb 20, 2026 | May 6, 2026 | ICF_006.pdf |
| ID | Term |
|---|---|
| D012162 | Retinal Degeneration |
| D008268 | Macular Degeneration |
| D012174 | Retinitis Pigmentosa |
| D052245 | Usher Syndromes |
| C565309 | Late-Onset Retinal Degeneration |
| D000077765 | Cone Dystrophy |
| D000071700 | Cone-Rod Dystrophies |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |
| D058499 | Retinal Dystrophies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D054062 | Deaf-Blind Disorders |
| D003638 | Deafness |
| D034381 | Hearing Loss |
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D006319 | Hearing Loss, Sensorineural |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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