Clinical trials: Retinal Dystrophies, active
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Retinal Disease, AMD
Cell Collection to Study Eye Diseases
Background: Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye.
- Conditions
- Retinal Disease, AMD, Retinal Degeneration, Retinitis Pigmentosa
- Trial name
- NCT01432847
- Where
- United States
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
ABCA4 Retinopathy, Stargardt Disease
Oral Metformin for Treatment of ABCA4 Retinopathy
Background: ABCA4 retinopathy is a genetic disease in which the ABCA4 protein is absent or faulty. It can cause waste material to collect in the eye and may cause cells to die. The cell death can lead to vision loss.
- Conditions
- ABCA4 Retinopathy, Stargardt Disease, Retinal Dystrophy, Retinal Degeneration
- Trial name
- NCT04545736
- Testing
- Metformin hydrochloride
- Where
- 2 sites in United States
- Volunteers
- 55 people
- Sponsor
- National Eye Institute (NEI)
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Study OpCT-001-101 is a Phase 1/2a first-in-human, multisite, 2-part interventional study to evaluate the safety, tolerability, and the effect on clinical outcomes of OpCT-001 in approximately 54 adults with primary photoreceptor…
- Conditions
- Primary Photoreceptor Disease, Retinitis Pigmentosa (RP), Usher Syndrome, Inherited Retinal Disease (IRD)
- Trial name
- CLARICO (NCT06789445)
- Testing
- OpCT-001
- Where
- 5 sites in United States
- Volunteers
- 54 people
- Sponsor
- BlueRock Therapeutics
Alcohol Use Disorder, Retinal Dystrophies
The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
Oral disulfiram (Antabuse®) has been shown to improve image-forming vision in animal models with retinal degeneration due to its ability to decrease Retinoic Acid synthesis and consequently reduce hyperactivity in the inner…
- Conditions
- Alcohol Use Disorder, Retinal Dystrophies, Age-Related Macular Degeneration, Retinitis Pigmentosa
- Trial name
- NCT06319872
- Testing
- Oral disulfiram
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Rochester
Retinitis Pigmentosa (RP), Rod Cone Dystrophy
Open-Label Study to Evaluate the Safety, Tolerability, and Efficacy of Gene Therapy (SPVN20) in Subjects With Rod-Cone Dystrophy
This open-label, multi-center study is to evaluate the safety, tolerability, and efficacy of escalating doses of a gene therapy called SPVN20 administered via a single intravitreal injection in participants with advanced Rod-Cone…
- Trial name
- NYRVANA (NCT07807111)
- Testing
- SPVN20 (high dose), SPVN20 (medium dose), SPVN20 (low dose)
- Where
- 3 sites in Belgium, France and 1 more
- Volunteers
- 27 people
- Sponsor
- SparingVision
Retinal Dystrophy Due to Biallelic ABCA4 Mutations, Stargardt Disease 1
Safety and Preliminary Efficacy of VG801 in Patients With ABCA4 Mutation-associated Retinal Dystrophy (Stargardt Disease)
This is a single-arm, open-label, non-randomized, single dose-escalation, first-in-human (FIH) clinical trial to evaluate the safety and preliminary efficacy of VG801 for treatment of patients with retinal dystrophy (Stargardt…
- Trial name
- NCT07002398
- Testing
- VG801
- Where
- China
- Volunteers
- 18 people
- Sponsor
- VeonGen Therapeutics GmbH
Inherited Retinal Dystrophy Due to RPE65 Mutations
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject.
- Trial name
- NCT03602820
- Testing
- AAV2-hRPE65v2
- Volunteers
- 41 people
- Sponsor
- Genentech, Inc.
Leber Congenital Amaurosis, LCA
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate…
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Trial name
- NCT03920007
- Testing
- ATSN-101, ATSN-101 Diluent Solution, Prednisone
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Atsena Therapeutics Inc.
Central Visual Impairment, Peripherical Visual Impairment
A Study of Taste- and Olfactory-Evoked Potentials in Patients With Visual Impairment: Taste, Smell, and Vision
Visual impairment, whether central or peripheral, may influence the plasticity of other sensory modalities, such as taste and smell.
- Conditions
- Central Visual Impairment, Peripherical Visual Impairment, Macular Retinal Dystrophy, Peripherical Macular Dystrophy
- Trial name
- GOUSTAVIS (NCT07707219)
- Testing
- Taste and smell evaluation, Recording of evoked potentials (EP)
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Dijon
Retinal Disease, Age-Related Macular Degeneration
Stem Cell Ophthalmology Treatment Study II
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
- Conditions
- Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease
- Trial name
- SCOTS2 (NCT03011541)
- Testing
- Arm 1
- Where
- 4 sites in United States, Austria and 1 more
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
Inherited Retinal Dystrophy, Inherited Retinal Disease
Safety and Efficacy Study of PUMCH-E111 Injection in Subjects With RLBP1 Related Inherited Retinal Dystrophy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E111 injection in subjects with RLBP1 related Inherited Retinal Dystrophy.
- Trial name
- NCT07656753
- Testing
- PUMCH-E111 Injection（Low dose）, PUMCH-E111 Injection（High dose）
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Peking Union Medical College Hospital
ROSAH
Evaluating the Safety and Tolerability of Orally Administered DF-003 in ROSAH Syndrome Patients
The purpose of this study is to evaluate the safety and tolerability of DF-003 in retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome patients.
- Trial name
- NCT06395285
- Testing
- DF-003
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 12 people
- Sponsor
- Shanghai Yao Yuan Biotechnology Ltd. (also known as Drug Farm)
Retinitis Pigmentosa 11, Retinal Degeneration
A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
This is a Phase 1/2 repeat-dose, open-label, two-arm, parallel group safety and efficacy study of two doses of VP-001 (30 μg and 75 μg) in participants with confirmed PRPF31 mutation-associated retinal dystrophy, including…
- Conditions
- Retinitis Pigmentosa 11, Retinal Degeneration, Retinal Disease, Eye Diseases Hereditary
- Trial name
- DINGO (NCT06852963)
- Testing
- VP-001
- Where
- 6 sites in United States
- Volunteers
- 17 people
- Sponsor
- PYC Therapeutics
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Retinitis Pigmentosa
Promising ROd-cone DYstrophy Gene therapY
This is a two-step, multicenter, Phase I/II study including an open-label dose-escalation phase (Step 1) and a three-arm, controlled, double-masked, randomized extension phase (Step 2), in subjects with advanced RCD due to a…
- Trial name
- PRODYGY (NCT05748873)
- Testing
- SPVN06
- Where
- 6 sites in United States, France
- Volunteers
- 33 people
- Sponsor
- SparingVision
Retinal Degeneration, Age-Related Macular Degeneration
Adaptive Optics Imaging of Outer Retinal Diseases
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…
- Conditions
- Retinal Degeneration, Age-Related Macular Degeneration, Retinitis Pigmentosa, Hydroxychloroquine Retinopathy
- Trial name
- NCT05355415
- Testing
- Adaptive optics imaging
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- Food and Drug Administration (FDA)
Retinitis Pigmentosa
Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A (PDE6A), PDE6B and Rhodopsin (RHO)-based retinitis pigmentosa.
- Trial name
- NCT06323772
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- University Hospital Tuebingen
Inherited Retinal Dystrophy Primarily Involving Sensory Retina
Disulfiram for Treatment of Retinal Degeneration
Aberrant retinoic acid signaling driven by the degenerating outer retina leads to pathological changes to the inner retina. The resulting hyperactivity of retinal ganglion cells leads to further diminution of the remaining vision…
- Trial name
- NCT05626920
- Testing
- Disulfiram 250 mg
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Washington