Clinical trials: Inherited Ophthalmic Diseases
Dysthyroid Orbitopathy
Morphometric Analysis of Orbital Structures in Graves´ Orbitopathy
The purpose of this protocol is to study orbital structures in Graves´ Disease using multidetector computed tomography and color doppler imaging.
- Trial name
- NCT00665795
- Where
- Brazil
- Volunteers
- 80 people
- Sponsor
- University of Sao Paulo
Behcet's Disease
Low-dose IL-2 Treatment on Behcet's Disease
The study aims to explore the clinical and immunological efficacy of low-dose IL-2 on Behcet's Disease.
- Trial name
- NCT04065672
- Testing
- Low-dose IL-2
- Where
- China
- Volunteers
- 60 people
- Sponsor
- HeJing
Retinopathy of Prematurity (ROP), ROP Examination
Point-of-Care Ophthalmic Diagnostic Imaging of Retinopathy of Prematurity
The goal of this proposal is to develop novel HH-SECTR technology for visualizing and quantifying diagnostic disease features in prematurely born infant retinopathy of prematurity (ROP) patients that lead to more informed…
- Trial name
- ROP Imaging (NCT06612541)
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Vanderbilt University Medical Center
Retinopathy of Prematurity
Retinal Microanatomy in Retinopathy of Prematurity (BabySTEPS2)
Retinopathy of prematurity (ROP) is a disorder of development of the neural retina and its vasculature that can impact vision in vulnerable preterm neonates for a lifetime.
- Trial name
- BabySTEPS2 (NCT04995341)
- Testing
- Investigational ultracompact OCT and OCTA system, retinal photographs
- Where
- 2 sites in United States
- Volunteers
- 236 people, healthy volunteers welcome
- Sponsor
- Duke University
Albinism, Ocular
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme
- Trial name
- ALAFOR (NCT03959605)
- Testing
- blood sample for genetic test, Ophtalmological examination
- Where
- France
- Volunteers
- 48 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Wolfram Syndrome, Diabetes Mellitus
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type…
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness
- Trial name
- NCT02841553
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Washington University School of Medicine
Pulmonary Fibrosis, Healthy Volunteers
Analysis of Specimens From Individuals With Pulmonary Fibrosis
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination…
- Conditions
- Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT00084305
- Where
- United States
- Volunteers
- 315 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Thyroid Eye Disease
The Effect of a New Antioxidant Combination (ASTED) on Moderate to Severe Thyroid Eye Disease
ASTED (Antioxidant Supplements for TED) trial is an investigator-initiated, randomized, triple masked, clinical trial of a selected combination of vitamins and minerals versus placebo in patients with moderate to severe thyroid…
- Trial name
- NCT02422368
- Testing
- Methylprednisolone + ASTED
- Where
- 2 sites in Iran
- Sponsor
- Iran University of Medical Sciences
Retinopathy of Prematurity (ROP)
Aflibercept for Retinopathy of Prematurity - Intravitreal Injection Versus Laser Therapy
The purpose of this study is to demonstrate how well aflibercept works in babies with ROP, comparing it with laser therapy. The study also has the objective to demonstrate how safe aflibercept is when used in babies, and describe…
- Trial name
- FIREFLEYE (NCT04004208)
- Testing
- Eylea (Aflibercept, BAY86-5321), Laser photocoagulation
- Where
- 90 sites in Argentina, Austria and 25 more
- Volunteers
- 113 people
- Sponsor
- Bayer
Fuchs' Endothelial Corneal Dystrophy
Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology
Background Fuchs' Endothelial Dystrophy Fuchs' Endothelial Dystrophy (Fuchs' ED) is characterized by changes on the inside of the cornea, which leads to a substantial decline in visual acuity.
- Trial name
- NCT01979250
- Testing
- DSAEK surgery
- Where
- Denmark
- Volunteers
- 81 people
- Sponsor
- Aarhus University Hospital
Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment
Intravitreal Triamcinolone and Biomarkers in Rhegmatogenous Retinal Detachment
This prospective, randomized, controlled clinical study evaluates the effects of preoperative intravitreal triamcinolone acetonide (TA) on growth factors and inflammatory mediators in patients with rhegmatogenous retinal…
- Trial name
- NCT07774182
- Testing
- Standard Vitrectomy, Triamcinolone acetonide (TA)
- Where
- Indonesia
- Volunteers
- 60 people
- Sponsor
- Anggun Rama Yudantha
Antiphospholipid Syndrome (APS), Bullous Pemphigoid (BP)
Phase 1b Trial of RAY121 in Immunological Diseases (RAINBOW Trial)
This Phase 1b basket trial will investigate the safety, tolerability, pharmacokinetics, pharmacodynamics, immunogenicity and preliminary efficacy of RAY121, a inhibitor of classical complement pathway, after multiple dose…
- Conditions
- Antiphospholipid Syndrome (APS), Bullous Pemphigoid (BP), Behçet's Syndrome (BS), Dermatomyositis (DM)
- Trial name
- NCT06371417
- Testing
- RAY121
- Where
- 77 sites in United States, Australia and 18 more
- Volunteers
- 144 people
- Sponsor
- Chugai Pharmaceutical
Retinopathy of Prematurity
Effects of Early Vitamin A Supplementation on the Risk for Retinopathy of Prematurity in Extremely Preterm Infants
Retinopathy of prematurity (ROP) is a common retinal neovascular disorder and major cause of vision impairment or blindness, despite current treatment of late stage ROP.
- Trial name
- NCT03154723
- Testing
- Vitamin A
- Where
- China
- Volunteers
- 262 people, healthy volunteers welcome
- Sponsor
- Huiqing Sun
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Neurofibromatosis Type 1, Plexiform Neurofibroma
Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours
Phase I and II study of the MEK inhibitor Selumetinib given twice daily on 5 out of 7 days in children with NF1 and inoperable plexiform neurofibromas or progressive/relapsed optic pathway gliomas.
- Conditions
- Neurofibromatosis Type 1, Plexiform Neurofibroma, Optic Nerve Glioma
- Trial name
- INSPECT (NCT03326388)
- Testing
- Selumetinib
- Where
- 2 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Retinitis Pigmentosa
Biomarkers In Retinitis Pigmentosa (BIRP)
In this study, markers of oxidative stress will be measured in the aqueous humour and plasma of RP patients compared to controls.
- Trial name
- BIRP (NCT01949623)
- Testing
- Anterior Chamber (AC) tap
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Johns Hopkins University
Retinitis Pigmentosa
Post-Market Study of the Argus® II Retinal Prosthesis System - France
This is a post-market study of the Argus II Retinal Prosthesis System. The study is being conducted in France. The objective of the study is to obtain data to further demonstrate the effectiveness and evaluate the safety of Argus…
- Trial name
- NCT02303288
- Testing
- Argus II Retinal Prosthesis System
- Where
- 3 sites in France
- Volunteers
- 18 people
- Sponsor
- Second Sight Medical Products
Retinoblastoma, Extraocular
Intrathecal Chemotherapy for Central Nervous System Metastasis in Retinoblastoma
Retinoblastoma is the most common intraocular malignancy in infancy and childhood. The overall survival rate of retinoblastoma was reported to exceed 95% when children were early diagnosed with localized intraocular phase.
- Trial name
- NCT04903678
- Testing
- Melphalan
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Eye & ENT Hospital of Fudan University
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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