| 1 |
NCT01097564 |
Completed |
COL4A1 Gene Related Cerebra-retinal Angiopathy |
- Cerebra-retinal Angiopathy
|
- Genetic: COL4A1 genetic testing
|
Observational |
|
- Assistance Publique - Hôpitaux de Paris
- Ministry of Health, France
|
Other |
- Observational Model: Case Control
- Time Perspective: Cross-Sectional
|
- Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.
- To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.
- To define any genotype-phenotype correlation in COL4A1 gene disease.
- Application of the results in daily clinical practice
|
132 |
All |
Child, Adult, Senior |
NCT01097564 |
P081214
2009-A01163-54 |
COL4A1 |
February 2010 |
March 2015 |
March 2015 |
April 1, 2010 |
January 15, 2016 |
|
- Hôpital LARIBOISIERE Neurology Department
Paris, France
|
| 2 |
NCT03504540 |
Recruiting
New |
Comparison of Complement Factors and Genetic Polymorphisms of AMD Between Patients With Systemic Lupus Erythematosus (SLE) With and Without Retinal "Pseudo-drusen-like" Deposits: Case-control Study (PL-AMD) |
- Lupus Erythematosus
- Lupus Erythematosus, Systemic
- Age Related Macular Degeneration
|
|
Observational |
|
- Fondation Ophtalmologique Adolphe de Rothschild
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Comparison of AMD genetic polymorphisms between case and control patients
- Comparison of complement factors between case and control patients
|
60 |
All |
18 Years to 50 Years (Adult) |
NCT03504540 |
MMT_2018_1 |
PL-AMD |
April 5, 2018 |
November 2018 |
November 2018 |
April 20, 2018 |
April 20, 2018 |
|
- Fondation ophtalmologique Adolphe de Rothschild
Paris, France
|
| 3 |
NCT00231010 |
Completed |
Molecular Genetics of Retinal Degenerations |
- Retinal Degeneration
- Retinitis Pigmentosa
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Family-Based
- Time Perspective: Other
|
|
3549 |
All |
4 Years and older (Child, Adult, Senior) |
NCT00231010 |
050143
05-EI-0143 |
|
September 26, 2005 |
|
June 23, 2016 |
October 3, 2005 |
April 5, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Harvard Medical School
Boston, Massachusetts, United States - Cleveland Clinic Foundation Childrens Hospital
Cleveland, Ohio, United States - (and 3 more...)
|
| 4 |
NCT01880788 |
Completed |
Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD |
- Age Related Macular Degeneration
- Choroidal Neovascularization
- Central Serous Chorioretinopathy
|
|
Observational |
|
- Sequenom, Inc.
- Vitreous -Retina- Macula Consultants of New York
|
Industry / Other |
- Observational Model: Case Control
- Time Perspective: Prospective
|
|
152 |
All |
30 Years and older (Adult, Senior) |
NCT01880788 |
SCMM-AMD-107 |
|
November 2012 |
March 2015 |
August 2015 |
June 19, 2013 |
September 18, 2015 |
|
- Vitreous Retina Macula Consultants of New York
New York City, New York, United States
|
| 5 |
NCT01229540 |
Terminated |
Clinical Research on Retinal Neovascularization of Diabetic Retinopathy |
- The Mechanism of Retinal Neovascularization of Diabetic
- Retinopathy.
|
- Genetic: genetic analyzer
|
Interventional |
Not Applicable |
- Tianjin Medical University
|
Other |
|
|
|
All |
45 Years to 74 Years (Adult, Senior) |
NCT01229540 |
08ZCGYSF01700 |
|
|
|
|
October 27, 2010 |
October 27, 2010 |
|
- Tianjin Eye Hospital, Clinical college of Ophthalmology ,Tianjin Medical Univercity
Tianjin, Tianjin, China
|
| 6 |
NCT01145196 |
Recruiting |
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use.
|
120 |
All |
18 Years and older (Adult, Senior) |
NCT01145196 |
100140
10-EI-0140 |
|
June 1, 2010 |
|
|
June 16, 2010 |
March 29, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 7 |
NCT02291887 |
Completed |
Genetic Analysis of Patients Responsive to Ranibizumab But Resistant to Aflibercept |
- Age-Related Macular Degeneration
|
- Drug: Ranibizumab
- Drug: Aflibercept
|
Observational |
|
- Associated Retinal Consultants, Michigan
- Genentech, Inc.
- Associated Retinal Consultants, Michigan
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
- Genetic characteristics of patients responsive to Ranibizumab but Resistant to Aflibercept
|
13 |
All |
40 Years and older (Adult, Senior) |
NCT02291887 |
ARCMichigan |
|
December 22, 2014 |
July 1, 2015 |
July 1, 2015 |
November 17, 2014 |
November 17, 2017 |
|
- Associated Retinal Consultants
Royal Oak, Michigan, United States
|
| 8 |
NCT00422721 |
Completed |
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy |
- Amaurosis
- Retinal Diseases
|
- Procedure: realization of a family tree
- Procedure: refractometry
- Procedure: evaluation of the presence of a nystagmus
- (and 11 more...)
|
Interventional |
Not Applicable |
- Nantes University Hospital
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
|
360 |
All |
Child, Adult, Senior |
NCT00422721 |
BRD 06/8-F
ID RCB 2006-A00192-49 |
|
April 2007 |
|
|
January 17, 2007 |
November 24, 2011 |
|
- CHU de Nantes
Nantes, France
|
| 9 |
NCT00100230 |
Completed
Has Results |
DHA and X-Linked Retinitis Pigmentosa |
- Retinitis Pigmentosa
- X-linked Genetic Diseases
|
- Drug: docosahexaenoic acid OR corn/soy oil placebo
|
Interventional |
Phase 2 |
- Retina Foundation of the Southwest
- Foundation Fighting Blindness
- DSM Nutritional Products, Inc.
- Retina Foundation of the Southwest
|
Other / Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Prevention
|
- Rate of LOSS of 31 Hertz Cone Electroretinographic Function
- Rate of LOSS of Rod Electroretinographic Function
|
78 |
Male |
7 Years to 32 Years (Child, Adult) |
NCT00100230 |
2543
FD-R-002543
5R01FD002543
C-TX02-0704-0274 |
|
September 2004 |
May 2012 |
August 2014 |
December 28, 2004 |
March 17, 2015 |
March 17, 2015 |
- Retina Foundation of the Southwest
Dallas, Texas, United States
|
| 10 |
NCT01310686 |
Active, not recruiting |
Genetics Study of Wet Age-Related Macular Degeneration (AMD) Non-Responders to Vascular Endothelial Growth Factor (VEGF) Therapy |
|
|
Observational |
|
- West Coast Retina Medical Group, Inc.
- Genentech, Inc.
- West Coast Retina Medical Group, Inc.
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
- Genetic analysis of patients with chronic wet age-related macular degeneration despite continuous anti-VEGF treatment
- To evaluate demographic and clinical characteristics in patients treated with anti-VEGF therapy who fail to respond completely.
|
40 |
All |
Child, Adult, Senior |
NCT01310686 |
FVF4990s |
|
April 2011 |
June 2018 |
June 2018 |
March 8, 2011 |
November 13, 2017 |
|
- West Coast Retina Medical Group, Inc.
San Francisco, California, United States
|
| 11 |
NCT01115387 |
Active, not recruiting |
GARM II: A Study on the Genetics of Age-related Maculopathy |
- Age-related Macular Degeneration
- Age-related Maculopathy
|
- Other: Observational-1
- Other: Observational-2
|
Observational |
|
- University of California, Los Angeles
- Jules Stein Eye Institute
- University of Pittsburgh
- National Eye Institute (NEI)
|
Other / NIH |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- The incidence and prevalence of retinal findings associated with early (and more advanced) age-related maculopathy in the study cohorts.
|
603 |
All |
49 Years and older (Adult, Senior) |
NCT01115387 |
08-11-008
5R01EY009859 |
|
August 2009 |
February 2016 |
August 2020 |
May 4, 2010 |
November 13, 2017 |
|
- Jules Stein Eye Institute, Dept. of Ophthalmology David Geffen School of Medicine at UCLA
Los Angeles, California, United States - University of Pittsburgh
Pittsburgh, Pennsylvania, United States
|
| 12 |
NCT00106756 |
Completed |
Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy |
- Exudatiaon
- Avascular Retina
- Retina Fold
- (and 3 more...)
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
105 |
All |
1 Year and older (Child, Adult, Senior) |
NCT00106756 |
050104
05-EI-0104 |
|
March 18, 2005 |
November 1, 2006 |
November 1, 2006 |
March 30, 2005 |
July 2, 2017 |
|
- Izaak Walton Killam Grace Health Centre
Halifax, Canada - St. James University
Leeds, United Kingdom
|
| 13 |
NCT02762188 |
Completed |
Genetic Biomarkers for the Response to Anti-VEGF (Vascular Endothelial Growth Factor).Treatment in Wet Age-related Macular Degeneration (Wet ARMD) |
- Age-Related Macular Degeneration
|
- Device: Genotype analysis
|
Interventional |
Not Applicable |
- Brugmann University Hospital
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Basic Science
|
- Snellen visual acuity test result
- Number of injections received per year
- Central foveal thickness (µm)
- (and 3 more...)
|
501 |
All |
18 Years and older (Adult, Senior) |
NCT02762188 |
CHUB-SAMBA |
|
August 1, 2013 |
January 18, 2018 |
January 18, 2018 |
May 4, 2016 |
January 23, 2018 |
|
- CHU Brugmann
Brussels, Belgium
|
| 14 |
NCT02970266 |
Completed |
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. |
- Leber Congenital Amaurosis
|
|
Observational |
|
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
- Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
- Measurement of visual acuity using the logarithmic scale for children under 5
- Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision
- (and 8 more...)
|
659 |
All |
Child, Adult, Senior |
NCT02970266 |
P081257 |
GENPHENACL |
September 2010 |
September 2015 |
November 2016 |
November 21, 2016 |
November 21, 2016 |
|
- Necker-Enfants Malades Hospital
Paris, France
|
| 15 |
NCT01482195 |
Recruiting |
Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations |
|
- Genetic: Recombinant Adeno-Associated Virus
|
Interventional |
Phase 1 |
- Fowzan Alkuraya
- King Khaled Eye Specialist Hospital
- King Faisal Specialist Hospital & Research Center
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Ocular and Systemic safety of uniocular subretinal administration of rAAV2-VMD2-hMERTK in individuals with MERTK-associated retinal disease
- Visual Outcome
|
6 |
All |
14 Years to 70 Years (Child, Adult, Senior) |
NCT01482195 |
0916-P |
|
August 2011 |
August 2014 |
August 2023 |
November 30, 2011 |
November 30, 2011 |
|
- King Khaled Eye Specialist Hospital
Riyadh, Saudi Arabia
|
| 16 |
NCT01496625 |
Recruiting |
National Eye Institute Biorepository for Retinal Diseases |
- Age-Related Macular Degeneration
- Diabetic Retinopathy
- Von Hippel-Lindau Syndrome
- (and 2 more...)
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Interaction of key parameters of phenotype (like visual acuity, retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens; and characterization of new experimental models of eye health and di...
|
2300 |
All |
Child, Adult, Senior |
NCT01496625 |
120042
12-EI-0042 |
|
December 1, 2011 |
|
|
December 21, 2011 |
April 4, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 17 |
NCT02471287 |
Recruiting |
Genetics of Inherited Eye Disease |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Since this is an evaluation and treatment and repository protocol, there are no formal outcomes to be measured; however all patients in the NEI clinic have visual acuity measured at every visit, so this can be used as a measure of adverse exper...
|
1000 |
All |
Child, Adult, Senior |
NCT02471287 |
150128
15-EI-0128 |
|
June 12, 2015 |
May 1, 2020 |
May 1, 2020 |
June 15, 2015 |
March 29, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 18 |
NCT02309866 |
Unknown † |
Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases |
|
|
Observational |
|
- Hillel Yaffe Medical Center
- Technion, Israel Institute of Technology
|
Other |
- Observational Model: Case-Only
- Time Perspective: Cross-Sectional
|
- Percent of patients in whom common founder mutations in known RP-related gene are found
- Percent of patients in whom mutations in novel RP-related genes are found
|
100 |
All |
Child, Adult, Senior |
NCT02309866 |
83-13 |
|
January 2015 |
January 2017 |
January 2018 |
December 5, 2014 |
December 5, 2014 |
|
|
| 19 |
NCT01235624 |
Completed |
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes |
- Autosomal Dominant Retinitis Pigmentosa
|
- Genetic: genetic analysis
|
Interventional |
Not Applicable |
- University Hospital, Montpellier
- Ministry of Health, France
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
- identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
|
1161 |
All |
5 Years to 80 Years (Child, Adult, Senior) |
NCT01235624 |
UF 8300
2008-A01238-47 |
|
March 2009 |
April 2013 |
April 2013 |
November 5, 2010 |
November 6, 2013 |
|
- CHRU Montpellier
Montpellier, France
|
| 20 |
NCT00106743 |
Active, not recruiting |
Natural History and Genetic Studies of Usher Syndrome |
- Retinitis Pigmentosa Syndromic
- Congenital Deafness
- Usher Syndrome
- (and 2 more...)
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- The primary outcomes of interest are the probands genotype and phenotype.
|
249 |
All |
2 Years and older (Child, Adult, Senior) |
NCT00106743 |
050096
05-EI-0096 |
|
March 21, 2005 |
|
|
March 30, 2005 |
April 5, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Queens College of the City University of New York
New York, New York, United States
|
| 21 |
NCT00647439 |
Recruiting |
Genetics and Markers of Degenerative and Inflammatory Eye Diseases |
- Diabetic Retinopathy
- Age-Related Macular Degeneration (AMD)
- Uveitis
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Case-Control
- Time Perspective: Other
|
|
1000 |
All |
4 Years and older (Child, Adult, Senior) |
NCT00647439 |
080099
08-EI-0099 |
|
March 27, 2008 |
|
|
March 31, 2008 |
April 23, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 22 |
NCT02435940 |
Recruiting |
Inherited Retinal Degenerative Disease Registry |
- Eye Diseases Hereditary
- Retinal Disease
- Achromatopsia
- (and 25 more...)
|
|
Observational |
|
- Foundation Fighting Blindness Clinical Research Institute
|
Other |
- Observational Model: Other
- Time Perspective: Prospective
|
- Number of Participants with Rare Diagnoses Within the Inherited Retinal Degenerative Disease Category as Defined by Clinical Evaluation
|
20000 |
All |
Child, Adult, Senior |
NCT02435940 |
FFB-Registry-01 |
|
June 2014 |
June 2037 |
June 2037 |
May 6, 2015 |
September 14, 2017 |
|
- Foundation Fighting Blindness
Columbia, Maryland, United States
|
| 23 |
NCT01278277 |
Active, not recruiting |
Saffron Supplementation in Stargardt's Disease |
- Retinal Degeneration
- Genetic Disease
- Single-Gene Defects
- Macular Dystrophy
|
- Dietary Supplement: Saffron supplementation
- Other: placebo
|
Interventional |
Phase 1
Phase 2 |
- Catholic University of the Sacred Heart
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Focal electroretinogram (FERG)
- Psychophysical recovery of cone system sensitivity after bleaching
|
30 |
All |
8 Years to 60 Years (Child, Adult) |
NCT01278277 |
STARSAF02 |
STARSAF02 |
February 2011 |
November 2017 |
December 2017 |
January 17, 2011 |
July 19, 2017 |
|
- Policlinico A. Gemelli
Rome, Italy
|
| 24 |
NCT01650948 |
Completed |
Genetic Load and Phenotype in Aggressive AMD |
- Age-related Macular Degeneration
|
- Device: RetnaGene AMD LDT
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED).
|
100 |
All |
50 Years and older (Adult, Senior) |
NCT01650948 |
SQNM-AMD-106 |
RPED Genetics |
July 2012 |
December 2013 |
December 2013 |
July 26, 2012 |
January 20, 2014 |
|
- Pacific Eye Associates
San Francisco, California, United States - Retina Associates of Kentucky
Lexington, Kentucky, United States - Tennessee Retina
Nashville, Tennessee, United States
|
| 25 |
NCT00001166 |
Completed |
Gyrate Atrophy of the Choroid and Retina |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
65 |
All |
Child, Adult, Senior |
NCT00001166 |
780001
78-EI-0001 |
|
January 1978 |
|
March 2004 |
November 4, 1999 |
March 4, 2008 |
|
- National Eye Institute (NEI)
Bethesda, Maryland, United States
|
| 26 |
NCT00055029 |
Recruiting |
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Family-Based
- Time Perspective: Prospective
|
|
500 |
All |
9 Months and older (Child, Adult, Senior) |
NCT00055029 |
030033
03-EI-0033 |
|
February 12, 2003 |
|
|
February 17, 2003 |
March 29, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 27 |
NCT03492853 |
Completed
New |
The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration |
- Peripheral Retinal Degenerations, Age Related Macular Degeneration Polymorphisms
|
- Genetic: DNA extraction and sequencing
|
Observational |
|
- University Hospital "Sestre Milosrdnice"
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- the association of the peripheral retina changes and genotyping
|
310 |
All |
50 Years and older (Adult, Senior) |
NCT03492853 |
UHSestre1 |
|
January 1, 2015 |
September 20, 2016 |
December 29, 2016 |
April 10, 2018 |
April 10, 2018 |
|
|
| 28 |
NCT02723448 |
Recruiting |
Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy |
- Vasculopathy, Retinal, With Cerebral Leukodystrophy
- Cerebroretinal Vasculopathy, Hereditary
|
|
Interventional |
Phase 1 |
- Washington University School of Medicine
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in Lesion Pattern on Fluid-Attenuated Inversion Recovery (FLAIR) Magnetic Resonance Imaging (MRI) in Retinal Vasculopathy Cerebral Leukodystrophy (RVCL) patients
|
10 |
All |
18 Years and older (Adult, Senior) |
NCT02723448 |
ATK2016001 |
RVCL |
December 2016 |
December 2018 |
March 2019 |
March 30, 2016 |
December 16, 2016 |
|
- Washington University School of Medicine
Saint Louis, Missouri, United States
|
| 29 |
NCT00076271 |
Completed |
Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
350 |
All |
Child, Adult, Senior |
NCT00076271 |
040039
04-EI-0039 |
|
January 14, 2004 |
|
October 28, 2008 |
January 19, 2004 |
July 2, 2017 |
|
- Rocky Mountain Lions Eye Institute
Denver, Colorado, United States - National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 30 |
NCT02102880 |
Recruiting |
The Role of Complement Factor H Polymorphism in the Regulation of Choroidal Vascular Tone in Young Healthy Subjects |
- Age-Related Macular Degeneration
|
- Genetic: the polymerase chain reaction (PCR)
|
Interventional |
Not Applicable |
- Medical University of Vienna
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Other
|
- Choroidal blood flow during isometric exercise (LDF)
- Flicker induced vasodilatation, expressed as percent change to baseline (DVA)
- Genotyping (PCR)
- (and 2 more...)
|
220 |
All |
18 Years to 45 Years (Adult) |
NCT02102880 |
OPHT-040214 |
|
March 2015 |
January 2019 |
April 2019 |
April 3, 2014 |
January 9, 2018 |
|
- Department of Clinical Pharmacology, Medical University of Vienna
Vienna, Austria
|
| 31 |
NCT02257333 |
Recruiting |
Retinal Thrombosis and Atherosclerosis |
|
|
Observational |
|
- University of Roma La Sapienza
- University of Florence
|
Other |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Retinal Venous Occlusion Prevalence
- Atherosclerotic Risk Profile in RVO
- Visual Acuity
- (and 2 more...)
|
1000 |
All |
18 Years and older (Adult, Senior) |
NCT02257333 |
HEART VISION |
HEART-VISION |
September 2015 |
September 2017 |
September 2019 |
October 6, 2014 |
October 8, 2015 |
|
- Sapienza University of Rome - Policlinico Umberto I Roma
Rome, I, Italy
|
| 32 |
NCT00427063 |
Completed |
Heredity of Retinal Vessel Tortuosity |
- Retinopathy of Prematurity
|
|
Observational |
|
- Glostrup University Hospital, Copenhagen
- Juvenile Diabetes Research Foundation
|
Other |
- Observational Model: Defined Population
- Observational Model: Natural History
- Time Perspective: Cross-Sectional
- Time Perspective: Prospective
|
|
218 |
All |
20 Years to 46 Years (Adult) |
NCT00427063 |
Danish Twin Registry 1998 |
|
January 1998 |
|
December 1998 |
January 26, 2007 |
January 26, 2007 |
|
- Department of Ophthalmology Glostrup Hospital
Glostrup, Copenhagen County, Denmark
|
| 33 |
NCT00016471 |
Completed |
A Genetic Analysis of Usher Syndrome in Ashkenazi Jews |
- Usher Syndrome
- Retinitis Pigmentosa
- Congenital Hearing Impairment
|
- Procedure: Audiogram
- Procedure: Electroretinogram
|
Observational |
|
- National Center for Research Resources (NCRR)
|
NIH |
- Observational Model: Defined Population
- Observational Model: Natural History
|
|
|
All |
Child, Adult, Senior |
NCT00016471 |
NCRR-M01RR00071-0374 |
|
March 2001 |
|
February 2002 |
May 9, 2001 |
June 24, 2005 |
|
- Mount Sinai School of Medicine
New York, New York, United States
|
| 34 |
NCT01846052 |
Completed |
Clinical and Genetic Characterization of Individuals With Achromatopsia |
|
|
Observational |
|
- Applied Genetic Technologies Corp
- National Eye Institute (NEI)
- Applied Genetic Technologies Corp
|
Industry / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Visual acuity
- Color Vision
- Adaptive Optics Retinal Imaging
|
56 |
All |
6 Years and older (Child, Adult, Senior) |
NCT01846052 |
ACHM-001
1R24EY022023 |
|
June 2013 |
April 2017 |
April 2017 |
May 3, 2013 |
October 13, 2017 |
|
- VitreoRetinal Associates
Gainesville, Florida, United States - Bascom Palmer Eye Institute
Miami, Florida, United States - Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
Chicago, Illinois, United States - (and 2 more...)
|
| 35 |
NCT00481546 |
Active, not recruiting |
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations |
- Amaurosis of Leber
- Retinal Diseases
|
- Genetic: rAAV2-CBSB-hRPE65
|
Interventional |
Phase 1 |
- University of Pennsylvania
- National Eye Institute (NEI)
|
Other / NIH |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The primary safety endpoint in this trial is the standard ocular examination. Toxicity will also be assessed by measurement of vision, hematology and serum chemistries, assays for vector genomes, reported subject history of symptoms and adverse events.
- Visual function will be quantified prior to and after vector administration in order to determine whether vector administration affects visual function.
|
15 |
All |
8 Years and older (Child, Adult, Senior) |
NCT00481546 |
547233
Grant: 1 U10 EY017280-01;
UP IRB: 804582;
UP IBC: 06-105;
UF GCRC: 675;
UF IBC RD: 2795;
WIRB: 20061300 |
LCA |
July 2007 |
June 2026 |
June 2026 |
June 1, 2007 |
August 24, 2017 |
|
- Shands Children's Hospital, University of Florida
Gainesville, Florida, United States - Scheie Eye Institute, University of Pennsylvania
Philadelphia, Pennsylvania, United States
|
| 36 |
NCT01644513 |
Completed |
Evaluation of the Association Between Genetic Load and Response to Anti-VEGF Therapy in AMD Patients |
- Age Related Macular Degeneration
|
|
Observational |
|
- Sequenom, Inc.
- Center for Eye Research and Education
|
Industry / Other |
- Observational Model: Case Control
- Time Perspective: Prospective
|
|
196 |
All |
55 Years and older (Adult, Senior) |
NCT01644513 |
SCMM-AMD-105 |
EVERGREEN |
July 2012 |
December 2012 |
December 2012 |
July 19, 2012 |
February 12, 2013 |
|
- Ophthalmic Consultants Boston
Boston, Massachusetts, United States
|
| 37 |
NCT03180190 |
Not yet recruiting |
Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine) |
|
- Drug: Hydroxychloroquine Oral Tablet
|
Observational |
|
|
Other |
- Observational Model: Case-Only
- Time Perspective: Cross-Sectional
|
- HCQ toxicity in Egyptian patients
- genetic variant
|
50 |
All |
18 Years to 60 Years (Adult) |
NCT03180190 |
Hydroxychloroquine |
HCQ |
June 28, 2017 |
June 28, 2018 |
July 28, 2018 |
June 8, 2017 |
June 9, 2017 |
|
|
| 38 |
NCT00272376 |
Completed |
Clinical and Genetic Studies in Families With Myopia and Related Diseases |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Family-Based
- Time Perspective: Retrospective
|
- Statistically significant linkage
|
851 |
All |
4 Years and older (Child, Adult, Senior) |
NCT00272376 |
060058
06-EI-0058 |
|
December 21, 2005 |
|
July 29, 2016 |
January 5, 2006 |
April 23, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Zhongshan Ophthalmic Center, Sun Yat-sen University
Guangzho, China
|
| 39 |
NCT03496012 |
Recruiting
New |
Efficacy and Safety of AAV2-REP1 for the Treatment of Choroideremia |
|
|
Interventional |
Phase 3 |
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Single (Outcomes Assessor)
- Primary Purpose: Treatment
|
- Best Corrected Visual Acuity
- Fundus autofluorescence (AF)
- Optical coherence tomography
- (and 3 more...)
|
140 |
Male |
18 Years and older (Adult, Senior) |
NCT03496012 |
NSR-REP-01
2015-003958-41 |
STAR |
December 11, 2017 |
March 31, 2020 |
March 31, 2020 |
April 12, 2018 |
April 12, 2018 |
|
- Jules Stein Eye Institute, University of California
Los Angeles, California, United States - Bascom Palmer Eye Institute
Miami, Florida, United States - The Johns Hopkins Hospital
Baltimore, Maryland, United States - (and 12 more...)
|
| 40 |
NCT03396042 |
Recruiting |
Natural History Study of CEP290-Related Retinal Degeneration |
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Characterize CEP290-related retinal degeneration
|
40 |
All |
3 Years to 99 Years (Child, Adult, Senior) |
NCT03396042 |
EDIT-NHS01 |
|
December 21, 2017 |
August 31, 2019 |
August 31, 2019 |
January 10, 2018 |
April 20, 2018 |
|
- Bascom Palmer Eye Institute
Miami, Florida, United States - Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States - W.K. Kellogg Eye Center
Ann Arbor, Michigan, United States
|
| 41 |
NCT01464710 |
Completed |
Genetic Assessment of Early to Late Macular Degeneration Study |
- Age-related Macular Degeneration
|
|
Observational |
|
- University of California, San Diego
- Genentech, Inc.
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- To determine the allele frequency for patients that progress to bilateral advanced AMD in the study eye
- To determine the allele frequency for patients that do not progress to bilateral advanced AMD in the study eye.
|
170 |
All |
45 Years and older (Adult, Senior) |
NCT01464710 |
080585 |
GALLEY2 |
April 2008 |
January 2015 |
January 2015 |
November 3, 2011 |
February 19, 2016 |
|
- University of California, San Diego
La Jolla, California, United States - California Retina Consultants
Santa Barbara, California, United States - Medical Center Ophthalmology Associates
San Antonio, Texas, United States
|
| 42 |
NCT02077361 |
Completed |
An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia |
|
- Genetic: rAAV2.REP1 vector
|
Interventional |
Phase 1
Phase 2 |
- Ian M. MacDonald
- Alberta Innovates Health Solutions
- Canada Foundation for Innovation
- (and 6 more...)
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of patients with ocular and systemic adverse events
- Changes in visual field
- Changes in visual function
|
6 |
Male |
18 Years and older (Adult, Senior) |
NCT02077361 |
Pro00028599
File # 9427-U0180-84C |
|
April 2015 |
August 30, 2017 |
August 30, 2017 |
March 4, 2014 |
November 7, 2017 |
|
- University of Alberta
Edmonton, Alberta, Canada
|
| 43 |
NCT02407678 |
Recruiting |
REP1 Gene Replacement Therapy for Choroideremia |
|
- Genetic: AAV-mediated REP1 gene replacement
|
Interventional |
Phase 2 |
- University of Oxford
- Moorfields Eye Hospital NHS Foundation Trust
- University College, London
|
Other |
- Allocation: Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change from baseline in best corrected visual acuity in the treated eye
- Change from baseline in the central visual field in the treated eye as determined by microperimetry
- Change from baseline in the area of surviving retinal pigment epithelium in the treated eye as measured by fundus autofluorescence, compared to the untreated fellow eye (control eye) after randomisation of treatment to one eye or the other
|
30 |
Male |
18 Years to 90 Years (Adult, Senior) |
NCT02407678 |
REGEN2015 |
REGENERATE |
August 2016 |
August 2019 |
August 2021 |
April 3, 2015 |
November 17, 2017 |
|
- Moorfields Eye Hospital NHS Foundation Trust
London, United Kingdom - Oxford University Hospitals NHS Foundation Trust
Oxford, United Kingdom
|
| 44 |
NCT00912470 |
Withdrawn |
Progressive Open Angle Glaucoma (OAG) and Ocular Blood Flow |
|
- Procedure: ocular blood flow measurement
|
Interventional |
Not Applicable |
- Medical University of Vienna
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
- Optic nerve head blood flow (scanning laser Doppler flowmetry, laser Doppler flowmetry).
|
0 |
All |
40 Years and older (Adult, Senior) |
NCT00912470 |
OPHT-020706 |
|
May 2007 |
November 2014 |
November 2014 |
June 3, 2009 |
November 21, 2014 |
|
- Department of Clinical Pharmacology
Vienna, Austria
|
| 45 |
NCT00379275 |
Completed |
Eye and Immunogenetic Features of Sarcoidosis |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
100 |
All |
6 Years and older (Child, Adult, Senior) |
NCT00379275 |
060239
06-EI-0239 |
|
September 18, 2006 |
|
December 10, 2007 |
September 21, 2006 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 46 |
NCT01213667 |
Active, not recruiting |
Genetics in Non-response to Anti-VEGF Treatment in Exudative AMD |
|
|
Interventional |
Phase 4 |
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Visual acuity
- Association between treatment response and genotype
- Changes in OCT central retinal thickness / retinal volume
- (and 2 more...)
|
110 |
All |
60 Years and older (Adult, Senior) |
NCT01213667 |
RESPONSE2010 |
RESPONSE |
January 2010 |
December 2017 |
December 2017 |
October 4, 2010 |
October 26, 2016 |
|
- University Center of Ophthalmology
Cologne, NRW, Germany
|
| 47 |
NCT00011817 |
Completed |
Evaluation and Treatment of Patients With Inherited Eye Diseases |
|
|
Observational |
|
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
300 |
All |
6 Months and older (Child, Adult, Senior) |
NCT00011817 |
010102
01-EI-0102 |
|
February 21, 2001 |
|
March 31, 2007 |
March 1, 2001 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 48 |
NCT01165697 |
Completed |
Establishment of Biomarkers for Fabry Disease |
|
- Other: Fluorescein angiography
|
Observational |
|
- Ohio State University
- Genzyme, a Sanofi Company
|
Other / Industry |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Presence of specific findings commonly associated with Fabry's disease using neuroretinal examination
- Capillary perfusion abnormalities in optic nerve and retina
|
4 |
All |
18 Years and older (Adult, Senior) |
NCT01165697 |
2009H0137 |
|
July 2010 |
July 2014 |
December 2014 |
July 20, 2010 |
January 13, 2017 |
|
- Eye and Ear Institute
Columbus, Ohio, United States
|
| 49 |
NCT01024803 |
Active, not recruiting |
Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients |
- Retinitis Pigmentosa
- Retinal Degeneration
|
- Device: Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
|
Interventional |
Not Applicable |
- Retina Implant AG
- Retina Implant AG
|
Industry |
- Allocation: Randomized
- Intervention Model: Single Group Assignment
- Masking: Single (Participant)
- Primary Purpose: Treatment
|
- Activities of daily living and mobility significantly improve with implant-ON shown via activities of daily living tasks, recognition tasks, mobility, or a combination thereof.
- Visual acuity/light-perception and/or object-recognition are significantly improved with implant-ON versus OFF as shown via: FrACT/BaLM/BaGA/VFQ-25 or a combination thereof.
- Patient long term safety and stability of implant function
|
39 |
All |
18 Years to 78 Years (Adult, Senior) |
NCT01024803 |
RI-MC-CT-2009 |
|
December 2009 |
April 2017 |
April 2018 |
December 3, 2009 |
September 28, 2017 |
|
- Helmut Sachs, MD, PD
Dresden, Germany - Johann Roider, MD, Prof.
Kiel, Germany - Karl-Ulrich Bartz-Schmidt, MD, Prof.
Tuebingen, Germany - (and 3 more...)
|
| 50 |
NCT02524405 |
Recruiting |
BEAM: Brain-Eye Amyloid Memory Study |
- Alzheimer's Disease
- Mild Cognitive Impairment
- Vascular Cognitive Impairment
- (and 2 more...)
|
- Other: Flutemetamol PET scan
|
Observational |
|
- Sunnybrook Health Sciences Centre
- Brain Canada
- Weston Brain Institute
- (and 6 more...)
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Retinal nerve fiber layer thickness
- Amyloid Depostition
- Retinal artery narrowing
- Retinal venular widening
|
320 |
All |
50 Years to 90 Years (Adult, Senior) |
NCT02524405 |
221-2013 |
BEAM |
February 2016 |
March 2019 |
September 2019 |
August 14, 2015 |
November 27, 2017 |
|
- Sunnybrook Health Sciences Centre
Toronto, Ontario, Canada - St. Michael's Hospital
Toronto, Ontario, Canada - University Health Network
Toronto, Ontario, Canada - (and 2 more...)
|
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