Clinical trials: Retinal Dystrophy
Stargardt Disease, Stargardt Macular Dystrophy
A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye.
- Conditions
- Stargardt Disease, Stargardt Macular Dystrophy, Stargardt-like Macular Dystrophy
- Trial name
- EVOLVE (NCT07425574)
- Testing
- No Intervention
- Where
- 15 sites in United States
- Volunteers
- 90 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Retinal Degeneration
Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis
The purpose of the study is to determine whether gene therapy is safe and effective for the treatment of severe childhood blindness caused by mutations in RPE65.
- Trial name
- NCT00643747
- Testing
- tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- University College, London
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a…
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy
- Trial name
- NCT06491615
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- National Eye Institute (NEI)
Apgar; 0-3 at 1 Minute, Metabolic Acidosis
Autologous Stem Cells in Newborns With Oxygen Deprivation
The purpose of this study is to determine whether the plasticity of autologous intravenous application of cord blood stem cells would improve the clinical course of asphyxiated newborns.
- Conditions
- Apgar; 0-3 at 1 Minute, Metabolic Acidosis, Hypoxia, Brain, Multiple Organ Failure
- Trial name
- NCT01506258
- Testing
- Application of Stem Cells, Observation
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Hospital Universitario Dr. Jose E. Gonzalez
Age-related Macular Degeneration, Stargardt Disease
Efficacy of Acupuncture in Macular Diseases
This is a single-arm study designed to assess the efficacy of acupuncture (Traditional Chinese Medicine) for chronic macular diseases of several types.
- Conditions
- Age-related Macular Degeneration, Stargardt Disease, Macular Dystrophy
- Trial name
- AMAD (NCT02255981)
- Testing
- Acupuncture and massage
- Where
- 2 sites in Colombia
- Volunteers
- 33 people
- Sponsor
- Escuela Neijing
Retinal Degenerations, Retinitis Pigmentosa (RP)
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
Inherited Retinal Diseases (IRDs) are a heterogeneous group of genetically based degenerative retinal disorders, representing a major cause of visual impairment and blindness in working-age adults.
- Conditions
- Retinal Degenerations, Retinitis Pigmentosa (RP), Stargardt Disease
- Trial name
- IRDs-OSR (NCT07265895)
- Testing
- No Intervention: Observational Cohort
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- IRCCS San Raffaele
Retinitis Pigmentosa
Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)
The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.
- Trial name
- NCT02926092
- Testing
- Observation
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Shire
Stargardt Disease, Stargardt Macular Degeneration
A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)
This Phase 1/2 study will evaluate the safety, tolerability, and preliminary efficacy of subretinal SB-007 administration to determine dose selection in subjects with Stargardt's Type 1 (STGD1).
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
- Trial name
- ASTRA (NCT06942572)
- Testing
- SB-007
- Where
- 5 sites in United States
- Volunteers
- 57 people
- Sponsor
- Splice Bio
Cord
MNCs for Bone Marrow Failure After Malignant Diseases Children Chemotherapy
This project aims to investigate the therapeutic and repair effects of cord blood mononuclear cells (MNCs) on bone marrow failure after chemotherapy in children with malignant diseases.
- Trial name
- NCT05628272
- Testing
- Intravenous infusion of cord blood mononuclear cells, application of granulocyte stimulating factor
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Qianfoshan Hospital
Usher Syndrome, Retinitis Pigmentosa
A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss.
- Conditions
- Usher Syndrome, Retinitis Pigmentosa, Congenital Hearing Impairment
- Trial name
- NCT00016471
- Testing
- Audiogram, Electroretinogram
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Retinitis Pigmentosa
Study of the Correlation Between Macular Thickness Analyzed by Optical Coherence Tomography and the Visual Functions in Retinitis Pigmemtosa
Purpose: To study the associations between visual functions and the retinal tomography detected by optical coherence tomography (OCT) in patients with retinitis pigmentosa (RP).
- Trial name
- NCT00784901
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Retinitis Pigmentosa Syndromic, Congenital Deafness
Natural History and Genetic Studies of Usher Syndrome
This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems.
- Conditions
- Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome, Retinitis Pigmentosa and Deafness
- Trial name
- NCT00106743
- Where
- 2 sites in United States
- Volunteers
- 249 people
- Sponsor
- National Eye Institute (NEI)
Usher Syndrome
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
This study aims to characterize Usher patients in order to correlate this data with genetic information. Tasks: Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and…
- Trial name
- EURUSH (NCT01954953)
- Where
- 6 sites in France, Germany and 2 more
- Volunteers
- 100 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Leber Congenital Amaurosis
Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
A clinical trial of AAV2/5 vector for patients with Defects in RPE65
- Trial name
- OPTIRPE65 (NCT02781480)
- Testing
- AAV RPE65
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 15 people
- Sponsor
- MeiraGTx UK II Ltd
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Retinitis Pigmentosa (RP)
Prospective, Randomized, Sham-controlled, Dose-finding I/II Trial of Safety and Efficacy of Modified Optogenetic Gene Therapy (ZM-02 Injection)
This is a Phase 1/2, multi-center, randomized, sham-controlled, dose-escalation study evaluating ZM-02 in patients with advanced retinitis pigmentosa (RP).
- Trial name
- PRISM (NCT07282457)
- Testing
- ZM-02 (low dose), ZM-02 (high dose), ZM-02 (selected dose)
- Volunteers
- 21 people
- Sponsor
- Zhongmou Therapeutics
Stargardt Disease
Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease
The purpose of the study is to evaluate the safety and effects of a single intravitreal injection of virally-carried Multi-Characteristic Opsin (vMCO-010) in Subjects with Stargardt Disease
- Trial name
- STARLIGHT (NCT05417126)
- Testing
- Gene Therapy-vMCO-010
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Nanoscope Therapeutics Inc.
Retinal Degeneration, Retinitis Pigmentosa
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
- Trial name
- RUSH1F (NCT04765345)
- Where
- 10 sites in United States, Canada and 6 more
- Volunteers
- 44 people
- Sponsor
- Jaeb Center for Health Research
Leber Congenital Amaurosis
Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65…
- Trial name
- RPE65 (NCT01496040)
- Testing
- rAAV2/4.hRPE65
- Where
- France
- Volunteers
- 9 people
- Sponsor
- Nantes University Hospital
Leber Congenital Amaurosis
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
The main objectives of this study are: 1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families. 2.
- Trial name
- GENPHENACL (NCT02970266)
- Where
- France
- Volunteers
- 659 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris