Clinical trials: Hereditary Retinal Dystrophy
Eye Diseases, Retinitis Pigmentosa
Safety of Cultured Allogeneic Adult Umbilical Cord or Placental Derived Mesenchymal Stem Cell Exosomes for NAION
This trial will study the safety and efficacy of intranasal delivery of cultured allogeneic adult umbilical cord or placental derived mesenchymal stem cell exosomes for the treatment of non-arteritic ischemic optic neuropathy
- Conditions
- Eye Diseases, Retinitis Pigmentosa, Diabetic Retinopathy, Macular Degeneration
- Trial name
- NCT05147701
- Testing
- cultured allogeneic adult umbilical cord or placental derived mesenchymal stem cell exosomes
- Where
- 2 sites in United States, Greece
- Volunteers
- 20 people
- Sponsor
- The Foundation for Orthopaedics and Regenerative Medicine
Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy
A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant…
- Trial name
- NCT03597399
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 10 sites in United States
- Volunteers
- 87 people
- Sponsor
- Spark Therapeutics, Inc.
Retinitis Pigmentosa, Leber Congenital Amaurosis
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101).
- Trial name
- NCT05203939
- Testing
- OCU400 Low Dose, OCU400 Med Dose, OCU400 High Dose
- Where
- 7 sites in United States
- Volunteers
- 22 people
- Sponsor
- Ocugen
Retinitis Pigmentosa
Autoimmunity in Retinitis Pigmentosa
Using local immune suppression, the trial seeks evidence for the hypothesis that autoimmunity plays a role in the pathomechanism of retinitis pigmentosa.
- Trial name
- NCT00433277
- Testing
- twice-daily dosage with 0.5% cyclosporine-A eyedrops
- Where
- Hungary
- Sponsor
- Semmelweis University
Retinitis Pigmentosa
Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics.
- Trial name
- RP-SEQ-HD (NCT02860520)
- Where
- 4 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Retinitis Pigmentosa
Retrospective NIS to Evaluate the Patient Benefit of TES
In this retrospective non-interventional study (NIS), the subjective and objective benefit of patients with retinitis pigmentosa (and other dystrophies like Usher, Choroideremia or cone-rod dystrophy), who have been prescribed…
- Trial name
- NCT04983914
- Testing
- Transcorneal Electrostimulation via OkuStim System
- Where
- 4 sites in Germany, Switzerland
- Volunteers
- 49 people
- Sponsor
- Okuvision GmbH
Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
To develop comprehensive genetic maps of inherited retinal diseases in Korean Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype…
- Trial name
- NCT03613948
- Where
- South Korea
- Volunteers
- 280 people
- Sponsor
- Gangnam Severance Hospital
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations
The purpose of this study is: to evaluate the safety of oral QLT091001 to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations to evaluate…
- Trial name
- NCT01014052
- Testing
- QLT091001
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 32 people
- Sponsor
- QLT Inc.
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
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
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
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)
Retinitis Pigmentosa 11, Retinal Degeneration
MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
A Phase 1 Open-Label, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of Intravitreally Administered VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy
- Conditions
- Retinitis Pigmentosa 11, Retinal Degeneration, Eye Diseases, Retinal Disease
- Trial name
- NCT06455826
- Testing
- VP-001
- Where
- 5 sites in United States
- Volunteers
- 6 people
- Sponsor
- PYC Therapeutics
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.
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
Retinitis Pigmentosa
A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
The purpose of the study is to assess the safety and tolerability of bilateral subretinal delivery of adeno-associated virus vector with a serotype 5 capsid human rhodopsin kinase promoter.
- Trial name
- NCT05926583
- Testing
- AAV5-hRKp.RPGR
- Where
- Japan
- Volunteers
- 4 people
- Sponsor
- MeiraGTx Ocular UK Ltd
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
Spinal Cord Injury, Spinal Cord Involvement
Clinical Trial of a Serious Game for Individuals With SCI/D
This study will evaluate the efficacy of a newly developed serious game, SCI HARD, to enhance self-management skills, self-reported health behaviors, and quality of life among adolescents and young adults with spinal cord injury…
- Conditions
- Spinal Cord Injury, Spinal Cord Involvement, Spina Bifida, Transverse Myelitis
- Trial name
- NCT02341950
- Testing
- SCI Hard
- Where
- United States
- Volunteers
- 184 people
- Sponsor
- University of Michigan
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
Stargardts, Retinitis Pigmentosa
High Resolution Retinal Imaging
Studying the morphology and function of the normal and diseased retina in vivo is needed for advancing the detection, diagnosis, and treatment of retinal disease.
- Conditions
- Stargardts, Retinitis Pigmentosa, Age-related Macular Degeneration, Choroideremia
- Trial name
- AOSLO (NCT01866371)
- Testing
- Retinal imaging
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania