Clinical trials: Retinitis Pigmentosa
Bardet-Biedl Syndrome, Visual Impairment
Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
In this prospective pilot study without control group children and young adults (10-25 years old) diagnosed with Bardet-Biedl syndrome and treated with Metformin for their adipositas will be evaluated for a possible additional…
- Trial name
- BBS (NCT03490019)
- Testing
- Metformin
- Sponsor
- University Hospital Tuebingen
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Cataract, Glaucoma
Potential Research Participants for Future Studies of Inherited Eye Diseases
This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases.
- Conditions
- Cataract, Glaucoma, Retinitis Pigmentosa, Macular Degeneration
- Trial name
- NCT00559234
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Eye Institute (NEI)
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder.
- Trial name
- NCT00078091
- Where
- United States
- Volunteers
- 194 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
X-Linked Retinitis Pigmentosa
Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- HORIZON (NCT03316560)
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Beacon Therapeutics
Retinitis Pigmentosa
The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa
The aim of this study is to determine whether 9-cis-beta Caroten rich D. Brdawiil extract is effective in the treatment of retinitis pigmentosa in adolescent patients.
- Trial name
- NCT02018692
- Testing
- Alga Dunaliella Bardawil powder
- Where
- Israel
- Volunteers
- 30 people
- Sponsor
- Sheba Medical Center
Abetalipoproteinemia
Vitamin Replacement in Abetalipoproteinemia
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients.
- Trial name
- NCT00004574
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Retinitis Pigmentosa
Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
Background: Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally.
- Trial name
- NCT03845218
- Where
- United States
- Volunteers
- 49 people
- Sponsor
- National Eye Institute (NEI)
Usher Syndrome, Type 2A, Retinitis Pigmentosa
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness.
- Conditions
- Usher Syndrome, Type 2A, Retinitis Pigmentosa, USH2A
- Trial name
- CRUSH (NCT04820244)
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 36 people
- Sponsor
- Radboud University Medical Center
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
This Phase 2 study is a non-randomized, open-label, study of the safety of AGTC-501 in participants with XLRP who have previously been treated with a full-length AAV vector-based gene therapy targeting RPGR protein.
- Trial name
- NCT06275620
- Testing
- AGTC-501 (high dose and standard corticosteroid regimen), AGTC-501 (low dose and standard corticosteroid regimen), AGTC-501 (high dose and modified corticosteroid regimen)
- Where
- 7 sites in United States
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
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.
X-Linked Retinitis Pigmentosa
Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) - Retinitis Pigmentosa GTPase Regulator (RPGR)
Phase 1 of the study is a dose escalation of the subretinal administration of AAV5-hRKp.RPGR vector to assess the safety of this vector in participants with XLRP caused by mutations in RPGR.
- Trial name
- NCT03252847
- Testing
- AAV5-RPGR
- Where
- 5 sites in United States, United Kingdom
- Volunteers
- 49 people
- Sponsor
- MeiraGTx UK II Ltd
Usher Syndromes
Natural History Study of Usher Syndrome ( Light4Deaf )
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the…
- Trial name
- Light4Deaf (NCT04665726)
- Where
- 4 sites in France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
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.
Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa (RP)
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
- Trial name
- NCT02575430
- Testing
- No treatment: retrospective chart review
- Where
- 9 sites in United States, Canada and 5 more
- Volunteers
- 59 people
- Sponsor
- QLT Inc.
X-Linked Retinitis Pigmentosa
Long-term Follow-up Gene Therapy Study for RPGR- XLRP
This is a long-term follow-up study assessing safety of patients for up to 60 months following advanced therapy investigational medicinal product (ATIMP) AAV5-hRKp.RPGR vector in participants with XLRP caused by mutations in RPGR.
- Trial name
- NCT04312672
- Testing
- AAV5-hRKp.RPGR
- Where
- 5 sites in United States, United Kingdom
- Volunteers
- 42 people
- Sponsor
- MeiraGTx Ocular UK Ltd
Retinal Degeneration, Retinitis Pigmentosa
Rod and Cone Mediated Function in Retinal Disease
Background: Retinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Stargardt's Disease
- Trial name
- NCT02617966
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Retinitis Pigmentosa, Eye Diseases
Natural History Study of Patients With EYS-Associated RP
This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories will accelerate the development of outcome measures for clinical trials.
- Trial name
- RUS_EYS (NCT07228793)
- Testing
- Whole exome/genome sequencing
- Where
- Russia
- Volunteers
- 45 people
- Sponsor
- Sensor Technology for Deafblind