Clinical trials: Leber Congenital Amaurosis
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
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
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.
Leber Congenital Amaurosis
Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
The study is a follow-on to a Phase 1 dose-escalation and safety study.
- Trial name
- NCT01208389
- Testing
- voretigene neparvovec-rzyl
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Spark Therapeutics, Inc.
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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.
Leber Congenital Amaurosis
Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis
The purpose of the study is to evaluate the safety and efficacy of an adeno-associated virus vector expressing RPE65 in patients with Leber congenital amaurosis caused by mutations in the RPE65 gene. Funding Source - FDA OOPD
- Trial name
- NCT00749957
- Testing
- rAAV2-CB-hRPE65
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Beacon Therapeutics
Leber Congenital Amaurosis 10, Blindness
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
PQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- BRIGHTEN (NCT04855045)
- Testing
- sepofarsen
- Where
- 9 sites in Belgium, Brazil and 5 more
- Volunteers
- 15 people
- Sponsor
- ProQR Therapeutics
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 10, Blindness
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- ILLUMINATE (NCT03913143)
- Testing
- sepofarsen
- Where
- 14 sites in United States, Belgium and 7 more
- Volunteers
- 36 people
- Sponsor
- ProQR Therapeutics
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
This study is an early-stage clinical trial (Phase 1b/2a) testing a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare genetic eye disease that leads to…
- Trial name
- RDH12 (NCT07681778)
- Testing
- OPGx-RDH12
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Opus Genetics, Inc
Leber Congenital Amaurosis
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutationsin RPE65 gene.
- Trial name
- NCT06088992
- Testing
- HG004
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
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
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.
To Evaluate the Scaling Clinical Study of AAV2-RPE65 Gene Therapy Agent (LX101) in Patients With Congenital Amaurosis (LCA)
An Expanded Clinical Study Evaluating the AAV2-RPE65 Gene Therapy(LX101) in Patients With LCA
To evaluate the scaling clinical trail of AAV2-RPE65 gene therapy agent (LX101) in patients with congenital amaurosis (LCA).
- Trial name
- NCT06024057
- Testing
- LX101
- Volunteers
- 3 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Inherited Retinal Dystrophy Due to RPE65 Mutations
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject.
- Trial name
- NCT03602820
- Testing
- AAV2-hRPE65v2
- Volunteers
- 41 people
- Sponsor
- Genentech, Inc.
Leber Congenital Amaurosis
Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
The purpose of this clinical trial is to examine the safety of gene therapy for Lebers Congenital Amaurosis (LCA) caused by RPE65 mutations using a recombinant adeno-associated virus serotype 2 (rAAV2) vector carrying the human…
- Trial name
- NCT00821340
- Testing
- rAAV2-hRPE65
- Where
- Israel
- Volunteers
- 3 people
- Sponsor
- Hadassah Medical Organization
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Blindness, Leber Congenital Amaurosis 10
Natural History Study of CEP290-Related Retinal Degeneration
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related…
- Conditions
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases
- Trial name
- NCT03396042
- Where
- 7 sites in United States, France and 2 more
- Volunteers
- 26 people
- Sponsor
- Editas Medicine, Inc.