Clinical trials: Leber Congenital Amaurosis
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 2, Retinitis Pigmentosa 20
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene.
- Trial name
- RPE65-NHS (NCT04525261)
- Where
- 9 sites in Italy
- Volunteers
- 60 people
- Sponsor
- University of Campania Luigi Vanvitelli
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 (LCA), Eye Diseases
Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
This study is a longer-term follow-up study for patients who have been administered AAV2/5-OPTIRPE65 in the Phase I/II, open label, non-randomised, two-centre, dose escalation trial in adults and children with retinal dystrophy…
- Conditions
- Leber Congenital Amaurosis (LCA), Eye Diseases, Eye Diseases, Hereditary, Retinal Diseases
- Trial name
- NCT02946879
- Testing
- AAV OPTIRPE65
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 15 people
- Sponsor
- MeiraGTx UK II 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
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.
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Amaurosis, Retinal Diseases
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene.
- Trial name
- NCT00422721
- Testing
- realization of a family tree, refractometry, evaluation of the presence of a nystagmus
- Where
- France
- Volunteers
- 360 people
- Sponsor
- Nantes University Hospital
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
Leber Congenital Amaurosis, Inherited Retinal Diseases Caused by RPE65 Mutations
Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
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 mutations in RPE65 gene.
- Trial name
- NCT05906953
- Testing
- HG004
- Where
- 3 sites in United States, China
- Volunteers
- 20 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)
The purpose of this study is: To evaluate the safety of up to 3 additional courses of oral QLT091001 administered once daily for 7 days in subjects treated previously with a single 7-day course of QLT091001 in Study RET IRD 01 To…
- Trial name
- NCT01521793
- Testing
- QLT091001
- Where
- 6 sites in United States, Canada and 3 more
- Volunteers
- 27 people
- Sponsor
- QLT 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
Leber Congenital Amaurosis (LCA)
Psychotherapy Group for Parents of Children With LCA
The objectives of this study are to evaluate the effect of a group psychotherapy intervention for parents of children/adolescents with LCA on indicators of emotional health, parental stress, acceptance, cognitive defusion, and…
- Trial name
- NCT07026565
- Testing
- Psychotherapy group for parents, Control Group
- Where
- Brazil
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Instituto de Genética Ocular
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.
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