Clinical trials: Congenital Blindness
Retinal Degeneration, Retinitis Pigmentosa
Molecular Genetics of Retinal Degenerations
This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal…
- Trial name
- NCT00231010
- Where
- 6 sites in United States, China and 2 more
- Volunteers
- 3,549 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- LUNA (NCT06627179)
- Testing
- Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Wolfram Syndrome
AMX0035 in Adult Patients With Wolfram Syndrome
This study is an open label Phase II study to evaluate the safety and efficacy of AMX0035 in adults with Wolfram syndrome.
- Trial name
- NCT05676034
- Testing
- AMX0035
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Amylyx Pharmaceuticals Inc.
Neurocognitive Disorders, Post Operative Delirium
Safe Brain Initiative, Operationalizing Precision Anaesthesia
Perioperatively, patients experience an unnecessarily high level of side effects associated with their treatment. These side effects include nausea, severe pain, anxiety, and stress.
- Conditions
- Neurocognitive Disorders, Post Operative Delirium, Pain, Nausea
- Trial name
- SBI (NCT05765162)
- Testing
- Patient reported ourcomes
- Where
- Denmark
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- University of Southern Denmark
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
Wolfram Syndrome, Diabetes Mellitus
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type…
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness
- Trial name
- NCT02841553
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Washington 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
Wolfram Syndrome, Diabetes Mellitus
A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration.
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Ataxia
- Trial name
- NCT02829268
- Testing
- dantrolene sodium
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Washington University School of Medicine
Retinitis Pigmentosa, Usher Syndrome Type 2
Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
This clinical trial is a single-site, 30 patient study for participants who have early stage retinitis pigmentosa, or Usher syndrome (type 2 or 3). Funding Source - FDA OOPD and Foundation Fighting Blindness.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
- Trial name
- NCT01530659
- Testing
- NT-501
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Neurotech Pharmaceuticals
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
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
Spinal Cord Injury
A Safety Study for Cethrin (BA-210) in the Treatment of Acute Thoracic and Cervical Spinal Cord Injuries
This trial is a multi-center, open-label, dose-escalation study designed to evaluate the safety, tolerability and pharmacokinetics of Cethrin in two types of spinal cord injury patients: those with a complete cervical injury or a…
- Trial name
- NCT00500812
- Testing
- Cethrin
- Where
- 8 sites in United States, Canada
- Volunteers
- 48 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Wolfram Syndrome 1, Optic Atrophies, Hereditary
Does Recessive Optic Atrophy Due to WFS1 Exist?
All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study.
- Trial name
- NCT07336966
- Testing
- analyse study
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
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 Cord Injury
Cethrin in Acute Cervical Spinal Cord Injury
This is a multicenter, randomized, double-blind, placebo-controlled Phase IIb/III study designed to evaluate the efficacy and safety of Cethrin as a treatment for acute cervical spinal cord injury.
- Trial name
- NCT02053883
- Testing
- Cethrin (BA-210)
- Sponsor
- BioAxone BioSciences, Inc.
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.
Usher Syndrome, Cochlear Implantation
Auditory Neural Function in Implanted Patients With Usher Syndrome
Usher syndrome (USH) causes extensive degeneration in the cochlear nerve (CN), especially in CN fibers innervating the base of the cochlea.
- Trial name
- NCT04906135
- Testing
- Experimental manipulation of stimulation parameters
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Ohio State University
ROP, Jaundice, Neonatal
Hyperbilirubinemia and Retinopathy of Prematurity in Preterm Infants: a Retrospective Study.
The goal of this retrospective observational study is to [learn about the correlation between hyperbilirubinemia and retinopathy of prematurity in preterm infants.
- Conditions
- ROP, Jaundice, Neonatal, Premature, Very Low Birth Weight Infant
- Trial name
- biliROP (NCT05806684)
- Testing
- ROP
- Where
- Italy
- Volunteers
- 1,586 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Wolfram Syndrome
I-Tracking Neurodegeneration in Early Wolfram Syndrome
Wolfram syndrome (WFS; OMIM #222300) is a rare autosomal recessive disease clinically defined in 1938 as the combination of childhood-onset insulin dependent diabetes, optic nerve atrophy, diabetes insipidus and deafness.
- Trial name
- I-TRACK (NCT03951298)
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Washington University School of Medicine
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.