Clinical trials: Congenital Blindness
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
Usher Syndrome
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Retinopathy of Prematurity, Retinal Detachment
Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity
The purpose of this study is to test whether ACULAR, a nonsteroidal anti-inflammatory eye drop medication, can prevent the development of retinopathy of prematurity (ROP) and/ or decrease its severity.In this study ACULAR will be…
- Conditions
- Retinopathy of Prematurity, Retinal Detachment, Blindness
- Trial name
- ROP (NCT00634972)
- Testing
- ACULAR, REFRESH TEARS
- Where
- United States
- Volunteers
- 83 people, healthy volunteers welcome
- Sponsor
- University of South Alabama
Retinitis Pigmentosa, Usher Syndrome Type 2
An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
PQ-421a-002 (Helia) is an open-label, extension study to evaluate the safety, tolerability and efficacy of QR 421a (ultevursen) administered via intravitreal (IVT) injection in one or both eyes, in subjects ≥ 12 years of age with…
- Trial name
- HELIA (NCT05085964)
- Testing
- RNA antisense oligonucleotide for intravitreal injection
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Laboratoires Thea
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
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
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
Wolfram Syndrome
Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome
Open label, phase II study non randomized single group assignment of 20 evaluable patients 13 years and older, over 37,5 kg body-weight, with sensorineural hearing loss of at least 20 dB at 8 kHz in high frequency average (HFA)…
- Trial name
- AUDIOWOLF (NCT04940572)
- Testing
- Depakine
- Where
- 2 sites in France, Spain
- Volunteers
- 23 people
- Sponsor
- Centre d'Etude des Cellules Souches
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
Retinal Degeneration, Age-Related Macular Degeneration
Adaptive Optics Imaging of Outer Retinal Diseases
The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement…
- Conditions
- Retinal Degeneration, Age-Related Macular Degeneration, Retinitis Pigmentosa, Hydroxychloroquine Retinopathy
- Trial name
- NCT05355415
- Testing
- Adaptive optics imaging
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- Food and Drug Administration (FDA)
Retinitis Pigmentosa
Oral N-acetylcysteine for Retinitis Pigmentosa
Retinitis pigmentosa (RP) is an inherited retinal degeneration caused by one of several mistakes in the genetic code. Such mistakes are called mutations.
- Trial name
- NAC Attack (NCT05537220)
- Testing
- N-acetylcysteine
- Where
- 31 sites in United States, Austria and 5 more
- Volunteers
- 485 people
- Sponsor
- Johns Hopkins University
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.
Septo-Optic Dysplasia, Agenesis of Corpus Callosum
Sleep Profile of Patients With Septo-optic Dysplasia
The aim of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and…
- Conditions
- Septo-Optic Dysplasia, Agenesis of Corpus Callosum, Blindness
- Trial name
- NCT06262152
- Testing
- Actigraphy, blood and salivary sample, and sleep evaluation
- Where
- Italy
- Volunteers
- 45 people
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
Autosomal Dominant Retinitis Pigmentosa, Eye Diseases
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies
- Trial name
- AURORA (NCT04123626)
- Testing
- QR-1123
- Where
- 5 sites in United States
- Volunteers
- 11 people
- Sponsor
- ProQR Therapeutics
Deafness, Blindness
Workshops for Veterans With Vision and Hearing Loss
This is a pilot study of workshops to help Veterans with both vision and hearing loss live a happier, fuller and less stressful life. The results will be used to guide the development of a large scale clinical trial.
- Trial name
- DSLW (NCT01109576)
- Testing
- DSL Workshop
- Where
- 2 sites in United States
- Volunteers
- 13 people
- Sponsor
- US Department of Veterans Affairs
Infant, Newborn, Infant, Low Birth Weight
Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity
The purpose of this trial was to determine the efficacy and safety of supplemental therapeutic oxygen for infants with prethreshold retinopathy of prematurity (ROP) to reduce the probability of progression to threshold ROP and…
- Conditions
- Infant, Newborn, Infant, Low Birth Weight, Infant, Small for Gestational Age, Infant, Premature
- Trial name
- STOP-ROP (NCT01203436)
- Testing
- Supplemental Oxygen Management, Conventional Oxygen Management
- Where
- 9 sites in United States
- Volunteers
- 649 people
- Sponsor
- NICHD Neonatal Research Network
Increased Lordosis/Scoliosis, Hyporeflexia
Biomarker for Duchenne Muscular Dystrophy
International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.
- Conditions
- Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy, Red-Green Color Blindness
- Trial name
- BioDuchenne (NCT02994030)
- Where
- 12 sites in Albania, Egypt and 6 more
- Volunteers
- 103 people
- Sponsor
- CENTOGENE GmbH Rostock
Wolfram Syndrome
Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome
This trial aims to investigate the efficacy, safety and tolerability of sodium valproate in the treatment of patients with Wolfram syndrome.
- Trial name
- NCT03717909
- Testing
- Sodium Valproate 200Mg E/C Tablet
- Where
- 6 sites in France, Poland and 2 more
- Volunteers
- 63 people
- Sponsor
- University of Birmingham
Hemianopia, Hemianopsia
Collision Warning Device for Blind and Visually Impaired
This study evaluates a novel collision warning device to help people with severe vision impairment or blindness avoid collisions with obstacles.
- Conditions
- Hemianopia, Hemianopsia, Peripheral Visual Field Defect, Blindness
- Trial name
- NCT03057496
- Testing
- Collision warning device
- Where
- United States
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Retinitis Pigmentosa, Retinal Degeneration
Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients
Patients suffering from hereditary retinal degeneration receive a retinal implant to restore sight. Subretinal implant "ON" results in significant visual acuity improvement, when compared to "OFF" condition.
- Trial name
- NCT01024803
- Testing
- Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
- Where
- 6 sites in Germany, Hungary and 1 more
- Volunteers
- 39 people
- Sponsor
- Retina Implant AG