Clinical trials: Congenital Blindness
Night Blindness
Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene
To assess the effect of oral administration of the alga Dunaliella bardawil containing approximately 50% all-trans beta-carotene and 50% 9-cis beta-carotene isomers on visual functions patients with Congenital Stationary Night…
- Trial name
- NCT00569023
- Testing
- alga Dunaliella bardawil
- Where
- Israel
- Volunteers
- 7 people
- Sponsor
- Sheba Medical Center
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
Usher Syndromes
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
This study will examine the safety and efficacy of NPI-001 Tablets as compared to placebo for 24 months in subjects with vision loss due to RP associated with Usher syndrome.
- Trial name
- SLO RP (NCT04355689)
- Testing
- NPI-001
- Where
- 4 sites in Australia
- Volunteers
- 49 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Diabetes Mellitus, Type 1, Monogenic Diabetes
Monogenic Diabetes Misdiagnosed as Type 1
The study has two aims: 1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. 2.
- Conditions
- Diabetes Mellitus, Type 1, Monogenic Diabetes, Neonatal Diabetes, Maturity-onset Diabetes in the Young (MODY)
- Trial name
- ADDAM (NCT03988764)
- Testing
- None AHT
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
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.
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.
Blindness Congenital
Comparison of Balance and Coordination Parameters of Visually Impaired and Healthy Individuals
The aim of this [observational study] is to examine balance in multiple aspects by comparing balance, coordination, and gait parameters between congenitally blind individuals and healthy individuals with multiple scales.
- Trial name
- NCT06687915
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Myopia-Night Blindness
Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality
Reduced quality of vision and glare in twilight or night are frequently mentioned complaints within the optometric examination. A reason for these problems could be a myopic refractive shift in dark light conditions, commonly…
- Trial name
- NCT02965534
- Testing
- Spectacle/Glasses
- Where
- 3 sites in Germany
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Applied Sciences Jena
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
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
Retinitis Pigmentosa (RP), Usher Syndrome
A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
The goal of this clinical trial is to learn if NPI-001 works to prevent progression of retinitis pigmentosa in adults diagnosed with Usher syndrome. It will also provide information about the safety of NPI-001.
- Trial name
- SLORP Preserve (NCT07710196)
- Testing
- NPI-001
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
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.
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)
Hearing Disorder
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Ischemic Optic Neuropathy, Branch Retinal Artery Occlusion
New Non-invasive Modalities for Assessing Retinal Structure and Function
This study investigates a new technology to assess the structure and function inside the eye. Retinal imaging of subjects with inner and outer retinal defects to detect areas of abnormal structure and function compared to other…
- Conditions
- Ischemic Optic Neuropathy, Branch Retinal Artery Occlusion, Hemianopia, Leber Hereditary Optic Neuropathy
- Trial name
- NCT03475173
- Testing
- LSFG-NAVI
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Randy Kardon
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
Retinitis Pigmentosa Syndromic, Congenital Deafness
Natural History and Genetic Studies of Usher Syndrome
This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems.
- Conditions
- Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome, Retinitis Pigmentosa and Deafness
- Trial name
- NCT00106743
- Where
- 2 sites in United States
- Volunteers
- 249 people
- Sponsor
- National Eye Institute (NEI)
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
Wolfram Syndrome
Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1
Wolfram syndrome (WFS:OMIM 222300) is a group of inherited disorders that usually appear in childhood and cause diabetes, optic atrophy leading to loss of vision, deafness and often diabetes insipidus.
- Trial name
- NCT05659368
- Testing
- Tirzepatide
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Ospedale San Raffaele