Clinical trials: Congenital Blindness
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
Visual Deficiency, Congenital Blindness
VISIODOL: Validation of the VISIODOL® Scale
The aim of this study is to validate the VISIODOL® scale for screening of pain in people with visual impairment.
- Conditions
- Visual Deficiency, Congenital Blindness, Acquired Blindness
- Trial name
- VISIODOL (NCT03968991)
- Testing
- VISIODOL® (Diagnostic tool)
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- University Hospital, Clermont-Ferrand
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
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)
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
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
Type 1 Diabetes, Diabetes Insipidus
Tracking Neurodegeneration in Early Wolfram Syndrome
The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive…
- Conditions
- Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
- Trial name
- TRACK (NCT02455414)
- Where
- United States
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
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)
Age Related Macular Degeneration, Retinitis Pigmentosa
Visual Activity Evoked by Infrared in Humans After Dark Adaptation
This pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive to in healthy and color-blind…
- Conditions
- Age Related Macular Degeneration, Retinitis Pigmentosa, Congenital Stationary Night Blindness, Colorblindness
- Trial name
- NCT02909985
- Testing
- Tungsten halogen light with narrow bandpass filters
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
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
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
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Usher Syndrome Type 3
BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
First-in-Human Phase-1 Clinical Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Food Effect of Single and Multiple Ascending Doses of BF844 when Administered Orally to Healthy Adult Participants.
- Trial name
- NCT06592131
- Testing
- BF844
- Where
- Australia
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- EyeXCel Pty. Ltd.
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
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
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
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