Clinical trials: Hereditary Eye Disease
Angelman Syndrome
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide.
- Trial name
- EYEANGEL (NCT06737718)
- Testing
- Eye tracking, Data collection from patients' medical files, questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Tinnitus
Tinnitus Treatment by Structured Cognitive Behavioral Therapy
Test of hypothesis that in contrast to non-treatment tinnitus specific cognitive behavioral therapy intervention procedures that are manualized and structured within the disease management program TCP are effective.
- Trial name
- TCP (NCT00719940)
- Testing
- Cognitive behavioral therapy, Waiting group
- Where
- 4 sites in Germany
- Volunteers
- 286 people
- Sponsor
- University Hospital Tuebingen
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Retinoblastoma
Carboplatin Plus Vincristine in Treating Children With Retinoblastoma
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining more than one drug may kill more tumor cells.
- Trial name
- NCT00002794
- Testing
- carboplatin, vincristine sulfate
- Where
- 2 sites in United States
- Volunteers
- 25 people
- Sponsor
- St. Jude Children's Research Hospital
Bardet-Biedl Syndrome, Visual Impairment
Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
In this prospective pilot study without control group children and young adults (10-25 years old) diagnosed with Bardet-Biedl syndrome and treated with Metformin for their adipositas will be evaluated for a possible additional…
- Trial name
- BBS (NCT03490019)
- Testing
- Metformin
- Sponsor
- University Hospital Tuebingen
Neuroblastoma, Brain Tumor
Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation
The purpose of this study is to investigate whether the prophylactic use of itraconazole is a better option than empirical use of itraconazole in the management (prevention and treatment) of fungal infection associated with…
- Conditions
- Neuroblastoma, Brain Tumor, Retinoblastoma, Wilms Tumor
- Trial name
- NCT00336531
- Testing
- itraconazole
- Where
- South Korea
- Volunteers
- 100 people
- Sponsor
- Samsung Medical Center
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 Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Retinoblastoma
PCI Imaging System in Pediatric Ophthalmology
The purpose of this study is to compare the RetCam (Clarity Medical Systems, Pleasanton, CA) to a new prototype pediatric imaging system, COSMOS, produced by Phoenix Clinical Incorporated (PCI) (Pleasanton, CA).
- Trial name
- NCT02617862
- Testing
- Examination under anaesthetic (EUA), RetCam, COSMOS
- Where
- Canada
- Volunteers
- 6 people
- Sponsor
- Brenda Gallie
Retinopathy of Prematurity
The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP)
To evaluate the effect of ambient light reduction on the incidence of retinopathy of prematurity (ROP).
- Trial name
- NCT00000156
- Testing
- Goggles, Ambient Light Reduction
- Where
- 3 sites in United States
- Sponsor
- National Eye Institute (NEI)
Autism Spectrum Disorders
Social Interactions: Ocular Explorations and Pupillometry in Autism
The primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to…
- Trial name
- ISEOP (NCT01647295)
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Neuro-Ophthalmology, Optic Neuropathies
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
OCT-A and eco-colordoppler are technologies which enable optic nerve head (ONH) blood perfusion detection. The aim of the study is to assess ONH vascular and structural components in optic neuropathies with and without ONH edema…
- Conditions
- Neuro-Ophthalmology, Optic Neuropathies, Optic Atrophy, Hereditary, Leber, Optic Neuropathy, Anterior Ischemic
- Trial name
- FlowONH (NCT07075887)
- Volunteers
- 70 people
- Sponsor
- Barboni
Cataract, Glaucoma
Potential Research Participants for Future Studies of Inherited Eye Diseases
This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases.
- Conditions
- Cataract, Glaucoma, Retinitis Pigmentosa, Macular Degeneration
- Trial name
- NCT00559234
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Eye Institute (NEI)
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder.
- Trial name
- NCT00078091
- Where
- United States
- Volunteers
- 194 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Community Adolescents at Risk for Depression and Suicide
Application and Evaluation of Group Cognitive Intervention for Depressed Adolescents
Cognitive behavioral therapy (CBT) is effective and CBT with parental involvement has potential in preventing and treating adolescent depression.
- Trial name
- NCT00946413
- Testing
- CBT plus parent education, CBT alone
- Where
- Taiwan
- Volunteers
- 31 people
- Sponsor
- Taipei Medical University Hospital
Childhood Glaucoma
Efficacy and Safety of Topically Applied Medical Therapy for the Treatment of Pediatric Glaucoma
Objectives: The study will assess the ocular hypotensive effect of latanoprost and dorzolamide in a selected sample of patients affected by primary Pediatric Glaucoma (PG), refractory to surgical procedures.
- Trial name
- NCT01527682
- Testing
- Latanoprost, Dorzolamide
- Where
- 2 sites in Italy
- Volunteers
- 37 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia