Clinical trials: Inherited Ophthalmic Diseases
Breastfeeding, Retinopaty of Prematurity
The Effect of Breast Milk on Pain and Stress
This study aimed to examine the effect of breast milk on pain and stress during Retinopathy of Prematurity (ROP) examinations. This randomized controlled experimental study was conducted with premature infants (N = 154)…
- Conditions
- Breastfeeding, Retinopaty of Prematurity, Pain, Stress
- Trial name
- NCT07127679
- Testing
- Two minutes before the ROP examination, 2 mL of freshly expressed breast milk was administered to infants in the experimental group using a syringe, placing the milk on the front of the tongue. As par
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people
- Sponsor
- Ege University
LCAT Deficiency
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
The purpose of the LCAT (Lecithin cholesterol acyl transferase) Natural History Study (LCAT NHS) is to help identify people with a mutation in a gene called LCAT, collect and store information about their medical history and…
- Trial name
- LCAT NHS (NCT06217588)
- Testing
- Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Pennsylvania
Retinitis Pigmentosa, Retinal Disease
A Long-Term Follow-Up Study in Subjects Who Received vMCO-I Administered Via Intravitreal Injection
This study "A Long-Term Follow-Up Study in Subjects Who Received an Adeno-Associated Viral Vector Serotype 2 Containing the Multi-Characteristic Opsin Gene (vMCO-I) Administered Via Intravitreal Injection" is an observational…
- Conditions
- Retinitis Pigmentosa, Retinal Disease, Retinal Degeneration
- Trial name
- EXTEND (NCT05921162)
- Testing
- Gene Therapy product:vMCO-I
- Where
- India
- Volunteers
- 11 people
- Sponsor
- Nanoscope Therapeutics Inc.
Brain and Central Nervous System Tumors, Childhood Germ Cell Tumor
Temozolomide and O6-benzylguanine in Treating Children With Solid Tumors
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.
- Conditions
- Brain and Central Nervous System Tumors, Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Kidney Cancer
- Trial name
- NCT00020150
- Testing
- O6-benzylguanine, temozolomide
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Uveal Melanoma
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
Only 20% of familial uveal melanomas are explained by a hereditary predisposition, implying the presence of as yet unknown hereditary predispositions.
- Trial name
- IGCMU (NCT06550674)
- Testing
- Constitutional exome analysis
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Centre Jean Perrin
Thyroid Associated Ophthalmopathies
MHB018A Treatment in Patients With Active Thyroid Eye Disease
The primary objective of this study is to investigate the efficacy, safety, and tolerability of MHB018A, a humanized anti-IGF1R antibody, administered q4W for 6 months, in comparison to placebo, in the treatment of participants…
- Trial name
- NCT06989918
- Testing
- MHB018A
- Where
- China
- Volunteers
- 108 people
- Sponsor
- Minghui Pharmaceutical (Hangzhou) Ltd
CADASIL, Cavernous Angioma
Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005.
- Conditions
- CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease
- Trial name
- B-MRVC2 (NCT07650110)
- Testing
- Biocollection, Neurological evaluation and Biocollection
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pain, Retinopathy of Prematurity
Proparacaine and Mydriatic Eye Drops
In this study, we will be evaluating whether premedication with an anesthetic eye drops leads to a decreased sensation of pain when given dilating eye drops prior to eye examinations to evaluate for retinopathy of prematurity in…
- Trial name
- NCT01266824
- Testing
- Proparacaine Hydrochloride Ophthalmic Solution
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital of Philadelphia
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Congenital Cataract, Microphthalmos
Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction
Early cataract surgery in microcornea/microphthalmia eyes is essential to prevent amblyopia and improve visual outcomes, including stereopsis.
- Conditions
- Congenital Cataract, Microphthalmos, Microcornea
- Trial name
- NCT04759560
- Where
- Egypt
- Volunteers
- 133 people
- Sponsor
- Alexandria University
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
The study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography.
- Trial name
- BIGPRO (NCT04229823)
- Testing
- Video-oculography, Clinical Scales, Genotyping
- Where
- Brazil
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Retinal Diseases, Fuchs Endothelial Dystrophy
DISCOVER Study: Microscope-integrated Intraoperative OCT Study
Optical coherence tomography (OCT )provides high resolution information regarding the anatomic structure of the tissues of the eye in a cross-sectional and 3 dimensional view.
- Conditions
- Retinal Diseases, Fuchs Endothelial Dystrophy, Macular Hole, Epiretinal Membrane
- Trial name
- DISCOVER (NCT02423213)
- Where
- United States
- Volunteers
- 2,911 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Cancer
MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma
RATIONALE: MS-275 may stop the growth of cancer cells by blocking the enzymes necessary for their growth. PURPOSE: This phase I trial is studying the side effects and best dose of MS-275 in treating patients with advanced solid…
- Trial name
- NCT00020579
- Testing
- entinostat
- Where
- 3 sites in United States
- Volunteers
- 75 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Healthy
Clinical Assessment of Barley and Oat Phytochemicals
The goal of this placebo-controlled, 3-way crossover study is to determine the acute (24-h) bioavailability and pharmacokinetics of the major phytochemicals found whole barley and oats, as well as their effects on selected…
- Trial name
- NCT01303562
- Testing
- Whole grain oats and barley
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Tufts University
Retinitis Pigmentosa
Validation of Standardized Test Protocols to Assess the Impact of Visual Pathologies in Daily Life Activities
the incidence of the disease of retinal degenerations with loss of photoreceptors (related to old age or genetic) on patients' daily lives, is poorly characterize without standardized means of measurement (usually performed with…
- Trial name
- PROST (NCT04448860)
- Testing
- performance of behavioral locomotion tasks phase 1, performance of behavioral locomotion tasks phase 2
- Where
- France
- Volunteers
- 87 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Aniridia
A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
This is a Phase 2, multicenter, open-label study evaluating the overall systemic and ocular safety profile of ataluren in nonsense mutation aniridia as determined by the incidences of treatment-emergent adverse events (TEAEs) as…
- Trial name
- NCT04117880
- Testing
- Ataluren
- Sponsor
- PTC Therapeutics
Inherited Ophthalmic Diseases, Inherited Retinal Degeneration
Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
Background: People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss.
- Trial name
- NCT02338973
- Testing
- Interferon gamma-1b
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Eye Institute (NEI)
Achromatopsia
Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3
This is a longer-term follow-up study of patients with achromatopsia associated with defects in CNGA3 who participated in a clinical trial in which they received AAV-CNGA3 retinal gene therapy, or of patients with achromatopsia…
- Trial name
- NCT03278873
- Testing
- Prior exposure to AAV-CNGA3 or AAV-CNGB3
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 34 people
- Sponsor
- MeiraGTx UK II Ltd
Degenerative Myopia With Macular Hole
Clinical Research of Human Retinal Pigment Epithelial (HuRPE) Cell Injection on Atrophy of High Myopia Macular Area
To evaluate the safety and tolerability of human retinal pigment epithelial (HuRPE) cell injection subretinal transplantation for atrophy of high myopia macular area, and to explore the maximum tolerated dose (MTD).
- Trial name
- NCT04212624
- Testing
- Human retinal pigment epithelial (HuRPE) cell injection
- Volunteers
- 9 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Retinopathy of Prematurity
Safety and Efficacy of Propranolol Eye Drops in Treating Retinopathy of Premature
The aim of the present study is to evaluate the safety and efficacy of propranolol eye drops in preterm newborns with a precocious stage of retinopathy of prematurity (ROP).
- Trial name
- DROP-PROP (NCT02014454)
- Testing
- Propranolol eye drops
- Where
- 2 sites in Italy
- Volunteers
- 23 people
- Sponsor
- Meyer Children's Hospital IRCCS
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