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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic VariantsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, eye disorder, hereditary disease, inherited retinal dystrophy, retinal degeneration, retinal disorder, retinitis pigmentosaRecruitingNot stated2026-09-08NCT05589714
Gyrate Atrophy Ocular and Systemic StudyAtrophy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, eye disorder, hereditary disease, optic choroid disorder, ornithine aminotransferase deficiency, uveal disorderActive, not recruitingNot stated2026-08-17NCT05312736
Rate of Progression in USH2A-related Retinal DegenerationUsher syndrome type 2A, retinitis pigmentosa 39Active, not recruitingNot stated2026-07-23NCT03146078
A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Usher syndrome, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, otorhinolaryngologic disease, retinal degeneration, retinal disorder, retinitis pigmentosa, vision disorderNot yet recruitingPhase 32026-07-17NCT07710196
Inherited Retinal Degenerative Disease RegistryAbnormalities, Multiple, Bardet-Biedl syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Disease Attributes, Dyslipidemias, Ear Diseases, Eye Diseases, Hereditary, Goldmann-Favre syndrome, Hearing Loss, Sensorineural, Juvenile Macular Degeneration, Kearns-Sayre syndrome, Leber congenital amaurosis, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, X-linked disease, abetalipoproteinemia, achromatopsia, achromatopsia 3, adult Refsum disease, blindness (disorder), brain disorder, cardiomyopathy, cardiovascular disorder, central areolar choroidal dystrophy, central nervous system disorder, central nervous system malformation, choroideremia, color vision disorder, cone dystrophy, cone-rod dystrophy, congenital stationary night blindness, cranial nerve neuropathy, enhanced S-cone syndrome, eye disorder, fundus albipunctatus, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary motor and sensory neuropathy, hypobetalipoproteinemia, hypolipoproteinemia, hypothalamic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic choroid disorder, ornithine aminotransferase deficiency, otorhinolaryngologic disease, palsy, peripheral nervous system disorder, polyneuropathy, progressive external ophthalmoplegia, retinal degeneration, retinal disorder, retinitis pigmentosa, retinitis punctata albescens, retinoschisis, uveal disorder, vision disorder, vitelliform macular dystrophyRecruitingNot stated2026-05-19NCT02435940
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1FCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, autosomal recessive nonsyndromic hearing loss 23, eye disorder, hereditary disease, inherited retinal dystrophy, retinal degeneration, retinal disorder, retinitis pigmentosaActive, not recruitingNot stated2026-02-04NCT04765345