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Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford

Estado: | Categoría: | Resultado:

Patología

Rare Disorders Undiagnosed Disorders Disorders of Unknown Prevalence Cornelia De Lange Syndrome Prenatal Benign Hypophosphatasia Perinatal Lethal Hypophosphatasia Odontohypophosphatasia Adult Hypophosphatasia Childhood-onset Hypophosphatasia Infantile Hypophosphatasia and 286 more

Localizaciones

Sanford Health, Sioux Falls, South Dakota, United States Online Patient Enrollment System, Sydney, Australia
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Transcorneal Electrical Stimulation Therapy for Retinal Disease

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARFIA Macula Off Primary Open Angle Glaucoma Hereditary Macular Degeneration Treated Retina Detachment Retinal Artery Occlusion Retinal Vein Occlusion Non-Arthritic-Anterior-Ischemic Optic- Neuropathy Hereditary Autosomal Dominant Optic Atrophy Dry Age Related Macular Degeneration Ischemic Macula Edema

Tratamiento

Device: Transcorneal Electrical Stimulation Device: DTL-electrode attached without energy
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Autosomal Dominant RETINOSIS Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARIA AUTOSOMICA DOMINANTE

Tratamiento

Genetic: genetic analysis

Localizaciones

CHRU Montpellier, Montpellier, France
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A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant RETINOSIS Pigmentosa Due to the P23H Mutation in the RHO Gene

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARIA AUTOSOMICA DOMINANTE Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease RETINOSIS Vision Tunnel Vision Disorders

Tratamiento

Drug: QR-1123 Other: Sham procedure

Localizaciones

Sue Anschutz-Rogers Eye Center, University of Colorado - Dept. of Ophthalmology, Aurora, Colorado, United States VitreoRetinal Associates, Gainesville, Florida, United States Shriners UK Ophthalmology - University of Kentucky, Lexington, Kentucky, United States Casey Eye Institute, OHSU, Portland, Oregon, United States Retina Foundation of the Southwest, Dallas, Texas, United States
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Observational Natural History Study of Autosomal Dominant RETINOSIS Pigmentosa (adRP)

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARFIA

Tratamiento

Diagnostic Test: Observation

Localizaciones

Texas Retina Associates,, Dallas, Texas, United States
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Oral QLT091001 in RETINOSIS Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65)

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARFIA (RP)

Tratamiento

Drug: QLT091001

Localizaciones

Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada Royal Victoria Eye and Ear Hospital, Dublin, Ireland
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Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARIA

Localizaciones

Shiley Eye Institute - UCSD, La Jolla, California, United States Emory Eye Centre, Atlanta, Georgia, United States Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States Kellogg Eye Center, Ann Arbor, Michigan, United States UPMC Eye Centre, Pittsburgh, Pennsylvania, United States The Hospital for Sick Children, Toronto, Canada Moorfields Eye Hospital, London, United Kingdom
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Long-term Safety and Efficacy Follow-up of BIIB111 for the Treatment of Choroideremia and BIIB112 for the Treatment of X-Linked Retinitis Pigmentosa

Estado: | Categoría: | Resultado:

Patología

Choroideremia RETINOSIS PIGMENTARIA LIGADA A X

Tratamiento

Genetic: BIIB111 Genetic: BIIB112

Localizaciones

Research Site, Gainesville, Florida, United States Research Site, Miami, Florida, United States Research Site, Cincinnati, Ohio, United States Research Site, Portland, Oregon, United States Research Site, Dallas, Texas, United States Research Site, Madison, Wisconsin, United States Research Site, Edmonton, Alberta, Canada Research Site, Helsinki, Finland Research Site, Bonn, Germany Research Site, T bingen, Germany Research Site, Oxford, United Kingdom
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Long Term Follow-Up Gene Therapy Study for XLRP RPGR

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARIA LIGADA A X

Tratamiento

Biological: AAV-RPGR

Localizaciones

Moorfields Eye Hospital, London, United Kingdom
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