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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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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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Trial of Oral Valproic Acid for RETINOSIS Pigmentosa

Estado: | Categoría: | Resultado:

Patología

RETINOSIS PIGMENTARFIA

Tratamiento

Drug: Valproic Acid Drug: Placebo

Localizaciones

University of Miami, Bascom Palmer Eye Institute, Miami, Florida, United States University of Michigan, Ann Arbor, Ann Arbor, Michigan, United States Oregon Health & Science University, Portland, Oregon, United States University of Tennessee, Hamilton Eye Institute, Memphis, Tennessee, United States Retina Foundation of the Southwest, Dallas, Texas, United States University of Utah School of Medicine, Moran Eye Center, Salt Lake City, Utah, 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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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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