Listado de ensayos

Patología

Hepato/Renal Fibrocystic Disease Autosomal Recessive Polycystic Kidney Disease Joubert Syndrome Bardet Biedl Syndrome Meckel-Gruber Syndrome Congenital Hepatic Fibrosis Caroli Syndrome Oro-Facial-Digital Syndrome Type I Nephronophthisis Glomerulocystic Kidney Disease

Localizaciones

Children's National Health System, Washington, District of Columbia, United States

Patología

Neurodegenerative Disorders

Localizaciones

Hadassah Ein Kerem, Jerusalem, Israel

Patología

Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA

Localizaciones

University of California San Diego, San Diego, California, United States Lucile Packard Children's Hospital, Stanford, California, United States Children's Hospital of Colorado, Aurora, Colorado, United States Children's National Medical Center, Washington, District of Columbia, United States University of Florida, Gainesville, Florida, United States Massachusetts General Hospital, Boston, Massachusetts, United States Mayo Clinic, Rochester, Minnesota, United States Columbia University Medical Center, New York, New York, United States Virtual Site (Remote enrollment), New York, New York, United States Akron Children's Hospital, Akron, Ohio, United States and 7 more

Patología

RETINOSIS PIGMENTARIA Maculopathy, Age Related Macular Dystrophy Macular Edema Retinal Degeneration Diabetic Retinopathy Occlusion Retinal Vein Hypertension

Localizaciones

H pital Lariboisi re, Paris, France Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France H pital Piti -Salp tri re, Paris, France

Patología

Diabetic Retinopathy Retinal Vein Occlusion Retinal Artery Occlusion Central Serous Chorioretinopathy Pathologic Myopia RETINOSIS PIGMENTARIA Epiretinal Membrane Macular Holes Nonexudative Age-related Macular Degeneration Exudative Age Related Macular Degeneration and 3 more

Tratamiento

Diagnostic Test: Software assisted imaging diagnosis

Localizaciones

Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, BeiJing, Beijing, China The Second Hospital of Hebei Medical University, Shijia Zhuang, Hebei, China West China Hospital of Sichuan University, Chengdu, Sichuan, China Tianjin Medical University Eye Hospital, Tianjin, Tianjin, China Eye Hospital, WMU Zhejiang Eye Hospital, Wenzhou, Zhejiang, China

Patología

Usher Syndromes

Localizaciones

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France CHU Piti Salp tri re, Paris, France CHU Necker, Paris, France CHU Robert Debr , Paris, France

Patología

Prader-Willi Syndrome PWS-like Syndrome Silver Russel Syndrome Congenital Hypopituitarism Klinefelter (XXY-)Syndrome Congenital Adrenal Hyperplasia XXXXY Syndrome XXYY Syndrome XXXX Syndrome (Tetra-X Syndrome) Disorders of Sex Development and 23 more

Tratamiento

Diagnostic Test: Retrospective file studies

Localizaciones

Erasmus Medical Center, Rotterdam, Zuid-Holland, Netherlands

Patología

Bardet-Biedl Syndrome Alstr m Syndrome

Tratamiento

Genetic: Skin biopsy

Localizaciones

Les H pitaux Universitaires de Strasbourg, Strasbourg, France

Patología

Usher Syndrome, Type 1B

Localizaciones

Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy Stichting Oogziekenhuis Rotterdam, Rotterdam, Netherlands Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain

Patología

Bardet-Biedl Syndrome

Localizaciones

Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States