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Search clinical trials for: Recessive Dystrophic Epidermolysis Bullosa
Total 253 results
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Asociación para Evitar la Ceguera en MéxicoEmmecellRecruitingEndothelial Dysfunction | Corneal Edema | Fuchs' Endothelial Dystrophy | Fuchs Dystrophy | Corneal Endothelial Dystrophy | Bullous Keratopathy | Pseudophakic Bullous Keratopathy | Corneal Edema PseudophakicMexico
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University Hospital, AntwerpBelgium Health Care Knowledge CentreRecruitingCorneal Edema | Fuchs' Endothelial Dystrophy | Bullous Keratopathy | Pseudophakic Bullous Keratopathy | Corneal Endothelial DisorderBelgium
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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University Hospital, Strasbourg, FranceRecruiting
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ModernaTX, Inc.RecruitingGlycogen Storage DiseaseUnited States, Canada
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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Inozyme PharmaNot yet recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency
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University of OxfordRecruitingCOVID-19Lao People's Democratic Republic, Thailand, Brazil, Pakistan
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University College, LondonRecruitingNon-Dystrophic MyotoniaUnited Kingdom
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AMO Pharma LimitedRecruitingCongenital Myotonic DystrophyUnited States, Canada, Australia, New Zealand
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Aspa TherapeuticsRecruitingCanavan DiseaseUnited States
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National Medical Research Center for Children's...RecruitingCongenital IchthyosisRussian Federation
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Myrtelle Inc.RecruitingCanavan DiseaseUnited States
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University of PennsylvaniaUniversity of Amsterdam; University of Cape Town; University of Witwatersrand...RecruitingHomozygous Familial HypercholesterolemiaUnited States, Netherlands, South Africa
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Rigshospitalet, DenmarkRecruitingNondystrophic Myotonia | Paramyotonia CongenitaDenmark
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney Disease (ARPKD)United States, Belgium, Spain, Germany, United Kingdom, Poland
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney (ARPKD)United States, United Kingdom, Belgium, Poland, France, Germany, Italy
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National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
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Dr. Rebecca SchuleGerman Research Foundation; German Center for Neurodegenerative Diseases (DZNE)RecruitingSpastic AtaxiaCanada, France, Germany, Italy, Netherlands, Turkey, United Kingdom
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University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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Aspa TherapeuticsRecruiting
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Newcastle-upon-Tyne Hospitals NHS TrustRecruitingBethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1United Kingdom
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Indiana UniversityRecruitingAortic Valve Disease | Marfan Syndrome | Bicuspid Aortic Valve | Thoracic Aortic Aneurysm | Thoracic Aortic Dissection | Turner Syndrome | Vascular Ehlers-Danlos Syndrome | Familial Thoracic Aortic Aneurysm and Aortic Dissection | PHACE Syndrome | Aortopathies | Thoracic Aortic Disease | Thoracic Aortic Rupture and other conditionsUnited States
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National Institute of Allergy and Infectious Diseases...Recruiting
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Myotonic Dystrophy FoundationRecruitingMyotonic Dystrophy | Myotonic Dystrophy 1 | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Steinert Disease | Dystrophia Myotonica 1 | Myotonic Dystrophy 2 | Dystrophia Myotonica | Dystrophia Myotonica 2 | Myotonia Dystrophica | Myotonic Dystrophy, Congenital | Myotonic... and other conditionsUnited States
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Masonic Cancer Center, University of MinnesotaRecruitingHurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Metachromatic Leukodystrophy | Alpha-Mannosidosis | Hunter Syndrome | Mucopolysaccharidosis Disorders | Maroteaux Lamy Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Glycoprotein Metabolic Disorders | Recessive Leukodystrophies | Globoid... and other conditionsUnited States
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia
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Cure CMDRecruitingEmery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditionsUnited States
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Lisa Guay WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RecruitingNephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney DiseaseUnited States
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Astellas Pharma Global Development, Inc.Active, not recruitingStargardt's Macular DystrophyItaly, United States, Israel, United Kingdom, Germany, Spain, Hungary, France
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Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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National Human Genome Research Institute (NHGRI)CompletedGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2United States
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Inozyme PharmaActive, not recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyUnited States, Canada, Germany, France, United Kingdom
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Alcon ResearchEnrolling by invitationCorneal Edema | Bullous Keratopathy | Corneal Dystrophy | Entropion | Corneal ErosionUnited States
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Lupin Ltd.Active, not recruitingMyotonic DystrophyFrance, Germany, United Kingdom
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EmmecellActive, not recruitingEndothelial Dysfunction | Corneal Edema | Fuchs Dystrophy | Corneal Endothelial Dystrophy | Bullous Keratopathy | Pseudophakic Bullous Keratopathy | Corneal Endothelial Dysfunction | Fuchs Endothelial Corneal Dystrophy | Moderate Corneal Endothelial DecompensationUnited States
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Murdoch Childrens Research InstituteUniversity of Sydney; Sydney Children's Hospitals Network; Women's and Children... and other collaboratorsActive, not recruitingAutosomal Recessive Disorder | X-Linked Genetic DiseasesAustralia
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States
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Children's Hospital of Orange CountyActive, not recruitingNeuronal Ceroid-Lipofuscinoses | Neuronal Ceroid Lipofuscinosis CLN2 | Spinocerebellar Ataxia, Autosomal Recessive 7United States
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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TESS Research FoundationStanford UniversityEnrolling by invitationEpilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | 17p13.1 Deletions Confined to SLC13A5 Gene | Citrate Transporter DisorderUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedParkinson Disease 6, Early-Onset | Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human | Parkinson Disease Autosomal Recessive, Early Onset | Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1United States
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AMO Pharma LimitedCompletedCongenital Myotonic DystrophyUnited States, Canada, New Zealand, Australia, United Kingdom
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Assistance Publique - Hôpitaux de ParisCompletedSpastic Paraplegia Type 5A, RecessiveFrance
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Alcon ResearchCompletedKeratoconjunctivitis | Corneal Edema | Corneal Ulcer | Bullous Keratopathy | Bell Palsy | Corneal Dystrophy | Entropion | Filamentary Keratitis | Corneal Erosion | Foreign Body in Cornea | Sicca Syndrome; Keratoconjunctivitis (Etiology)United States
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Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Rigshospitalet, DenmarkCompletedNon-Dystrophic Myotonia | Myotonia CongenitaDenmark
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University of MinnesotaFriedreich's Ataxia Research Alliance; Bob Allison Ataxia Research CenterCompletedFriedreich AtaxiaUnited States