Search clinical trials for: Autosomal recessive congenital ichthyosis
Total 9272 results
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Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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National Medical Research Center for Children's...RecruitingCongenital IchthyosisRussian Federation
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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Clinic for Special ChildrenRecruitingMyopathy | Myopathy; Hereditary | Myopathies, Nemaline | TNNT1-associated Myopathy | Infantile-onset Nemaline Rod Myopathy | Myopathy, Rod | Amish Nemaline Myopathy | Nemaline Myopathy 5 | NEM5 | Genetic Muscle Disease | Recessive Hereditary Disorder (Autosomal) | ANMUnited States
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Inozyme PharmaGACI GlobalNot yet recruitingATP-Binding Cassette Subfamily C Member 6 Deficiency | Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency
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Assistance Publique - Hôpitaux de ParisNot yet recruitingHemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditionsFrance
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UK Kidney AssociationRecruitingVasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditionsUnited Kingdom
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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaboratorsRecruitingCongenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditionsBelgium
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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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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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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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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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Lisa M. 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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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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Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
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National Human Genome Research Institute (NHGRI)Completed
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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Westfälische Wilhelms-Universität MünsterICON plcUnknownPseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic RicketsGermany
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Ludwig-Maximilians - University of MunichCompletedInclusion Body Myositis, Sporadic | Inclusion Body Myopathy, Autosomal-recessive | Inclusion Body Myopathy, Autosomal-dominant | Congenital Cataracts, Facial Dysmorphism, And NeuropathyGermany
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Xiaofan ZhuAvailableFanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.China
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Centre Hospitalier Universitaire de NiceUnknownLamellar IchthyosisFrance
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Hannover Medical SchoolBoehringer IngelheimNot yet recruitingAutosomal Dominant Polycystic Kidney
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University College, LondonWashington University School of Medicine; University of Washington; Alzheimer... and other collaboratorsNot yet recruitingAlzheimer Disease | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 1 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 2 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Amyloid Precursor Protein (Disorder)
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University Hospital, ToulouseNot yet recruiting
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Vertex Pharmaceuticals IncorporatedRecruitingAutosomal Dominant Polycystic Kidney Disease (ADPKD)United States
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Maastricht University Medical CenterRecruitingQuality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar KeratosesNetherlands
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Rege Nephro Co., Ltd.RecruitingAutosomal Dominant Polycystic Kidney Disease (ADPKD)Japan
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University Hospital, RouenNot yet recruiting
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Université du Québec à ChicoutimiMcGill University; Université de Sherbrooke; University of Alberta; University... and other collaboratorsRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | Spastic Paraplegia 7Canada
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Mario Negri Institute for Pharmacological ResearchRecruiting
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Assistance Publique - Hôpitaux de ParisNot yet recruiting
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ModernaTX, Inc.RecruitingPhenylketonuriaUnited States, Australia
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TESS Research FoundationBrown University; Stanford University; University of Texas Southwestern Medical...RecruitingEpilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | Citrate Transporter Disorder | DEE25United States
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PYC TherapeuticsNot yet recruitingOptic Atrophies, Hereditary | Autosomal Dominant Optic Atrophy | Optic Atrophy, Autosomal Dominant | Kjer Optic AtrophyAustralia
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Azitra Inc.Not yet recruiting
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Maastricht University Medical CenterRecruiting
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University of GuelphMcMaster University; Laval UniversityNot yet recruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada
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Universitair Ziekenhuis BrusselNot yet recruiting
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University of California, San FranciscoRecruiting
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Inozyme PharmaRecruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/Phosphodiesterase1 DeficiencyUnited States, United Kingdom, Canada
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University Hospital, BrestNot yet recruitingPolycystic Kidney Diseases
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Mario Negri Institute for Pharmacological ResearchRecruitingDeveloping a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases (ANTHEM)Healthy | Autosomal Dominant Polycystic Kidney | Atypical Hemolytic Uremic Syndrome | Membranoproliferative GlomerulonephritisItaly
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Daiichi SankyoRecruiting
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University Hospital, ToulouseNot yet recruiting
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University of GuelphMcMaster UniversityRecruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada