Clinical Trials on Autosomal Recessive Disorder (Genetic Carriers of PKU)
Total 1127 results
-
University of GuelphMcMaster University; Laval UniversityNot yet recruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada
-
University of GuelphMcMaster UniversityRecruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada
-
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
-
Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney (ARPKD)United States, United Kingdom, Belgium, Poland, France, Germany, Italy
-
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
-
Wayne State UniversityUnknownAneuploidy | Autosomal Recessive DisorderUnited States
-
Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney Disease (ARPKD)United States, Belgium, Spain, Germany, United Kingdom, Poland
-
Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
-
Origin BiosciencesCompletedMolybdenum Cofactor Deficiency (MoCD) | Rare Autosomal Recessive Disorder | Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)United States
-
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
-
Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
-
Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
-
Otsuka Pharmaceutical Europe LtdUnknownAutosomal Dominant Polycystic Kidney DiseaseSpain, United Kingdom, Germany, France, Belgium, Switzerland, Austria
-
Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
-
Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
-
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)
-
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
-
Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
-
Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
-
National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
-
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
-
Université de SherbrookeAtaxia Charlevoix-Saguenay FoundationRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
-
Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
-
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
-
Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States
-
NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
-
BioprojetCompletedTreatment of Excessive Daytime Sleepiness in NarcolepsyFrance
-
CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
-
Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
-
Charles A. Czeisler, PhD, MDAxsome Therapeutics, Inc.RecruitingExcessive Sleepiness | Shift-work DisorderUnited States
-
University Hospital, RouenCompletedAutosomal Dominant Cases of Alzheimer 's DiseaseFrance
-
University Health Network, TorontoOrganonCompletedDepression | Excessive Daytime SleepinessCanada
-
University of Texas Southwestern Medical CenterWithdrawnFamilial HypercholesterolemiaUnited States
-
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
-
Regeneron PharmaceuticalsSanofiCompletedHypercholesterolemiaFrance, United States
-
Otsuka Canada Pharmaceutical Inc.RecruitingAutosomal Dominant Polycystic Kidney Disease (ADPKD)Canada
-
Concert PharmaceuticalsCompletedNarcolepsy, Excessive Daytime SleepinessUnited Kingdom
-
AbbottCompleted
-
CephalonCompletedExcessive SleepinessUnited States
-
Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose 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
-
University Hospital, MontpellierINSERM U1061 MontpellierRecruitingSomnolence Disorder, ExcessiveFrance
-
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
-
CephalonCompletedExcessive SleepinessUnited States
-
Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States
-
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
-
Hospices Civils de LyonRecruitingHypersomnia | Sleepiness, Excessive DaytimeFrance
-
Eva Morava-KoziczNot yet recruitingSLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of GlycosylationUnited States
-
Assistance Publique - Hôpitaux de ParisCompletedExcessive Daytime SleepinessFrance
-
Assiut UniversityNot yet recruitingGenetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
-
McMaster UniversityCompletedPolyuria | Autosomal Dominant Polycystic KidneyCanada