Clinical Trials on Autosomal+Recessive+Ataxia+Due+to+PEX10+Deficiency
Total 74 results
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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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Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
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University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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Cadent TherapeuticsWithdrawnSpinocerebellar Ataxia Type 3 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6 | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxia Type 8 | Spinocerebellar Ataxia Type 17 | ARCA1 - Autosomal Recessive...United States
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Université de SherbrookeAtaxia Charlevoix-Saguenay FoundationRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Beth Israel Deaconess Medical CenterAmgenCompletedEnergy Deficiency Due to Short-term FastingUnited States
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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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Assistance Publique - Hôpitaux de ParisNot yet recruitingNutrition Deficiency (Xanth Deficiency) Due to A Particular Kind of Food
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Ain Shams UniversityRecruitingCarnitine Deficiency Due to HemodialysisEgypt
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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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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
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IRCCS Fondazione Stella MarisRecruitingCreatine Deficiency, X-linked | Creatine Deficiency Syndrome Due to Gamt DeficiencyItaly
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Genelex CorporationUniversity of UtahCompletedDrug Interaction Potentiation | Adverse Drug Events | Adverse Drug Reactions | Poor Metabolizer Due to Cytochrome P450 CYP2C9 Variant | Drug Metabolism, Poor, CYP2D6-RELATED | Drug Metabolism, Poor, CYP2C19-RELATED | Cytochrome P450 Enzyme Deficiency | Cytochrome P450 CYP2D6 Enzyme Deficiency | Cytochrome... and other conditionsUnited States
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The University of The West IndiesInternational Atomic Energy AgencyCompletedNutrition Deficiency Due to A Particular Kind of FoodJamaica
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Johann Wolfgang Goethe University HospitalUnknownGrowth Failure | Ataxia TelangiectasiaGermany
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Holostem Terapie Avanzate s.r.l.CromsourceCompletedLimbal Stem Cell Deficiency Due to Ocular BurnItaly
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Genelex CorporationHarding UniversityCompletedDrug Interaction Potentiation | Adverse Drug Events | Adverse Drug Reactions | Poor Metabolizer Due to Cytochrome P450 CYP2C9 Variant | Poor Metabolizer Due to Cytochrome p450 CYP2C19 Variant | Drug Metabolism, Poor, CYP2D6-RELATED | Drug Metabolism, Poor, CYP2C19-RELATED | Cytochrome P450 Enzyme... and other conditionsUnited States
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Al-Azhar UniversityCompletedSkeletal Class 3 Malocclusion Due to Maxillary DeficiencyEgypt
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Genelex CorporationCompletedDrug Metabolism, Poor, CYP2D6-RELATED | Drug Metabolism, Poor, CYP2C19-RELATED | Cytochrome P450 CYP2D6 Enzyme Deficiency | Cytochrome P450 CYP2C9 Enzyme Deficiency | Cytochrome P450 CYP2C19 Enzyme Deficiency | Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant | CYP2D6 Polymorphism | Ultrarapid... and other conditionsUnited States
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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
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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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Iowa State UniversityCompletedIron-deficiency | Iron Deficiency Anemia | Iron Deficiency Anemia Treatment | Iron Deficiency Anaemia Due to Dietary CausesUnited States
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Prehospital Center, Region ZealandActive, not recruitingDrowning | Drowning; Anoxia | Drowning, Near | Drowning and Nonfatal Submersion | Drowning or Immersion of Unknown Intent | Drowning and Submersion, Undetermined Intent | Drowning and Submersion While in Natural Water | Drowning and Submersion Due to Sailboat Sinking | Drowning and Submersion Due to... and other conditionsDenmark
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CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
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Prehospital Center, Region ZealandNot yet recruitingDrowning | Drowning; Anoxia | Drowning, Near | Drowning; Asphyxia | Drowning and Nonfatal Submersion | Drowning or Immersion of Unknown Intent | Drowning and Submersion, Undetermined Intent | Drowning and Submersion While in Natural Water | Drowning and Submersion Due to Sailboat Sinking | Drowning and... and other conditionsDenmark
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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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Central Hospital, Nancy, FranceCompletedPremature Infants | Growth Retardation | Nutrition Deficiency Due to Insufficient Food
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Texas Tech University Health Sciences Center, El...CompletedIron-deficiency | Iron Deficiency Anemia | Iron Deficiency Anemia Treatment | Iron Deficiency Anemia Due to Blood LossUnited States
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Fondazione TelethonActive, not recruitingSevere Combined Immunodeficiency Due to ADA DeficiencyItaly
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Great Ormond Street Hospital for Children NHS Foundation...Orchard TherapeuticsCompletedSevere Combined Immunodeficiency Due to ADA DeficiencyUnited Kingdom
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University of California, Los AngelesWithdrawnSevere Combined Immunodeficiency Due to ADA DeficiencyUnited States
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Fondazione TelethonCompletedSevere Combined Immunodeficiency Due to ADA DeficiencyItaly
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Leiden University Medical CenterZonMw: The Netherlands Organisation for Health Research and Development; Horizon...RecruitingSevere Combined Immunodeficiency Due to RAG1 DeficiencySpain, Netherlands, Italy, Poland, Australia, Turkey, United Kingdom
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University of California, Los AngelesOrchard Therapeutics; California Institute for Regenerative Medicine (CIRM)CompletedSevere Combined Immunodeficiency Due to ADA DeficiencyUnited States
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Mayo ClinicrEVO BiologicsTerminatedThrombophilia Due to Acquired Antithrombin III DeficiencyUnited States
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IVI MadridWithdrawnVitamin D Deficiency | Hormone Deficiency | Female Infertility Due to Diminished Ovarian Reserve | Follicular Cyst of OvarySpain
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Prehospital Center, Region ZealandNot yet recruitingDrowning | Drowning; Anoxia | Drowning, Near | Drowning; Asphyxia | Drowning and Nonfatal Submersion | Drowning or Immersion of Unknown Intent | Drowning and Submersion, Undetermined Intent | Drowning and Submersion While in Bath-Tub | Drowning and Submersion While in Natural Water | Drowning and Submersion... and other conditionsDenmark
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Prehospital Center, Region ZealandNot yet recruitingDrowning | Drowning; Anoxia | Drowning, Near | Drowning; Asphyxia | Drowning or Immersion of Unknown Intent | Drowning and Submersion, Undetermined Intent | Drowning and Submersion While in Bath-Tub | Drowning and Submersion While in Natural Water | Drowning and Submersion Due to Sailboat Sinking | Drowning... and other conditionsDenmark
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National Human Genome Research Institute (NHGRI)RecruitingArterial Calcification Due to Deficiency of CD73United States
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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
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NMC Specialty HospitalGovind Ballabh Pant Institute of Postgraduate Medical Education and Research and other collaboratorsCompletedCritically Ill | Feeding Patterns | Parenteral Nutrition Associated Liver Disease | Enteral and Supplement Feeds Adverse Reaction | Nutrition Deficiency Due to Insufficient FoodUnited Arab Emirates
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Rambam Health Care CampusRecruitingAortic Stenosis | Iron Deficiency Anemia Due to Blood LossIsrael
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Rhythm Pharmaceuticals, Inc.CompletedObesity | Genetic Obesity | Obesity Due to Melanocortin 4 Receptor DeficiencyUnited States, United Kingdom, Germany, Netherlands, France, Canada, Greece, Israel, Spain
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St. Justine's HospitalToronto-Dominion Bank of Canada Funds for Clinical Research projects.CompletedImmune Deficiency | Autoimmune Rheumatologic Disease | Pain Due to Certain Specified Procedures | Child/Adolescent ProblemsCanada
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Avni JoshiEnrolling by invitationCommon Variable Immunodeficiency | Interstitial Lung Disease Due to Systemic DiseaseUnited States
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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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Inozyme PharmaEngage Health Inc.; GACI GlobalCompletedGeneralized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2United States
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Laurie EisenbergChildren's Hospital Los Angeles; Huntington Medical Research Institutes; Keck...UnknownProfound Bilateral Deafness Due to | Bilateral Cochlear Aplasia | Bilateral Cochlear Nerve Deficiency | Bilateral Cochlear Ossification Secondary to MeningitisUnited States