Clinical Trials on Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
Total 32 results
-
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
-
University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
-
Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
-
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
-
Université de SherbrookeAtaxia Charlevoix-Saguenay FoundationRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
-
Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
-
Children's Hospital of Orange CountyActive, not recruitingNeuronal Ceroid-Lipofuscinoses | Neuronal Ceroid Lipofuscinosis CLN2 | Spinocerebellar Ataxia, Autosomal Recessive 7United States
-
Dr. Rebecca SchuleGerman Research Foundation; German Center for Neurodegenerative Diseases (DZNE)RecruitingSpastic AtaxiaCanada, France, Germany, Italy, Netherlands, Turkey, United Kingdom
-
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 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
-
Sheba Medical CenterElMindA LtdRecruitingFragile X Associated Tremor-ataxia Syndrome | FXTASIsrael
-
University of MinnesotaWithdrawnMild Cognitive Impairment (MCI) | Amyotrophic Lateral Sclerosis (ALS) | Dementia With Lewy Bodies (DLB) | Alzheimer Disease (AD) | Frontotemporal Lobar Degeneration (FTLD) | Parkinsons Disease With Dementia (PDD) | Transient Epileptic Amnesia (TEA) | Temporal Lobe Epilepsy (TLE) | Spinocerebellar Ataxias... 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
-
Hugo W. Moser Research Institute at Kennedy Krieger...RecruitingNeurodegenerative Diseases | Ataxia | Cerebellar Ataxia | Leukodystrophy | Adrenomyeloneuropathy | LBSL | Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation | Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)United States
-
Azienda Ospedaliera Universitaria SeneseEuropean Institute of Oncology; Kolfarma s.r.l. - ItalyCompletedEpilepsy | Quality of Life | Dysbiosis | Rett SyndromeItaly
-
METAFORA biosystemsAssistance Publique - Hôpitaux de Paris; European Commission; Ministry for Health... and other collaboratorsCompletedMovement Disorders | Intellectual Disability | Seizures | Ataxia | Glut1 Deficiency Syndrome | De Vivo DiseaseFrance
-
Maimonides Medical CenterFoundation for Prader-Willi ResearchRecruitingBody Weight | Hyperphagia | Prader-Willi Syndrome | Mood | Behavior | Excessive Daytime SleepinessUnited States
-
Simons SearchlightBoston Children's Hospital; Geisinger Clinic; Simons FoundationRecruitingSMARCA4 Gene Mutation | DDX3X | 16P11.2 Deletion Syndrome | 16p11.2 Duplications | 1Q21.1 Deletion | 1Q21.1 Microduplication Syndrome (Disorder) | ACTL6B | ADNP | AHDC1 | ANK2 | ANKRD11 | ARID1B | ASH1L | BCL11A | CHAMP1 | CHD2 | CHD8 | CSNK2A1 | CTBP1 | CTNNB1 Gene Mutation | CUL3 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-Related Intellectual... and other conditionsUnited States
-
University Hospital, ToulouseRecruitingEpilepsy | Prader-Willi Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | X Fragile SyndromeFrance
-
The University of Hong KongCompletedEpilepsy | Cerebral Palsy | Intellectual Disability | Down Syndrome | Developmental Disability | Developmental Delay | Learning Disorders | Autistic Spectrum Disorders | Developmental DisordersChina
-
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
-
University of Split, School of MedicineGeneral Hospital ZadarUnknownEpilepsy | Cerebral Palsy | Diabetes Mellitus, Type 1 | Stress | Asthma | Chronic Disease | Autism Spectrum Disorder | Down Syndrome | Developmental Disability | Pervasive Developmental DisorderCroatia
-
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
-
Richard FryeAutism Discovery and Treatment FoundationRecruitingEpilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal InfectionUnited States
-
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
-
Children's Hospital of PhiladelphiaEli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaboratorsRecruitingMucopolysaccharidoses | Leukoencephalopathies | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2... and other conditionsUnited States
-
Children's Hospital of PhiladelphiaIllumina, Inc.Active, not recruitingMucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditionsUnited States
-
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
-
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
-
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
-
National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
-
Sanguine BiosciencesCompletedDepression | Melanoma | Epilepsy | Lymphoma | Multiple Sclerosis | Kidney Cancer | Cervical Cancer | Diabetes Mellitus | Leukemia | Breast Cancer | Chronic Kidney Diseases | Chronic Obstructive Pulmonary Disease | Parkinson's Disease | Systemic Lupus Erythematosus | Multiple Myeloma | Hepatitis B | Insomnia | Colorectal Cancer | HIV/AID... and other conditionsUnited States