Clinical Trials on Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect

Total 8 results

  • Sanford Health
    National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators
    Recruiting
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)
    Mitochondrial 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 conditions
    United States, Australia
  • Johns Hopkins University
    Terminated
    Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
    Ataxia-Telangiectasia (A-T)
    United States
  • Johann Wolfgang Goethe University Hospital
    Unknown
    Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) (GHAT)
    Growth Failure | Ataxia Telangiectasia
    Germany
  • Xiaofan Zhu
    Available
    Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
    Fanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.
    China
  • Hospital Universitari Vall d'Hebron Research Institute
    Erasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet...
    Recruiting
    RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) (RADeep)
    Iron Metabolism Disorders | Sickle Cell Disease | Thalassemia | Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder | Anemia Due to Membrane Defect | CDA | Sideroblastic Anemia | Constitutional Aplastic Anemia | Hereditary Anemia
    Spain
  • UK Kidney Association
    Recruiting
    National Registry of Rare Kidney Diseases (RaDaR)
    Vasculitis | 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 conditions
    United Kingdom
  • RTI International
    Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators
    Enrolling by invitation
    Early Check: Expanded Screening in Newborns
    Primary 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 conditions
    United States
  • Centre Hospitalier Universitaire de Liege
    Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators
    Recruiting
    Baby Detect : Genomic Newborn Screening
    Congenital 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 conditions
    Belgium

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