Clinical Trials on Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerl

Total 18 results

  • Cure CMD
    Recruiting
    Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)
    Emery-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 conditions
    United States
  • Icahn School of Medicine at Mount Sinai
    Research Foundation for Mental Hygiene, Inc.; Autism Science Foundation; The...
    Recruiting
    FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
    Autism Spectrum Disorder | FOXP1 | Mental Retardation With Language Impairment and With or Without Autistic Features
    United States
  • State University of New York - Upstate Medical...
    Terminated
    Genetic Disease Gene Identification
    Familial Encephalopathy With Neuroserpin Inclusion Bodies | X-linked Mental Retardation | Congenital Vertical Talus | Idiopathic Generalised Epilepsy | Familial Dementia
    United States
  • University of California, San Francisco
    California Institute for Regenerative Medicine (CIRM)
    Enrolling by invitation
    In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
    Hemoglobinopathies | Alpha Thalassemia Major | Thalassemia Major | Fetal Hydrops | Hemoglobinopathy; With Thalassemia | Fetal Anemia | Alpha; Thalassemia | Thalassemia Alpha | A-Thalassemia
    United States
  • Chinese Academy of Medical Sciences, Fuwai Hospital
    Not yet recruiting
    A Comparison of Biodegradable and Metal Occluders in Patients With PFO and Migraine (BioMetal)
    Migraine | Migraine Headache | PFO - Patent Foramen Ovale | Migraine Headache, With or Without Aura
    China
  • Institut Jerome Lejeune
    Fondation Jérôme Lejeune
    Completed
    Pilot Study of Auto-immune Abnormalities Associated With Down Syndrome (IMMUTRI)
    Down Syndrome With and Without Auto Immune Abnormalities
    France
  • University of California, Davis
    Eunice Kennedy Shriver National Institute of Child Health and Human Development...
    Enrolling by invitation
    Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
    Intellectual Disability | Down Syndrome | Attention Deficit Hyperactivity Disorder | Fragile X Syndrome
    United States
  • Children's Oncology Group
    National Cancer Institute (NCI)
    Completed
    Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
    Chronic Myelomonocytic Leukemia | Fanconi Anemia | Childhood Acute Erythroleukemia (M6) | Childhood Acute Megakaryocytic Leukemia (M7) | Childhood Acute Monoblastic Leukemia (M5a) | Childhood Acute Monocytic Leukemia (M5b) | Childhood Acute Myeloblastic Leukemia With Maturation (M2) | Childhood Acute... and other conditions
    United States
  • Masonic Cancer Center, University of Minnesota
    Recruiting
    MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
    Hurler 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 conditions
    United States
  • ProgenaBiome
    Recruiting
    A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism
    Autism Spectrum Disorder | Autistic Disorder | Autism | Autism, Akinetic | Autism; Atypical | Autism; Psychopathy | Autism Fragile Syndrome X | Autism With High Cognitive Abilities | Autism-Related Speech Delay | Autism, Susceptibility to, 6 | Autism Spectrum Disorder High-Functioning | Autistic Thinking | Autism... and other conditions
    United States
  • Children's Oncology Group
    National Cancer Institute (NCI)
    Completed
    Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes
    Secondary Acute Myeloid Leukemia | Childhood Acute Erythroleukemia (M6) | Childhood Acute Megakaryocytic Leukemia (M7) | Childhood Acute Monoblastic Leukemia (M5a) | Childhood Acute Monocytic Leukemia (M5b) | Childhood Acute Myeloblastic Leukemia With Maturation (M2) | Childhood Acute Myeloblastic... and other conditions
    United States, Canada, Australia, Puerto Rico
  • 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
  • Children's Hospital of Philadelphia
    Illumina, Inc.
    Active, not recruiting
    LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
    Mucopolysaccharidoses | 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 conditions
    United States
  • Children's Hospital of Philadelphia
    Eli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaborators
    Recruiting
    The Myelin Disorders Biorepository Project (MDBP)
    Mucopolysaccharidoses | 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 conditions
    United States
  • 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
  • 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
  • National Human Genome Research Institute (NHGRI)
    Recruiting
    A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
    Metabolic 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 conditions
    United States
  • 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

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