Clinical Trials on Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2

Total 15 results

  • Newcastle-upon-Tyne Hospitals NHS Trust
    Recruiting
    Global Registry for COL6-related Dystrophies
    Bethlem 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 | BTHLM1
    United Kingdom
  • Istituto Ortopedico Rizzoli
    Completed
    Low Protein Diet in Patients With Collagen VI Related Myopathies (LPD)
    Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy
    Italy
  • Myotonic Dystrophy Foundation
    Recruiting
    Myotonic Dystrophy Family Registry (MDFR)
    Myotonic Dystrophy | Myotonic Dystrophy 1 | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Steinert Disease | Dystrophia Myotonica 1 | Myotonic Dystrophy 2 | Dystrophia Myotonica | Dystrophia Myotonica 2 | Myotonia Dystrophica | Myotonic Dystrophy, Congenital | Myotonic... and other conditions
    United States
  • Ohio State University
    Gilead Sciences
    Completed
    Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
    Myotonic Dystrophy 1 | Myotonia Congenita | Paramyotonia Congenita
    United States
  • University of Rochester
    National Institute of Neurological Disorders and Stroke (NINDS)
    Recruiting
    Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
    Muscular Dystrophy | Myotonic Dystrophy Type 2 | Myotonic Dystrophy Type 1 | Myotonic Dystrophy | Facioscapulohumeral Muscular Dystrophy | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Myotonic Muscular Dystrophy
    United States
  • Bionano Genomics
    Columbia University; University of Iowa; Medical College of Wisconsin; Augusta... and other collaborators
    Recruiting
    Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
    Intellectual Disability | Autism Spectrum Disorder | Fragile X Syndrome | Developmental Disability | Congenital Anomaly | Facioscapulohumeral Muscular Dystrophy 1
    United States
  • Grete Andersen, MD
    Completed
    Lamotrigine as Treatment of Myotonia
    Hyperkalemic Periodic Paralysis | Myotonia Congenita | Paramyotonia Congenita | Dystrophia Myotonica Type 1 | Potassium-Aggravated Myotonia
    Denmark
  • 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
  • National Taiwan University Hospital
    Recruiting
    Taiwan Associated Genetic and Nongenetic Small Vessel Disease (TAG-SVD)
    Stroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation Sequencing
    Taiwan
  • University Hospital, Montpellier
    Agence de La Biomédecine
    Active, not recruiting
    NIPD on cffDNA for Triplet Repeat Diseases
    Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy 1
    France
  • Nemours Children's Clinic
    Recruiting
    Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
    Charcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Muscular Atrophy | Neuromuscular Disease | Spinal Muscular Atrophy With Respiratory Distress 1 | Peroneal Muscular Atrophy
    United States
  • Freeman-Sheldon Research Group, Inc.
    Terminated
    Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)
    Craniofacial Abnormalities | Arthrogryposis | Freeman-Sheldon Syndrome | Arthrogryposis Distal Type 2A | Whistling Face Syndrome | Craniocarpotarsal Dysplasia | Craniocarpotarsal Dystrophy | Freeman-Sheldon Syndrome Variant | Sheldon-Hall Syndrome | Arthrogryposis Distal Type 2B | Gordon Syndrome | Arthrogryposis... 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
  • 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
  • Roswell Park Cancer Institute
    Completed
    Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
    Primary Myelofibrosis | Polycythemia Vera | Chronic Myelomonocytic Leukemia | Recurrent Adult Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Burkitt Lymphoma and other conditions
    United States

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