Clinical Trials on Muscular Dystrophies, Limb-Girdle

Total 1171 results

  • Assistance Publique - Hôpitaux de Paris
    Not yet recruiting
    Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (DANNIgene)
    Hemophilia 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 conditions
    France
  • Casa Colina Hospital and Centers for Healthcare
    Completed
    Exploring Accessible Beauty for Individuals With Upper Extremity Deficits
    Multiple Sclerosis | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Graves Disease | Myasthenia Gravis | Traumatic Brain Injury | Stroke, Ischemic | Stroke, Acute | Stroke Hemorrhagic | SCI - Spinal Cord Injury | Guillain-Barre Syndrome | Lupus Erythematosus | Stroke (CVA) or TIA | Ehlers-Danlos Syndromes...
    United States
  • University of Oxford
    Wellcome Trust; National Institute for Health Research, United Kingdom; Arthritis...
    Completed
    Epidemiology and Outcomes of Upper Limb Surgery: Analysis of Routine Data
    Osteoarthritis | Rotator Cuff Tear | Avascular Necrosis | Inflammatory Arthritis | Shoulder Dislocation | Dupuytren Contracture | Impingement Syndrome, Shoulder | Elbow Arthropathy | Trigger Digit | Shoulder Arthropathy | Upper Limb Nerve Lesion | Wrist Arthropathy | Fracture Elbow | Dislocations | Fracture, Shoulder | Arthropathy... and other conditions
  • RTI International
    University of North Carolina, Chapel Hill
    Enrolling by invitation
    Parent and Infant Inter(X)Action Intervention (PIXI)
    Tuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis Syndrome
    United States
  • National Human Genome Research Institute (NHGRI)
    Completed
    Study of Heritable Connective Tissue Disorders
    Marfan Syndrome | Connective Tissue Disease | Ehlers Danlos Syndrome | Dissecting Aneurysm | Nail Patella Syndrome
    United States
  • Andres Schanzer
    Recruiting
    Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices (CARPE-CMD)
    Marfan Syndrome | Ehlers-Danlos Syndrome | Aortic Arch Aneurysm | Complex Aortic Aneurysms | Juxtarenal Aneurysms | Loeys-Dietz Syndrome | Thoracoabdominal Aneurysms | Pararenal Aneurysms
    United States
  • Rigshospitalet, Denmark
    Unknown
    Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
    Carbohydrate Metabolism, Inborn Errors | Metabolism, Inborn Errors | Lipid Metabolism, Inborn Errors | Glycogen Storage Disease Type II | Glycogen Storage Disease Type V | VLCAD Deficiency | Glycogen Storage Disease Type III | Phosphoglycerate Kinase Deficiency | Neutral Lipid Storage Disease | Carnitine... and other conditions
    Denmark
  • IRCCS Policlinico S. Donato
    Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
    Completed
    Fatigue, Depressive Disorders and Insomnia in Adult Patients With Marfan Syndrome and Ehlers-Danlos Syndrome: Survey (FAMED)
    Depression | Fatigue | Insomnia | Rare Diseases
    Italy
  • Boston Children's Hospital
    Recruiting
    Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
    Genetic Disease | Chopra-Amiel-Gordon Syndrome | CAGS | ANKRD17
    United States
  • LMU Klinikum
    University of Pisa; German Federal Ministry of Education and Research; European...
    Recruiting
    Global Registry and Natural History Study for Mitochondrial Disorders
    Mitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEO
    Austria, Germany, Italy
  • Golden Jubilee National Hospital
    University of Glasgow; Royal Infirmary of Edinburgh; Aberdeen Royal Infirmary; Network...
    Not yet recruiting
    Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes
    Aortic Valve Insufficiency | Marfan Syndrome | Bicuspid Aortic Valve | Aortic Diseases | Aortic Dissection | Aortic Aneurysm, Thoracic | Ehlers-Danlos Syndrome | Aortic Ectasia | Loeys-Dietz Syndrome
  • University of Colorado, Denver
    Completed
    Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
    Marfan Syndrome | Turner Syndrome | Loeys-Dietz Syndrome | Thoracic Aortic Aneurysm and Dissection Syndromes | Ehlers-Danlos Type IV Syndrome
    United States
  • Sanguine Biosciences
    Completed
    At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
    Depression | 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 conditions
    United States
  • Global Healthy Living Foundation
    University of Alabama at Birmingham
    Recruiting
    PatientSpot Formerly Known as ArthritisPower (GHLF)
    Heart Failure | Stroke | Epilepsy | Multiple Sclerosis | Obesity | Diabetes | Chronic Obstructive Pulmonary Disease | Osteoarthritis | Rheumatoid Arthritis | Parkinson Disease | Peripheral Arterial Disease | Inflammatory Bowel Diseases | Amyotrophic Lateral Sclerosis | Psoriasis | Asthma | Muscular Dystrophy | Fibromyalgia | Alzheimer... and other conditions
    United States
  • National Heart, Lung, and Blood Institute (NHLBI)
    National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
    Completed
    National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)
    Marfan Syndrome | Turner Syndrome | Ehlers-Danlos Syndrome | Loeys-Dietz Syndrome | Shprintzen-Goldberg Syndrome | FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation | Bicuspid Aortic Valve Without Known Family History | Bicuspid Aortic Valve With Family History | Bicuspid Aortic Valve With Coarctation and other conditions
    United States
  • Indiana University
    Recruiting
    Pathogenetic Basis of Aortopathy and Aortic Valve Disease (TAA)
    Aortic Valve Disease | Marfan Syndrome | Bicuspid Aortic Valve | Thoracic Aortic Aneurysm | Thoracic Aortic Dissection | Turner Syndrome | Vascular Ehlers-Danlos Syndrome | Familial Thoracic Aortic Aneurysm and Aortic Dissection | PHACE Syndrome | Aortopathies | Thoracic Aortic Disease | Thoracic Aortic Rupture and other conditions
    United States
  • University of Colorado, Denver
    National Institute on Aging (NIA)
    Active, not recruiting
    Advancing Understanding of Transportation Options (AUTO)
    Stroke | Multiple Sclerosis | Glaucoma | Brain Injuries | Macular Degeneration | Arthritis | Chronic Obstructive Pulmonary Disease | Parkinson Disease | Restless Legs Syndrome | Diabetic Retinopathy | Insomnia | Retinitis Pigmentosa | Obstructive Sleep Apnea | Dementia | End Stage Renal Disease | Sleep Apnea | Syncope | Seizures 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
  • 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
  • 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
  • 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

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