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Myasthenic Syndromes, Congenital

Showing 1 - 25 of 3,512
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Participants With DOK7 Congenital Myasthenic Syndromes (CMS)

Not yet recruiting
  • Congenital Myasthenic Syndrome
    • (no location specified)
    Oct 9, 2023

    Exercise in Autoimmune Myasthenia Gravis and Myasthenic

    Completed
    • Autoimmune Myasthenia Gravis
    • +3 more
      • Paris, France
        Online Questionnaire
      Jun 3, 2022

      Myasthenic Syndromes, Congenital Trial in Durham (3,4-diaminopyridine)

      No longer available
      • Myasthenic Syndromes, Congenital
      • Durham, North Carolina
        Duke University Hospital
      Jan 3, 2022

      Congenital Myasthenic Syndrome Trial in Sacramento (3,4-Diaminopyridine)

      Available
      • Congenital Myasthenic Syndrome
      • Sacramento, California
        University of California, Davis Medical Center
      Apr 18, 2022

      Myasthenic Syndromes, Congenital Trial in United States (amifampridine phosphate, Placebo)

      Completed
      Has Results
      • Myasthenic Syndromes, Congenital
      • amifampridine phosphate
      • Placebo
      • Los Angeles, California
      • +3 more
      Mar 8, 2021

      Baby Detect : Genomic Newborn Screening

      Recruiting
      • Congenital Adrenal Hyperplasia
      • +126 more
        • Liege, Wallonia, Belgium
          CRMN, Hôpital La Citadelle
        Jan 24, 2023

        Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy

        Recruiting
        • Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency
        • +51 more
          • Lakewood, California
            Congenital Muscle Disease International Registry (www.cmdir.org)
          Aug 3, 2021

          Congenital Myasthenic Syndrome Trial in Los Angeles (Amifampridine Phosphate)

          No longer available
          • Congenital Myasthenic Syndrome
          • Amifampridine Phosphate
          • Los Angeles, California
            UCLA
          Dec 5, 2019

          Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenia (CM) Trial in Portland (3,4-diaminopyridine)

          No longer available
          • Lambert-Eaton Myasthenic Syndrome (LEMS)
          • Congenital Myasthenia (CM)
          • Portland, Oregon
            Oregon Health & Science University
          Dec 9, 2019

          Rare Diseases, Congenital Disorders Trial in Roma (voice recordings)

          Not yet recruiting
          • Rare Diseases
          • Congenital Disorders
          • voice recordings
          • Roma, Italy
            Fondazione Policlinico Universitario A. Gemelli Irccs
          Jul 19, 2023

          Knowing and Treating Kosaki/Penttinen Syndromes

          Not yet recruiting
          • Kosaki Overgrowth Syndrome
          • Penttinen Syndrome
            • Dijon, France
              CHU Dijon Bourgogne
            Jul 18, 2023

            Cancer in Inherited Bone Marrow Failure Syndromes

            Recruiting
            • Diamond Blackfan Anemia
            • +4 more
              • Bethesda, Maryland
              • +1 more
              Jan 24, 2023

              Acquired and Inherited Bone Marrow Failure Syndromes

              Recruiting
              • Severe Aplastic Anemia
              • +2 more
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Aug 12, 2022

                Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow

                Recruiting
                • Inherited BMF Syndrome
                • The whole-exome sequencing
                • Sohag, Egypt
                  , Faculty of Medicine, Sohag University
                Jun 28, 2022

                Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

                Not yet recruiting
                • PIK3CA-related Overgrowth Spectrum
                • +8 more
                • national registry
                • Paris, France
                  Translational medicine and Targeted therapies unit, Hôpital Neck
                Sep 28, 2022

                Acquired Aplastic Anemia, Paroxysmal Nocturnal Hemoglobinuria, Inherited Bone Marrow Failure Syndromes Trial in Philadelphia

                Recruiting
                • Acquired Aplastic Anemia
                • +2 more
                • CliniMACs
                • Philadelphia, Pennsylvania
                  Children's Hospital of Philadelphia
                Mar 1, 2022

                Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies Trial run by the

                Not yet recruiting
                • Inherited Bone Marrow Failure Syndrome
                • Familial Platelet Disorder With Predisposition to Myeloid Malignancies
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Oct 20, 2023

                Squamous Cell Carcinoma in Fanconi Anemia

                Recruiting
                • Fanconi Anemia
                • Inherited Bone Marrow Failure Syndrome
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Feb 2, 2023

                  Anomalies of Dense Platelet Granules

                  Active, not recruiting
                  • Spontaneous Induced Unexplained Haemorrhagic
                  • Haemostasis consultation
                  • Standard management of patients suspected of thrombopathy
                  • Paris, France
                    Hôpital Necker Enfants Malades - AP-HP
                  Dec 7, 2022

                  Using Genomics in Inherited Bone Marrow Failure (IBMDx Study)

                  Recruiting
                  • Inherited BMF Syndrome
                  • +2 more
                  • whole genome and transcriptome sequencing
                  • Melbourne, Victoria, Australia
                    Peter MacCallum Cancer Centre
                  Mar 28, 2022

                  Acute Myeloid Leukemia, MDS, Myeloid Malignancies Trial in Boston (Decitabine, Filgrastim)

                  Not yet recruiting
                  • Acute Myeloid Leukemia
                  • +6 more
                  • Boston, Massachusetts
                  • +1 more
                  Mar 31, 2023

                  Natural History of Noncirrhotic Portal Hypertension

                  Recruiting
                  • Cystic Fibrosis
                  • +4 more
                    • Bethesda, Maryland
                      National Institutes of Health Clinical Center
                    Sep 27, 2022

                    Acute Leukemia, Immune Deficiency Disorder, Congenital Hematological Disorder Trial in Rochester (radiation, drug, procedure)

                    Recruiting
                    • Acute Leukemia
                    • +9 more
                    • Total Body Irradiation 1200 cGy
                    • +7 more
                    • Rochester, New York
                      Wilmot Cancer Institute
                    Jun 20, 2022

                    Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

                    Recruiting
                    • Primary Immunodeficiency (PID)
                    • +4 more
                    • data collection
                    • Pittsburgh, Pennsylvania
                      UPMC Children's Hospital of Pittsburgh
                    Feb 9, 2022

                    Dry Eye Disease, Dry Eye, Kerato Conjunctivitis Sicca Trial in Catania (Cross-linked hyaluronic acid eye drops)

                    Recruiting
                    • Dry Eye Disease
                    • +3 more
                    • Cross-linked hyaluronic acid eye drops
                    • Catania, CT, Italy
                      Azienda Ospedaliero-Universitaria Policlinico "G.Rodolico - San
                    Apr 11, 2023