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nonsense mutations

Showing 1 - 25 of 2,517
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Epidermolysis Bullosa Trial in Oslo (Gentamicin Sulfate)

Completed
  • Epidermolysis Bullosa
  • Gentamicin Sulfate
  • Oslo, Norway
    Oslo University Hospital
May 1, 2022

Correction of Nonsense Mutations in Cystic Fibrosis

Recruiting
  • Cystic Fibrosis
  • smear of nasal fossae
  • Amiens, France
  • +7 more
Nov 17, 2020

Recessive Dystrophic Epidermolysis Bullosa Trial in Los Angeles (Gentamicin)

Unknown status
  • Recessive Dystrophic Epidermolysis Bullosa
  • Los Angeles, California
    University of Southern California
Nov 2, 2020

Ivermectin Neurotoxicity and ABCB1 Gene Mutations

Completed
  • DNA Sequencing
    • Montpellier, France
      Uh Montpellier
    Sep 1, 2020

    Junctional Epidermolysis Bullosa Trial in Los Angeles (Gentamicin Sulfate)

    Recruiting
    • Junctional Epidermolysis Bullosa
    • Gentamicin Sulfate
    • Los Angeles, California
      University of Southern California
    Apr 3, 2020

    Genetic Disease, Nonsense Mutation, Cystinosis Trial in Montréal (ELX-02)

    Terminated
    • Genetic Disease
    • +2 more
    • Montréal, Quebec, Canada
      McGill University Health Center
    May 22, 2020

    Alport Syndrome Trial in Clayton, Parkville, London (ELX-02)

    Recruiting
    • Alport Syndrome
    • Clayton, Victoria, Australia
    • +3 more
    Dec 19, 2022

    Duchenne Muscular Dystrophy Trial in Canada, United States (Ataluren)

    Enrolling by invitation
    • Duchenne Muscular Dystrophy
    • Phoenix, Arizona
    • +32 more
    Jan 31, 2023

    Genetic Diseases, Nonsense Mutations Trial (ELX-02, Placebo)

    Terminated
    • Genetic Diseases
    • Nonsense Mutations
    • (no location specified)
    Oct 19, 2019

    Cystic Fibrosis Trial in Birmingham (Ivacaftor/Ataluren)

    Completed
    Has Results
    • Cystic Fibrosis
    • Birmingham, Alabama
      University of Alabama at Birmingham
    Jun 24, 2019

    Recessive Dystrophic Epidermolysis Bullosa Trial in Los Angeles (Gentamicin Sulfate)

    Completed
    Has Results
    • Recessive Dystrophic Epidermolysis Bullosa
    • Gentamicin Sulfate
    • Los Angeles, California
      University of Southern California
    Jul 22, 2019

    Cystic Fibrosis Trial in Australia, Germany, Israel (ELX-02, Ivacaftor)

    Recruiting
    • Cystic Fibrosis
    • Camperdown, New South Whales, Australia
    • +8 more
    Feb 15, 2022

    Cystic Fibrosis Trial in Canada, United States (ELX-02, Ivacaftor)

    Recruiting
    • Cystic Fibrosis
    • Long Beach, California
    • +9 more
    Feb 15, 2022

    Syndromic Obesity: Identifying New Candidate Genes by Exome

    Completed
    • Syndromic Obesity
      • Paris, France
        Gastroentérologie et Nutrition Pédiatriques , Hôpital Trousseau
      Jun 3, 2022

      Advanced Malignant Solid Tumor, Locally Advanced Malignant Solid Tumor Trial (drug, procedure, biological)

      Not yet recruiting
      • Advanced Malignant Solid Neoplasm
      • Locally Advanced Malignant Solid Neoplasm
      • (no location specified)
      Dec 2, 2022

      Molecular Basis of Congenital Heart Defects

      Withdrawn
      • Congenital Heart Defects
        • Orange, California
          Taosheng Huang
        Jan 22, 2021

        Congenital Central Hypoventilation Syndrome, Congenital Central Hypoventilation, CCHS Trial in United States (NIH Toolbox

        Recruiting
        • Congenital Central Hypoventilation Syndrome
        • +5 more
        • NIH Toolbox Cognition Battery
        • Los Angeles, California
        • +3 more
        Aug 18, 2022

        Biomarker for Duchenne Muscular Dystrophy

        Completed
        • Increased Lordosis/Scoliosis
        • +7 more
          • Tirana, Albania
          • +11 more
          Mar 23, 2022

          Amino Acid Metabolism, Inborn Errors Trial in Worldwide (Ataluren)

          Terminated
          Has Results
          • Amino Acid Metabolism, Inborn Errors
          • Antwerp, Belgium
          • +8 more
          Jun 22, 2020

          Hemophilia A, Hemophilia B Trial in Worldwide (Ataluren)

          Terminated
          Has Results
          • Hemophilia A
          • Hemophilia B
          • Peoria, Illinois
          • +12 more
          May 28, 2020

          Hereditary Hypotrichosis Simplex Trial (Gentamicin Sulfate)

          Unknown status
          • Hereditary Hypotrichosis Simplex
          • Gentamicin Sulfate
          • (no location specified)
          Apr 8, 2018

          Type 3 Von Willebrand International Registries Inhibitor

          Active, not recruiting
          Has Results
          • Type 3 Von Willebrand's Disease
          • Von Willebrand Factor
          • Helsinki, Finland
          • +24 more
          Mar 21, 2022

          Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy Trial in Worldwide (Ataluren)

          Completed
          Has Results
          • Duchenne Muscular Dystrophy
          • +2 more
          • Parkville, Melbourne, Australia
          • +20 more
          Nov 3, 2020

          Diagnosis and Treatment Management of Rare Neurological Disease

          Withdrawn
          • Xlsma
          • +3 more
            • Shanghai, China
              Children's Hospital of Fudan University
            Aug 4, 2021

            Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

            Recruiting
            • Retinitis Pigmentosa
            • +4 more
              • San Francisco, California
              • +4 more
              Oct 5, 2022