You have 9 free searches left this month | for more free features.
Clincosm LogoSign in Get a demo

Pathogenic mutations

Showing 1 - 25 of 3,249
STUDY
CONDITIONS
INTERVENTIONS
LOCATIONS
LAST UPDATED

Retrospective Natural History Study of Retinitis Pigmentosa

Active, not recruiting
  • Retinitis Pigmentosa (RP)
    • Paris, France
      CHNO XV-XX Paris - CIC 1423
    Aug 3, 2021

    Diabete Type 2 Trial in Liège (search for rare pathogenic mutations)

    Recruiting
    • Diabete Type 2
    • search for rare pathogenic mutations
    • Liège, Belgium
      Marjorie Fadeur
    Jan 7, 2021

    Germline Mutations in Pancreatic Adenocarcinoma

    Completed
    • Germline Mutation Abnormality
    • +3 more
    • Mutations
    • Athens, Greece
      Hellenic Oncology Cooperative Group
    Feb 11, 2021

    Metastatic Cancer Trial in United States (Palliative radiotherapy)

    Recruiting
    • Metastatic Cancer
    • Palliative radiotherapy
    • Basking Ridge, New Jersey
    • +6 more
    Sep 22, 2021

    Alport Syndrome Trial in Shanghai (Ramipril)

    Not yet recruiting
    • Alport Syndrome
    • Shanghai, China
      Xinhua Hospital, Shanghai Jiao Tong University School of Medicin
    Nov 23, 2021

    X-Linked Retinitis Pigmentosa Trial (rAAV2tYF-GRK1-hRPGRco)

    Not yet recruiting
    • X-Linked Retinitis Pigmentosa
    • rAAV2tYF-GRK1-hRPGRco
    • (no location specified)
    May 19, 2021

    X-Linked Retinitis Pigmentosa Trial in United States (rAAV2tYF-GRK1-RPGR)

    Recruiting
    • X-Linked Retinitis Pigmentosa
    • rAAV2tYF-GRK1-RPGR
    • Jacksonville, Florida
    • +6 more
    Jul 13, 2021

    Mitochondrial Dysfunctions Driving Insulin Resistance

    Recruiting
    • Mitochondrial Myopathies
    • +2 more
      • Copenhagen, Denmark
        Rigshospitalet
      Oct 16, 2023

      Whole Exome Sequencing in Coronary Artery Ectasia

      Completed
      • Coronary Ectasia
      • Coronary Aneurysm
      • Whole exome sequencing
      • Kraków, Poland
        Department of Coronary Disease and Heart Failure, John Paul II H
      Aug 18, 2023

      Universal- Versus Guidelines-Directed Genetic Testing for

      Recruiting
      • Genetic Predisposition
        • Amman, Jordan
          King Hussein Cancer Center
        Aug 17, 2022

        Universal Genetic Testing Versus Guidelines-Directed Testing for

        Recruiting
        • Breast Cancer
          • Amman, Jordan
            King Hussein Cancer Center
          Aug 17, 2022

          Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders Trial in Copenhagen (High-intensity exercise training)

          Recruiting
          • Mitochondrial Myopathies
          • +2 more
          • High-intensity exercise training
          • Copenhagen, Denmark
            Rigshospitalet
          Oct 16, 2023

          Molecular Characterisation of Appendiceal Cancer

          Not yet recruiting
          • Appendiceal Cancer
          • Retrospective tissue sample analysis
          • (no location specified)
          Aug 22, 2022

          Hereditary Diffuse Gastric Cancer Trial in Paris (Liquid biopsies (blood, gastric fluid).)

          Recruiting
          • Hereditary Diffuse Gastric Cancer
          • Liquid biopsies (blood, gastric fluid).
          • Paris, France
            Hopital Pitié Salpetrière
          Oct 31, 2022

          Amyloidosis, Hereditary Trial in Richmond (Registry)

          Not yet recruiting
          • Amyloidosis, Hereditary
          • Registry
          • Richmond, Virginia
            Virginia Commonwealth University
          Jul 25, 2023

          Human Mitochondrial Stress-driven Obesity Resistance

          Recruiting
          • Mitochondrial Diseases
          • +2 more
            • Copenhagen, Denmark
              Rigshospitalet
            Oct 16, 2023

            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

            Tumor, Tumor, Solid, Metastasis Trial in United States (nab-sirolimus)

            Recruiting
            • Tumor
            • +20 more
            • Mobile, Alabama
            • +81 more
            Jan 24, 2023

            Pro-active Genetic Testing in Kidney Transplant Patients

            Recruiting
            • Kidney Transplant
            • Genetic Health Screen Panel
            • Scottsdale, Arizona
              Mayo Clinic Arizona
            Mar 25, 2022

            Retinitis Pigmentosa Trial in Pittsburgh, Paris (Ophthalmic examinations, Mobility Test)

            Active, not recruiting
            • Retinitis Pigmentosa
            • Ophthalmic examinations
            • Mobility Test
            • Pittsburgh, Pennsylvania
            • +1 more
            Apr 19, 2022

            Genetic Predisposition Testing Program for Pancreatic

            Not yet recruiting
            • Pancreatic Neuroendocrine Neoplasm
            • Hereditary Cancer Panel
            • Los Angeles, California
            • +2 more
            Feb 17, 2023

            MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

            Recruiting
            • Limb Girdle Muscular Dystrophy
            • No intervention
            • Copenhagen, Denmark
              Nanna Scharff Poulsen
            Jan 17, 2023

            Rate of Progression in EYS Related Retinal Degeneration

            Active, not recruiting
            • Retinitis Pigmentosa
            • Eye Diseases
              • San Francisco, California
              • +19 more
              Feb 3, 2022

              Prostatic Tumor, Prostate Cancer, BRCA2 Mutation Trial in Boston (Prostate cancer screening)

              Recruiting
              • Prostatic Neoplasm
              • +7 more
              • Prostate cancer screening
              • Boston, Massachusetts
                Massachusetts General Hospital
              Nov 30, 2021

              Cystinosis, Cystinosis, Nephropathic, Spinal Muscular Atrophy Trial in Germany (molecular-based screening)

              Completed
              • Cystinosis
              • +2 more
              • molecular-based screening
              • Rosenheim, Bavaria, Germany
              • +3 more
              Aug 30, 2023