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Hereditary Diseases

Showing 1 - 25 of >10,000

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Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

Active, not recruiting
  • Lung Cancer
  • +3 more
  • Data and Specimen Collection
  • Boston, Massachusetts
  • +1 more
Jan 20, 2023

Genetic Predisposition to Disease, Breast Cancer Female, Ovarian Cancer Trial in Philadelphia (Sequential EHR Communications)

Not yet recruiting
  • Genetic Predisposition to Disease
  • +6 more
  • Sequential EHR Communications
  • Philadelphia, Pennsylvania
    Abramson Cancer Center of the University of Pennsylvania
Feb 8, 2023

Hereditary Diseases, Cholestasis, Intrahepatic Trial (4-Phenylbutyrate)

Not yet recruiting
  • Hereditary Diseases
  • Cholestasis, Intrahepatic
  • (no location specified)
Aug 4, 2022

Alpha Thalassemia Hemoglobin H Constant Spring, Hemoglobinopathies, Hereditary Diseases Trial in Nanning (RM-004)

Recruiting
  • Alpha Thalassemia Hemoglobin H Constant Spring
  • +2 more
  • RM-004
  • Nanning, Guangxi, China
    The 923rd Hospital of Joint Logistics Support Force of People's
Oct 25, 2023

Hereditary Diseases Trial in Flint (African American Family Health History Education Program)

Not yet recruiting
  • Hereditary Diseases
  • African American Family Health History Education Program
  • Flint, Michigan
    Michigan State University
Jan 6, 2023

Biomarker for Friedreich's Ataxia (BioFridA)

Enrolling by invitation
  • FXN Gene
  • +2 more
    • Beirut, Lebanon
      American University of Science and Technology
    Aug 2, 2022

    Hereditary Diseases Trial in Aalborg (Whole genome amplification)

    Recruiting
    • Hereditary Diseases
    • Whole genome amplification
    • Aalborg, Denmark
      Fertility Unit, Aalborg University Hospital
    Jul 7, 2022

    Leber Hereditary Optic Neuropathy (LHON) Trial (NFS-02 Injection)

    Not yet recruiting
    • Leber Hereditary Optic Neuropathy (LHON)
    • NFS-02 Injection
    • (no location specified)
    Apr 6, 2023

    Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder Trial in Boston

    Recruiting
    • Hereditary Spastic Paraplegia
    • +5 more
      • Boston, Massachusetts
        Boston Children's Hospital
      Aug 5, 2022

      Trial

      Not yet recruiting
      • Leber Hereditary Optic Neuropathy (LHON)
      • NR082 Injection
      • Injection needle
      • (no location specified)
      Jan 30, 2023

      Effort Test asTherapeutic Monitoring Tool in Acute

      Completed
      • Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
      • Effort test
      • Functional tests on fibroblasts
      • Paris, France
        Hôpital Necker-Enfants Malades
      Oct 10, 2022

      Embryo Health Study

      Recruiting
      • Infertility
      • Hereditary Diseases
      • Preimplantation Genetic Testing
      • North Brunswick, New Jersey
        Genomic Prediction Clinical Laboratory
      Mar 14, 2022

      Mixed Phenotype Hereditary Transthyretin Amyloidosis

      Not yet recruiting
      • Hereditary Transthyretin Amyloidosis (ATTRv) Cardiomyopathy (CM), Mixed Phenotype
      • (no location specified)
      Dec 8, 2022

      Disease and Visual Disability on Quality of Life and Loss of

      Recruiting
      • Leber's Hereditary Optic Neuropathy (LHON)
        • Orléans, France
          Argo Sante
        Sep 22, 2022

        Muscle Structure, Function and Gait in dHMN

        Recruiting
        • Distal Hereditary Motor Neuropathy, Type II
        • +3 more
        • Carbon Fibre Ankle Foot Orthosis
        • Exercise
        • London, Greater London, United Kingdom
          Queen Square centre for Neuromuscular Diseases
        Jul 5, 2022

        Genetic Analysis of Hereditary Disorders of Hearing and Balance

        Completed
        • Sensorineural Hearing Loss
        • +2 more
          • Bethesda, Maryland
          • +1 more
          Jan 25, 2023

          Cancer, Cardiovascular Diseases, Hereditary Cancer Trial in Philadelphia (e-Health (web-based) disclosure portal, Provider

          Enrolling by invitation
          • Cancer
          • +3 more
          • e-Health (web-based) disclosure portal
          • Provider mediated disclosure
          • Philadelphia, Pennsylvania
            University of Pennsylvania
          Jan 31, 2023

          Natural History Study of Patients With HPDL Mutations

          Recruiting
          • Mitochondrial Encephalomyopathies
          • +6 more
          • Patient Registry
          • Dry blood spots sampling
          • San Diego, California
            Eun Hae Lee
          Apr 28, 2023

          COVID-19 and Hereditary Metabolic Diseases

          Recruiting
          • Covid19
          • Metabolism, Inborn Errors
            • Lille, France
              Hop Claude Huriez Chu Lille
            Feb 28, 2022

            Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease,

            Not yet recruiting
            • Peripheral Neuropathy
            • +2 more
              • (no location specified)
              Nov 23, 2023

              Thyroid Cancer Trial in Boston (•Referral to Genetic Counselor, if indicated)

              Recruiting
              • Thyroid Cancer
              • •Referral to Genetic Counselor, if indicated
              • Boston, Massachusetts
                Dana Farber Cancer Institute
              May 4, 2022

              Serum and Tissue Samples From Biopsy-Proved or Suspected

              Recruiting
              • Malignant Neoplasms
              • +4 more
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Jan 21, 2023

                Hearing and Balance Disorders in Peripheral Neuropathy

                Terminated
                • Charcot-Marie-Tooth Disease
                  • Wilmington, Delaware
                    Nemours
                  Apr 21, 2023

                  Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia Trial in Aktobe (Obtaining Dry Blood Spots From

                  Recruiting
                  • Propionic/Methylmalonic Acidemias
                  • +28 more
                  • Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days)
                  • +5 more
                  • Aktobe, Aktobe Region, Kazakhstan
                    Regional perinatal center of Aktobe region
                  Jun 8, 2023

                  Exome/ Genome Sequencing, Conventional Methods in Rare Diseases

                  Recruiting
                  • Rare Diseases
                  • Genetic Predisposition
                  • Retrospective data analysis
                  • Tübingen, Germany
                    University Hospital Tübingen
                  Nov 3, 2022