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mutation carrier

Showing 1 - 25 of 2,943
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Natural History Study - Mitochondrial Disease

Recruiting
  • MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
    • New York, New York
      Columbia University
    Jul 28, 2022

    Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation Trial in United States (drug, diagnostic test, other)

    Recruiting
    • Pancreas Cancer
    • +4 more
    • New Haven, Connecticut
    • +7 more
    Dec 12, 2022

    BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma in Situ Trial in Los Angeles (dietary supplement, other,

    Active, not recruiting
    • BRCA1 Mutation Carrier
    • +8 more
    • soy isoflavones
    • +7 more
    • Los Angeles, California
      University of Southern California
    Nov 11, 2021

    Clinical Phenotypic Characteristics of SC26A4

    Recruiting
    • Hearing Loss
    • Pendred Syndrome
      • Beijing, Beijing, China
        Chinese PLA General Hospital
      Jul 24, 2023

      Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome Trial in United States (Genetic Counseling, Genetic Testing,

      Active, not recruiting
      • Endometrial Adenocarcinoma
      • +3 more
      • Genetic Counseling
      • +3 more
      • Akron, Ohio
      • +8 more
      Dec 2, 2022

      Alzheimer's Disease Trial in Colombia (Crenezumab, Placebo)

      Active, not recruiting
      • Alzheimer's Disease
      • Armenia, Colombia
      • +3 more
      Nov 21, 2022

      Breast Cancer, Hereditary Breast and Ovarian Cancer Trial in United States

      Recruiting
      • Breast Cancer
      • Hereditary Breast and Ovarian Cancer
        • Hays, Kansas
        • +12 more
        Apr 4, 2022

        Acute Myeloid Leukemia, Myelodysplastic Syndrome Trial (Azacitidine, Biospecimen Collection, Bone Marrow Aspiration)

        Not yet recruiting
        • Acute Myeloid Leukemia
        • Myelodysplastic Syndrome
        • (no location specified)
        Jan 13, 2023

        Patients With Peroxisome Biogenesis Disorders (PBD)

        Recruiting
        • Peroxisome Biogenesis Disorder
        • +10 more
          • Montreal, Quebec, Canada
            Research Institute of the McGill University Health Center
          Jul 4, 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

          Digital Genetic Counselor for BRCA1/2 Mutation Carrier Testing

          Unknown status
          • BRCA Mutations
            • (no location specified)
            Jan 29, 2020

            Amyloid Neuropathies, Transthyretin Amyloidosis Trial in Marseille (Electrophysiological biomarkers, MRI biomarkers)

            Completed
            • Amyloid Neuropathies
            • Transthyretin Amyloidosis
            • Electrophysiological biomarkers
            • MRI biomarkers
            • Marseille, Paca, France
              Assistance Publique Des Hopitaux de Marseille
            Oct 2, 2022

            Hereditary Spastic Paraplegia, Hereditary, Spastic Paraplegia, Autosomal Dominant Trial in Tübingen (other, behavioral,

            Recruiting
            • Hereditary Spastic Paraplegia
            • Hereditary, Spastic Paraplegia, Autosomal Dominant
            • SPRS Score and clinical signs
            • +6 more
            • Tübingen, Germany
              University Hospital Tübingen, Center for Neurology
            Aug 18, 2022

            Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

            Completed
            • Li-Fraumeni Syndrome
            • Whole body MRI
            • Psychological questionnaires
            • Sutton, Surrey, United Kingdom
              Cancer Genetics Unit, Royal Marsden Hospital
            Mar 30, 2022

            Biomarker Monitoring in TP53 Mutation Carriers

            Completed
            • Li-Fraumeni Syndrome
            • +2 more
              • La Jolla, California
                Scripps Clinic Medical Group
              Sep 17, 2019

              Obesity, Child Trial (sequencing of a panel of 14 genes in leptin melanocortin pathway)

              Not yet recruiting
              • Obesity, Child
              • sequencing of a panel of 14 genes in leptin melanocortin pathway
              • (no location specified)
              Jul 3, 2023

              Pancreatic Ductal Adenocarcinoma Trial in Israel, United States (The risk assessment questionnaire, Blood specimens, tumor

              Recruiting
              • Pancreatic Ductal Adenocarcinoma
              • The risk assessment questionnaire
              • +2 more
              • Basking Ridge, New Jersey
              • +12 more
              Dec 22, 2022

              ANXA5 M2 Haplotyping in IVF Patients and Embryos

              Recruiting
              • Infertility
              • +2 more
              • M2 Test
              • North Brunswick, New Jersey
                Genomic Prediction Clinical Laboratory
              Aug 1, 2022

              Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and

              Recruiting
              • Hereditary Breast and Ovarian Cancer
              • Lynch Syndrome
              • CASCADE genetic screening
              • Delémont, Jura, Switzerland
              • +8 more
              May 18, 2022

              BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma In Situ Trial in West Hollywood, Chicago, New York

              Unknown status
              • BRCA1 Mutation Carrier
              • +8 more
              • Telapristone Acetate
              • +3 more
              • West Hollywood, California
              • +2 more
              Aug 16, 2019

              Pancreas Cancer Trial

              Completed
              • Pancreas Cancer
                • (no location specified)
                May 11, 2022

                Prostate Cancer Trial in Toronto (MS3TMRI / TRUS Guided Biopsy)

                Recruiting
                • Prostate Cancer
                • MS3TMRI / TRUS Guided Biopsy
                • Toronto, Ontario, Canada
                  Sunnybrook Odette Cancer Centre
                May 5, 2022

                Eardream Data Collection in Colombia Supported by ADDF

                Recruiting
                • Alzheimer Disease, Early Onset
                • This is an observational study
                • Medellín, Colombia
                  Fundacion Universitaria de Antioquia
                Oct 5, 2022

                BRCA and NACT in TNBC Patients

                Completed
                • Triple-Negative Breast Cancer
                • BRCA1/2 genetic testing
                • Rome, RM, Italy
                  Fondazione Policlinico Universitario Agostino Gemelli IRCCS
                Feb 20, 2023

                Hereditary Cancer, Breast Cancer, Ovarian Cancer Trial in Switzerland (Adapted Family Gene Toolkit, Targeted intervention)

                Recruiting
                • Hereditary Cancer
                • +2 more
                • Adapted Family Gene Toolkit
                • Targeted intervention
                • Delémont, Jura, Switzerland
                • +7 more
                Nov 12, 2022