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pathogenic gene

Showing 1 - 25 of 6,751
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Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC Trial (LX2020)

Not yet recruiting
  • Arrhythmogenic Cardiomyopathy
  • +2 more
  • LX2020
  • (no location specified)
Oct 25, 2023

Universal- Versus Guidelines-Directed Genetic Testing for

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

    Follow-up Study on Female Carriers With DMD Gene Variants

    Not yet recruiting
    • Muscular Dystrophy
    • +2 more
    • No intervention
    • Copenhagen, Denmark
      Copenhagen neuromuscular center
    Feb 7, 2023

    Patients With G2019S LRRK2 Parkinson's Disease

    Suspended
    • Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
    • Observational
    • Culver City, California
      Science 37
    Aug 15, 2022

    Prognosis Study of Renal Transplantation in Children

    Completed
    • Kidney Failure
    • molecular diagnosis
    • Shanghai, Shanghai, China
      Children's hospital of Fudan university
    Jan 4, 2022

    Cancer, Cancer Metastatic, BRAF V600E Trial in Indianapolis (Abemaciclib, LY3214996)

    Recruiting
    • Cancer
    • +6 more
    • Indianapolis, Indiana
      Indiana University Hospital / IU Simon Cancer Center
    Jan 12, 2023

    Pathogenic Germline Gene Variants of Colorectal Polyposis in

    Recruiting
    • Colorectal Polyposis
    • germline variants
    • Beijing, Beijing, China
    • +4 more
    Jul 14, 2021

    Genital Diseases, Female Trial in Paris, Toulouse (Pelvic ultrasound, blood sample)

    Not yet recruiting
    • Genital Diseases, Female
    • Pelvic ultrasound
    • blood sample
    • Paris, France
    • +2 more
    Feb 4, 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

    Parkinson's Disease Trial in Worldwide (BIA 28-6156 10 mg, BIA 28-6156 60 mg, Placebo)

    Recruiting
    • Parkinson's Disease
    • BIA 28-6156 10 mg
    • +2 more
    • Los Angeles, California
    • +73 more
    Apr 18, 2023

    Aniridia Trial (Tear collection)

    Not yet recruiting
    • Aniridia
    • Tear collection
    • (no location specified)
    Sep 29, 2022

    MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

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

    Gene Mutation Spectrum of Malignant Hyperthermia in China

    Recruiting
    • Malignant Hyperthermia
    • gene sequencing
    • Chengdu, Sichuan, China
      West China Hospital, Sichuan University
    Nov 9, 2021

    Cancer in Inherited Bone Marrow Failure Syndromes

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

      Inherited Cancer Syndrome, Prostate Cancer, Colorectal Cancer Trial in Nashville (Correlative Studies (Survey), Correlative

      Not yet recruiting
      • Inherited Cancer Syndrome
      • +4 more
      • Correlative Studies (Survey)
      • +4 more
      • Nashville, Tennessee
        Vanderbilt-Ingram Cancer Center
      Jul 5, 2022

      Mitochondrial Dysfunctions Driving Insulin Resistance

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

        Amyloidosis, Hereditary Trial in Richmond (Registry)

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

        Decoding the Genetic Landscape of Skeletal Diseases

        Recruiting
        • Genetic Skeletal Diseases
        • +3 more
          • Stockholm, Sweden
            Karolinska University Hospital
          May 16, 2023

          Pigmentary; Dermatosis Trial (Blood sample, Cutaneous biopsy, High troughput sequencing of human's exome)

          Not yet recruiting
          • Pigmentary; Dermatosis
          • Blood sample
          • +2 more
          • (no location specified)
          Oct 3, 2023

          Protection Response to Cellular Stress in BPAN's Patient Study

          Not yet recruiting
          • Children and Adults With BPAN Carrying Pathogenic Variants of WDR45
          • BPAN Patients
          • Bron, France
            Service de génétique - Laboratoire de Biologie Médicale Multi-Si
          Jul 13, 2023

          Her-2 Negative Breast Cancer, HRR Gene Mutation Trial in Guangzhou (Camrelizumab, Fluzoparib, Nab-paclitaxel)

          Recruiting
          • Her-2 Negative Breast Cancer
          • HRR Gene Mutation
          • Guangzhou, Guangdong, China
            First Affiliated Hospital, Sun Yat-Sen University
          Mar 7, 2023

          3 Year Follow up on ANO5 Patients

          Active, not recruiting
          • Neuromuscular Diseases
          • Limb Girdle Muscular Dystrophy
          • No intervention - pure observational study
          • Copenhagen, Region Hovedstaden, Denmark
            Copenhagen Neuromuscular Center
          Jan 25, 2022

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

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

          SMA Trial in Worldwide (Onasemnogene Abeparvovec-xioi)

          Completed
          Has Results
          • SMA
          • Onasemnogene Abeparvovec-xioi
          • Ghent, Belgium
          • +9 more
          Aug 12, 2022