علم الجينوم السريري

بالأسفل التجارب السريرية الحالية.

غربل قائمة الدراسات هذه بالموقع والحالة وغيرها.

1. Innovative Trial for Understanding the Impact of Targeted Therapies in NF2

   Rochester, Minn.

   The purpose of this study is to test multiple experimental therapies simultaneously in patients with neurofibromatosis type 2 (NF2) with associated progressive tumors of vestibular schwannomas (VS), non-vestibular schwannomas (non-VS), meningiomas, and ependymomas. This Master Study is being conducted as a "basket" study that may allow people with multiple tumor types associated with NF2 to receive new drugs throughout this study. Embedded within the Master Study are individual drug substudies. - Investigational Drug Sub-study A: Brigatinib.

2. Inherited Muscle Diseases Repository

   Rochester, Minn.

   To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.

3. Gemini Study to Evaluate the Integration of Cancer Genetic Testing into a Cancer Clinical Practice at Mayo Clinic at Arizona

   Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

   The purpose of this study is to determine the prevalence of genetic mutations in cancer patients from various ethnic populations seeking care at Mayo Clinic cancer clinics.

4. A Study to Analyze Intracerebral Hemorrhage Hematoma

   Jacksonville, Fla.

   The purpose of this study is to to take the usual waste material from the removal of hematoma and apply an array of -Omics approaches (including for example genomics, transcriptomics, lipidomics, proteomics, and metabolomics) to identify biomarkers that assess prognosis and identify key therapeutic targets.

5. Spatial Profiling of the Zone II (Intrasynovial) Flexor Tendon Fibrotic Niche

   Rochester, Minn.

   The purpose of this study is to compare avian tendon healing spatial biology findings to human intrasynovial tendon tissue spatial gene expression. By correlating findings from our avian tendon repair model to human spatial gene expression findings, a comprehensive spatial molecular atlas or map of the zone II/intrasynovial tendon fibrotic niche could be synthesized. Additionally, by validating the biochemical findings in our avian model, we could further establish this preclinical model as a clinically relevant platform for investigating novel therapeutics to enhance intrinsic healing and mitigate peritendinous adhesions formation following zone II tendon injury.

6. Phase Ib Study of Axatilimab in Combination with Olaparib in BRCA1/2 and PALB2- Associated Metastatic HER2-negative Breast Cancer

   Rochester, Minn.

   This research is being done to evaluate the safety and tolerability of the new drug, axatilimab, in combination with olaparib (a standard of care treatment) in Breast Cancer 1/2 genes (BRCA 1/2) and PALB2 associated HER2-negative metastatic breast cancer. The names of the study drugs involved in this study are: * Axatilimab (a type of antibody) * Olaparib (a type of PARP inhibitor)

7. Development of Skeletal Muscle Fibers from Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

   Rochester, Minn.

   The goal of this study is to create a repository of skin fibroblasts from patients with inherited myopathies or suspected inherited myopathies. The study will optimize the development of skeletal muscle cells from patient induced pluripotent stem cells (iPSCs) and to characterize their morphological, biochemical, electrophysiological and molecular properties. The study will also use skin fibroblasts as source of DNA to investigate for research purpose the genetic defect causing the myopathy, and test in future potentially therapeutic drugs in the iPSC-derived muscle cells.

8. North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

   Rochester, Minn.

   The North American Mitochondrial Disease Consortium (NAMDC)maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.