Genómica clínica

A continuación, se enumeran los ensayos clínicos actuales.

Filtra esta lista de estudios por sede, estatus, etc.

1. Nicotinamide Riboside (NR) for Mitochondrial Myopathy Disorder Treatment

   Rochester, Minn.

   This study is a phase II, single-center, randomized, double blind, placebo-controlled trail of the efficacy of Nicotinamide Riboside, in the treatment of adult-onset Mitochondrial Myopathy.

2. AVTX-803 in Patients with Leukocyte Adhesion Deficiency Type II

   Rochester, Minn.

   The purpose of this study is to assess the long-term safety and effectiveness of AVTX-803 in subjects with leukocyte adhesion deficiency Type II (LAD II).  

3. 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.

4. 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.

5. Efficacy and Safety of REC-2282 in Participants with Progressive NF2 Mutated Meningiomas (POPLAR-NF2)

   Rochester, Minn.

   The purpose of this study is to investigate the effectiveness and safety of REC-2282 in patients with progressive NF2 mutated meningiomas who have either NF2 disease-related meningioma or sporadic meningiomas that have NF2 mutations.

    

6. 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.

7. APOL1 Long-term Kidney Transplantation Outcomes Network (APOLLO)

   Scottsdale/Phoenix, Ariz.

   The purpose of this study is to attempt to improve outcomes after kidney transplantation and to improve the safety of living kidney donation based upon variation in the apolipoprotein L1 gene (APOL1). Genes control what is inherited from a family, such as eye color or blood type. Variation in APOL1 can cause kidney disease. African Americans, Afro-Caribbeans, Hispanic Blacks, and Africans are more likely to have the APOL1 gene variants that cause kidney disease. APOLLO will test DNA from kidney donors and recipients of kidney transplants for APOL1 to determine effects on kidney transplant-related outcomes.

8. 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.

9. 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.