Genómica clínica

A continuación, se enumeran los ensayos clínicos actuales.

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

1. 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.

2. 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.

3. 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.