1 results match your criteria: "University of Pennsylvania (J.W.R.) - both in Philadelphia.[Affiliation]"
Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.
N Engl J Med
November 2024
From the University of California, San Diego Medical Center, La Jolla (B.G., E.A.); University of Colorado Anschutz Medical Campus, Aurora (M.T.); Boston's Children's Hospital, Harvard Medical School, Boston (S.C.); Rocket Pharmaceuticals, Cranbury, NJ (D.R., P.Y., P.B., G.S., K.P., M.C., S.C.-K., J.D.S.); and Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania (J.W.R.) - both in Philadelphia.
Background: Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by mutations in the lysosomal-associated membrane 2 gene (), which encodes the LAMP2 protein. In male patients, the predominant phenotype is progressive cardiac hypertrophy, cardiac dysfunction, and early death. There are no directed therapies for the disease.
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