Biography

Dr. Clemens is a Professor of Neurology, Microbiology and Molecular Genetics, and Human Genetics at the University of Pittsburgh, Chief of the Neurology Service at Pittsburgh VA Healthcare System, and Medical Director for the Cooperative International Neuromuscular Research Group (CINRG). 

Dr. Clemens is an adult neurologist who is internationally recognized for her scientific expertise in translational research understanding pathophysiology and developing therapies for skeletal muscle disorders caused by single gene mutations (eg. Duchenne muscular dystrophy (DMD), late-onset Pompe disease). She has published widely on the pathophysiology of dystrophic, atrophic and immune-mediated changes in skeletal muscle. Based on novel observations, her laboratory team developed, tested and published adenoviral and AAV therapies in mouse models of muscular dystrophy.

Dr. Clemens led a successful registration study for treatment of exon 53 skip-amenable patients with DMD that led to a novel, FDA-approved morpholino-based exon 53 skipping therapy. She played a key role in this accomplishment from idea conception, through study design, study conduct leadership, data analysis, publication, and approval of viltolarsen by FDA and PMDA (new drug regulatory body in Japan). She continues to work with the drug development of exon skipping approaches for DMD with the sponsor. In addition to her human clinical work in morpholino-based genetic therapy for DMD, Dr. Clemens co-led an NIH-sponsored Center for Research Translation, entitled ‘Center for Research Translation of Systemic Exon-skipping in Muscular Dystrophy (1P50AR060836-01).

Dr. Clemens led the Cooperative International Neuromuscular Research Group (CINRG) as Medical Director from 2010-2023. She has chaired several multi-site studies conducted by the CINRG network, including one of the only longitudinal natural history studies of Becker muscular dystrophy (BMD) and a series of treatment studies of a novel steroid for the treatment of DMD and BMD.

Dr. Clemens led research at one of 5 sites worldwide resulting in FDA approval of the first recombinant enzyme treatment for late-onset Pompe disease. She is involved in the major studies that are producing the next generation of recombinant enzyme therapy for this disorder. She advised Spark Therapeutics on there AAV gene therapy study design for the treatment of late-onset Pompe and leads a study site in the trial enrolling participants treated with AAV gene transfer targeting the liver to deliver the gene for a secretable form of acid alpha glucosidase enzyme. She serves on the North American Board for the Pompe Registry.