Neuromuscular Diseases

The Neuromuscular Division provides care for neuromuscular patients including those seen in the affiliated Muscular Dystrophy Association Clinic and MDA-ALS Center (UPMC-Presbyterian campus).

David Lacomis, MD, division chief, directs multiple multicenter studies of Amyotrophic Lateral Sclerosis, aka Lou Gehrig’s disease. These include studies of serial blood; spinal fluid and electrodiagnostic biomarkers and DNA banking, gene discovery and genomic translation for ALS care; and effects of levosimendan on respiratory function.

Paula R. Clemens, MD, actively conducts a research program with an emphasis on human clinical research for drug development and clinical trial readiness for muscular dystrophies. Dr. Clemens has previously been the Study Chair for two major clinical trials: a multi-site program testing a first-in-class steroid for treatment of patients with Duchenne and Becker muscular dystrophies, and for an exon 53 skipping drug clinical trial that provided the pivotal data resulting in drug approval by FDA and PMDA using the accelerated approval pathway. Additionally, she’s involved in human clinical research testing enzyme replacement therapy, chaperone small molecule therapy and adeno-associated viral vector-delivered gene replacement therapy for patients with late onset Pompe disease. Dr. Clemens directs the University of Pittsburgh NeuroNEXT clinical study site (funded by NINDS) and pursues pre-clinical, translational research in collaboration with Dr. Dana Ascherman (Rheumatology), studying an animal model of inflammatory myopathy.

The division trains in clinical neurophysiology in one of two fellowships and provides electrodiagnostic services (electromyography and autonomic testing) at UPMC-Presbyterian and UPMC-Shadyside.