Overview
Laura E Case, PT, DPT, MS, PhD, PCS, C/NDT is a board-certified clinical specialist in pediatric physical therapy. She has dedicated her career to teaching and research in childhood-onset neuromusculoskeletal disorders, and to the lifelong treatment of people with childhood-onset neurological and neuromuscular disorders such as cerebral palsy, traumatic brain injury, Duchenne muscular dystrophy, spinal muscular atrophy, Pompe disease, myelodysplasia, juvenile rheumatoid arthritis, and brachial plexus injury.
She has been involved in numerous clinical trials for the treatment of disorders including Pompe disease and other metabolic disorders, cerebral palsy, Duchenne muscular dystrophy, and spinal muscular atrophy. Dr. Case has participated in the development of international guidelines for the management of Duchenne muscular dystrophy, Pompe disease, and other glycogen storage diseases.
She teaches and consults internationally, has worked on a number of Center for Disease Control (CDC) task forces, has served on numerous committees and task forces in the pediatric section of APTA, served two terms as NC State Representative to the APTA Section on Pediatrics, and is a member of the North American Pompe Registry Board of Advisors.
Current Duke Appointments & Affiliations
Recent Scholarly Works
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.
Journal article Mol Genet Metab · June 2026 OBJECTIVE: Newborn screening (NBS) now allows for early detection and clinical monitoring in infants and children with late-onset Pompe disease (LOPD), potentially identifying those needing early enzyme replacement therapy (ERT). Early symptom onset has be ... Full text Link to item CiteLessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Journal article Mol Genet Metab · April 2026 CONTEXT: Late-onset Pompe disease (LOPD) is a lysosomal disease characterized by progressive weakness primarily in skeletal and respiratory muscles with symptom onset ranging from infancy to adulthood. The distinguishing feature between infantile-onset Pom ... Full text Link to item CiteEarly enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening
Conference Molecular Genetics and Metabolism · February 2026 Full text CiteRecent Grants
Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialPhysical Therapist · Awarded by Genzyme Corporation · 2022 - 2030Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening
ResearchInvestigator · Awarded by Amicus Therapeutics Corporation · 2018 - 2022Electrical Impedance Myography and Muscle Ultrasound: Longitudinal Measures in Pompe Disease
Clinical TrialInvestigator · Awarded by Genzyme Corporation · 2016 - 2021View All Grants