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, 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 Appointments & Affiliations
Recent Publications
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.
Journal Article Mol Genet Metab Rep · December 2024 Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left untreat ... Full text Link to item CiteIOPD entering adulthood: Lessons from two decades of ERT experience
Conference Molecular Genetics and Metabolism · February 2024 Full text CiteExperience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
Conference Molecular Genetics and Metabolism · February 2024 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 - 2022Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialPhysical Therapist · Awarded by Genzyme Corporation · 2019 - 2021View All Grants