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
IOPD entering adulthood: Lessons from two decades of ERT experience
Conference Molecular Genetics and Metabolism · February 2024 Full text CiteReal-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Journal Article Front Genet · 2024 Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enz ... Full text Link to item CiteMuscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Journal Article Mol Genet Metab Rep · September 2023 IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has ident ... Full text Link to item CiteRecent Grants
Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialPhysical Therapist · Awarded by Genzyme Corporation · 2022 - 2025Developing 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