Faculty in Focus - Laura Case, PT, DPT, MS, PhD, PCS, C/NDT


Laura Case, PT, DPT, MS, PhD, PCS, C/NDT, is an associate professor of Orthopaedic Surgery and a core faculty member in the Duke Doctor of Physical Therapy program.

Laura Case grew up knowing that she wanted to work with children and when she discovered physical therapy, it was the perfect fit, combining the intellectual challenge of science with the emotional depth of seeking answers for children.

After graduation, she drove from New York straight to Seattle to work with the best in her field.  But after eight years of full-time clinical practice, the questions she found herself pondering became more and more scientific. “They were questions about the “whys”, and they were becoming more complex to answer,” she explains.

Understanding the "Whys"

As a young clinician, she became driven to better understand the “whys” herself and to find more comprehensive answers for patients and their families.  She enrolled in an advanced master’s program at UNC Chapel Hill while continuing to work clinically.  This move kicked off her 30-year journey into teaching, treating, and researching childhood-onset neuromusculoskeletal disorders such as cerebral palsy, traumatic brain injury, Duchenne muscular dystrophy, spinal muscular atrophy, Pompe disease, myelodysplasia, juvenile rheumatoid arthritis, and brachial plexus injury.

Dr. Case has been on groundbreaking teams that have developed six disease-modifying treatments for genetically based neuromuscular disorders including, Pompe disease, Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and hypophosphatasia (HPP). Many were the first of their kind because they effectively change the underlying genetically based mechanism of the disease(s).  

She serves as a clinical evaluator for the Cooperative International Neuromuscular Research Group (CINRG), a leader in the development of outcomes measures in neuromuscular disorders, providing a clinical network for support of clinical trials in neuromuscular disorders. She has helped develop international guidelines for managing Duchenne muscular dystrophy, Pompe disease, and other glycogen storage diseases. 

The Groundbreaking Duke Pompe Disease Team 

In 1999, Dr. Case joined pediatric medical geneticists Y.T. Chen MD, PhD, and Priya Kishnani, MD, on the Pompe team at Duke, and has been the lead physical therapist for 25 years on the ground-breaking Duke team, focused on research and treatment for people with Pompe disease, a rare genetically based metabolic disorder which damages muscle and nerve cells throughout the body.

“Dr. Chen had been working with children with Pompe disease in the clinic when the life expectancy of those with infantile-onset Pompe disease was under 2 years of age, characterized by profound, progressive weakness preventing sitting, walking, and survival.  He went to the funeral of a child that he had been working with and on the way home, said ‘we have to fix this’. You know, a lot of people say that, but how many people do you know that actually do it?” she asked.

Dr. Chen subsequently worked for years with Japanese quails, which can also have Pompe disease, to engineer a life-saving cell line that makes acid alpha-glucosidase (GAA) allowing replacement of the missing enzyme. When human trials followed, Dr. Case began working alongside Dr. Chen and Dr. Kishani to document the progress of the three children in the first GAA trial.

In 2006, the FDA approved Myozyme, life-saving enzyme replacement therapy (ERT) for the treatment of Pompe disease and Pompe was later added to newborn screening (NBS), allowing early diagnosis and treatment. The Duke team is credited around the world with advancing the detection and treatment of Pompe.

“I have followed hundreds of children since they were infants, including the children in Duke’s early enzyme trials for Pompe, some of whom have recently graduated from college,” she said, adding that she is especially proud of her work in the early identification of motor features of Pompe disease, supporting earlier treatment in all types of Pompe, and her work with others in supporting comprehensive, anticipatory, preventative management across the lifespan for children with chronic neurological and neuromuscular conditions.

Updating Protocols for Treating Pompe

"My more recent work has focused on those with late-onset Pompe disease (LOPD), now identified by NBS, who, in the past, likely had subtle symptoms of Pompe their whole lives but were slow to be diagnosed, with NBS now allowing study of the evolution of Pompe across the lifespan, with early identification of symptoms in infancy and childhood for earlier treatment. 

"As we better understand the changing natural history of Pompe disease on ERT, and as NBS allows earlier identification of symptoms in all types of Pompe, this helps in informing decisions about initiation and dosing of ERT, and providing guidelines and a framework for anticipatory, comprehensive, preventative management of Pompe," she said.

Treating Children Over Four Decades

Dr. Case reports that she keeps in touch with many children and families she has worked with over her 40+ year career, proud to hear of their success as adults.  Quite often, she gets phone calls from parents and loved ones of patients from around the world, as well as from other PTs, collaborating on ways to help the children.

“In working closely with patients (and families) with childhood-onset chronic disorders, you have to have a certain mindset – you have to be in it for the long haul,” she explains. “To me, it is, of course, exciting to help someone learn how to walk – I love it … but it is just as exciting to slow the rate of clinical progression of a disorder, minimize secondary problems, and help maintain function -  this improves the quality of life and allows the person to be who they want to be, to be who they should be – and this, to me, is just as exciting as helping someone learn how to walk.”

“I love following children over time because I love to see them thrive. The children I have worked with are just amazing.  I work with many high-achieving children who you wouldn’t necessarily think would be able to accomplish all that they have, but then, they do. Each child has something precious to offer to the world, which should be valued and nurtured” she said while sitting in her office, next to a bulletin board filled with more than a hundred photos filled with young, smiling faces.

The Duke Difference 

“What is exciting to me is the combination of things that I get to do and the wonderful teams I have been able to work with at Duke.  I am in the clinic treating children, and I get to teach (our DPT) students about treating children, and doing research about how to help children even more,” she said. “The trio of treatment, teaching, and research; I love how these things dovetail.  Because each area makes the others grow, and I get to see both the children and the students grow and thrive.”

When not working, Dr. Case enjoys reading, gardening, and traveling, exploring some of the most beautiful places on earth.

"My family and the values and vision of hope that they gave me bring me joy, as well as a wealth of precious memories over the years. My friends and colleagues also bring me joy," she said. “I have been extraordinarily lucky to have had so many good people in my life."