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Pompe Disease Clinical and Research Program

Dedicated to the holistic, bench-to-bedside approach to diagnosis, management, and treatment of individuals with Pompe disease.

pompe_clinic.jpgWhat is Pompe? (pronounced "pom-pay")
Pompe disease is an inherited and often fatal disorder caused by the deficiency of acid alpha-glucosidase (GAA), an enzyme needed to break down glycogen (sugar that is stored for energy) in specialized structures in our body, called lysosomes. Patients with Pompe disease have little or no GAA enzyme activity and cannot break down glycogen. The excess glycogen accumulates and is stored in the heart, skeletal muscle and other tissues, causing the progressive symptoms of Pompe disease.

Other names for Pompe disease:

  • Acid Maltase Deficiency
  • Glycogen Storage Disease Type II
  • Glycogenosis Type II
  • Acid alpha-Glucosidase Deficiency
  • Lysosomal alpha-Glucosidase Deficiency

We've come a long way in our understanding of Pompe disease, but there remains a great deal of unfinished work. I am humbled and honored to be a part of this process.

--Priya Kishnani, MD

What are the symptoms?
Pompe disease is classified based on age of onset, severity, and rate of progression.

Classic infantile-onset Pompe disease (symptoms present in the first month of life)

  • Hypotonia or generalized muscle weakness
  • Delayed gross motor development
  • Feeding difficulties
  • Failure to thrive
  • Respiratory distress
  • Hearing difficulties
  • Normal intelligence

Without treatment with enzyme replacement therapy (ERT), there is progressive cardiomegaly (enlarged heart) or hypertrophic cardiomyopathy (thickened heart muscle), which ultimately results in cardiopulmonary insufficiency.

Late onset Pompe disease (symptoms present in childhood or later)

  • Progressive muscle weakness mostly affecting lower limbs with positive Gower sign
  • Shortness of breath, exercise intolerance, respiratory insufficiency, and increased respiratory infections
  • Sleep apnea
  • Hyperlordosis (swayback) and/or scoliosis (curvature of the spine)
  • Hepatomegaly (liver enlargement)
  • Macroglossia (tongue enlargement) with difficulty chewing and swallowing
  • Decreased deep tendon reflexes
  • Joint contractures
  • Cardiac hypertrophy (thickened heart muscle)

How is Pompe disease diagnosed?

GAA activity assay for the diagnosis of Pompe disease can be performed in various tissues. Glycogen content can be measured in muscle biopsy samples to support the diagnosis. Prenatal testing is available on CVS samples and cultured amniocytes. Enzyme testing is not appropriate for carrier testing. Carrier testing and prenatal testing are available if the familial mutations have been previously identified.   

The following tests are currently available:

  • Enzyme assays for acid alpha-glucosidase (GAA) in blood, cultured skin fibroblasts, muscle, and cultured amniocytes, and chorionic villi
  • GAA gene sequencing
  • Urinary hexose tetrasaccharide (Hex4), a marker of disease burden in Pompe disease that can be used to monitor patients with Pompe disease and as a second tier diagnostic test
  • Analysis of Cross Reactive Immunological Material (CRIM status)


Visit GSDII Testing or contact the Glycogen Storage Disease Laboratory for more information:

Biochemical Genetics Laboratory
Glycogen Storage Disease Laboratory
DUHS Clinical Laboratories
801 Capitola Drive, Suite 6
Durham, NC 27713
Tel: 919-549-0445
Fax: 919-549-0709


For me, as a doctor, diagnosing the disease wasn't enough, I wanted to treat it.

--Y.T. Chen, MD, PhD

The Duke Pompe Disease Clinical and Research Program follows a systematic and multidisciplinary management and treatment of patients with Pompe disease across the clinical spectrum, as recommended in the Pompe Disease Diagnosis and Management Guidelines. Our physicians and staff proudly serve a broad, international patient population, providing clinical care and consultation to individuals with Pompe disease and their attending physicians, worldwide.

The Duke Pompe Disease Clinical and Research Program offers infusions with enzyme replacement therapy (ERT)—a treatment that provides a genetically engineered form of the GAA enzyme to replace the deficient or absent enzyme in the patient’s blood. The concept of ERT was developed by DUMC researchers, then clinical trials at Duke demonstrated benefit for patients with infantile Pompe—reduction of glycogen storage, decreased heart size and normal function, and improved muscle tone. The drug alglucosidase alfa in the form of Myozyme© received FDA approval 4/28/2006 for infantile Pompe, followed by FDA approval of Lumizyme© in 2010 for children and adults with late-onset Pompe disease.

To learn more about Duke's groundbreaking research and how this lifesaving treatment was created, please browse our Related Articles and Publications.

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We uphold an ongoing commitment to individuals with Pompe disease and their families. Through translational research initiatives, we continually strive to achieve earlier diagnoses, to enhance therapy and treatment methods, to improve patient and family quality of life, and to maximize day-to-day abilities for individuals living with Pompe disease.  Our team coordinates several ongoing clinical trials and research initiatives in order to:

  • Increase medical knowledge in order to promote early diagnosis and treatment
  • Understand the natural history and progression of symptoms across the disease spectrum
  • Determine the effectiveness of ERT with attention to multisystemic disease manifestations
  • Develop biomarkers as non-invasive surveillance of disease
  • Evaluate the role of immune response in Pompe disease and explore preventative measures
  • Study the effects of immune modulation in individuals with high antibody titers
  • Identify the role of exercise and nutrition in Pompe disease
  • Examine improvements following respiratory muscle strength training (RMST)
  • Establish new and innovative treatment strategies for Pompe disease
Visit our Clinical Trials page for more information on research opportunities for Pompe disease at Duke, or contact:

Stephanie DeArmey
Physician Assistant

GAA Mutation Database

Patient Testimonials

I am the first adult to receive Myozyme. You would not be talking to me if it wasn't for this.

--Abby, North Carolina

We were told we needed to talk to the experts, and they're at Duke.

--Maddison's Mom, North Carolina

I have a normal life--I'm married with two girls. I fully expect to watch my grandchildren grow up.

--Robert, North Carolina

We were impressed with [Duke's] knowledge of Pompe and switched things immediately.

--Haley's Mom, Virginia

Thanks to Dr. Kishnani and her outstanding colleagues, our son Ryan's future is now much more promising than we faced a year ago. We are truly thankful for the opportunity that these dedicated professionals have given our son.

--Ryan's Dad, Illinois

I would like to thank Duke for its pioneering research on Pompe disease. Soon after coming to Durham, I learned that Duke Hospital, because of the research done by Dr. Y.T. Chen and his team, had been a pioneer in developing enzyme infusion treatment. Even in my limited knowledge of this work, I have been blown away by the brilliance of the research and the impact it could have on patients like my daughter.

--Nandita's father, Massachusetts

Save the Date: 5th Annual Late-Onset Pompe Disease Patient Meeting

The Duke Pompe Disease Clinical and Research Program at Duke University Medical Center, in partnership with the United Pompe Foundation, plans to host the 5th Annual Late-Onset Pompe Disease (LOPD) Patient Meeting, April 29-30, 2016. The meeting is supported by educational grants from Genzyme Corp., BioMarin Pharmaceutical, Inc. and Amicus therapeutics.

Meeting Resources

Physicians and Staff

Medical Genetics Team

Priya S. Kishnani, MD Division Chief, Geneticist
Dwight Koeberl, MD, PhD Geneticist
Marie McDonald, MD, MB, BCh Geneticist
Stephanie Wechsler, MD Geneticist & Cardiologist
Y.T. Chen, MD, PhD Geneticist
Deeksha Bali, PhD Laboratory Director
Sarah Young, PhD Laboratory Director
Jennifer Goldstein, PhD Clinical Research Coordinator
Stephanie DeArmey, MHS, PA-C Physician Assistant
Crista Walters, RN Nurse Practitioner
Stephanie Austin, MS Genetic Counselor
Lauren Bailey, MS Genetic Counselor
Katie Berrier, MS Genetic Counselor
Surekha Pandyal, RD, LDN Metabolic Dietician

Affiliated Subspecialties

Laura Case, DPT, PCS Physical Therapist
Lisa Hobson-Webb, MD Neurologist
Harrison Jones, PhD Speech Pathologist
Richard Kravitz, MD Pulmonologist
Jennifer Li, MD Cardiologist
Grace Prakalapakorn, MD Opthalmologist
Eileen Raynor, MD Otolaryngologist
Yul Reinstein, MD Gastroenterologist
Henry Rice, MD General Surgeon
Allison Ross, MD Anesthesiologist
Edward Smith, MD Neurologist
Gail Spiridigliozzi, PhD Psychologist

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Clinic Hours & Locations

Lenox Baker Children's Hospital
3000 Erwin Road
Durham, NC 27705
Tel: 919-684-6669

Hours: Mondays, 8:00 am - 3:00 pm

Additional Locations

Patients may be seen in consultation by additional sub-specialties in other outpatient clinics:

Duke Children's Hospital and Health Center
2301 Erwin Road
Durham, NC 27710
Tel: 919-668-4000

Hours: Daily, 8:30 am - 5:00 pm

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Appointments and Contact Information

To schedule a clinic appointment with our team, contact:

Sandra Durden
Tel: 919-684-0307
Fax: 919-668-0414

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Pompe Photo Gallery

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