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

What 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 and liver samples to support diagnosis. Prenatal testing is available on CVS samples and cultured amniocytes. Enzyme testing is not appropriate for carrier testing.

Tests

• Enzyme Testing: Acid Maltase Activity (acid alpha-glucosidase, GAA): GAA enzyme activity and glycogen content are measured directly in tissue homogenates and compared with the established positive and negative controls.
  
  
• DNA Testing: Certain GAA gene mutations are more common in specific populations. We offer testing for three common GAA gene mutations:
• IVS1 -13t>g in adult-onset Pompe disease
• p.D645E in infantile-onset Chinese patients
• p.R845X in infantile-onset African or African-American patients

Carrier testing and prenatal testing are available if the familial mutations have been previously identified.  

• Full GAA Gene Sequencing: Full sequencing of the GAA gene is performed by the Duke Molecular Diagnostics Laboratory.
  
  
• Urine Hex4 Analysis: A biomarker assay to aid in the diagnosis of Pompe disease and monitor patients on ERT. See the Urine Hex₄ Test Information Sheet for more information.
  
  

•  Analysis of CRIM Status: Cross-Reactive Immunological Material (CRIM) is a measurement of natural GAA production in skin fibroblast cells (available as part of a research study [PDF, 120KB]).

Forms

• Pompe Disease Test Request Form
• Sequencing Test Request Form via the Duke Molecular Diagnostics Laboratory

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

Treatments

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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Research

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

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

2nd Annual Pompe Disease Social and Patient Meeting

The Duke Pompe Disease Clinical and Research Program at Duke University Medical Center, in partnership with the United Pompe Foundation, hosted the 2nd Annual Late-Onset Pompe Disease (LOPD) Social and Patient Meeting, April 19-20, 2013. The meeting was supported by educational grants from Genzyme Corp., BioMarin Pharmaceutical, Inc. and Amicus Therapeutics. This year our meeting nearly doubled, as we hosted more than 30 patients with LOPD along with their family members and friends. We are excited to make this a reoccurring annual event and plan to host next year's LOPD Patient Meeting on April 25 and 26, 2014.

Meeting Resources

• The new era of Pompe disease: Advances in the detection, understanding of phenotypic spectrum, pathophysiology and management [PDF, 277KB]
• Generating color-coded anatomic muscle maps for correlation of quantitative MRI analysis with clinical examination in neuromuscular disorders [623KB]
• Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement [149KB]
• The impact of antibodies in late-onset Pompe disease: A case series and literature review [823KB]

Physicians and Staff

Medical Genetics Team

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Pompe Photo Gallery

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