The 20 Best Pompe Disease Doctors in The United States

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 930 doctor with experience in Pompe Disease near The United States. Of these, 777 are Experienced, 108 are Advanced, 26 are Distinguished and 17 are Elite.

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930 providers found
    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required

    Duke Health Integrated Practice Inc

    40 Duke Medicine Cir, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients

    Priya Kishnani is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Referral required

    Duke University Hospital

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Koeberl is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, Propionic Acidemia, and X-Linked Creatine Deficiency. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics. Dr. Koeberl is currently accepting new patients.

    Elite in Pompe Disease
    Neuromusculoskeletal Medicine | Neurology
    Elite in Pompe Disease
    Neuromusculoskeletal Medicine | Neurology
    Referral required

    Barrow Neuromuscular, MS, MDA, Neuro Ophthalmology

    240 W Thomas Rd, Ste 400, 
    Phoenix, AZ 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shafeeq Ladha is a Neuromusculoskeletal Medicine specialist and a Neurologist practicing medicine in Phoenix, Arizona. Dr. Ladha is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Spinal Muscular Atrophy (SMA). Dr. Ladha is board certified in Psychiatry & Neurology (Neurology) and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Ladha is currently accepting new patients.

    Learn about our expert tiers
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
    Languages Spoken:
    English, Greek, Hindi
    Offers Telehealth

    Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kimonis is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required

    UF Health Pediatric Infusion Center & Specialties Clinic

    1600 SW Archer Rd Fl Fourth, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Barry Byrne is a Pediatrics provider practicing medicine in Gainesville, Florida. Dr. Byrne is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Hereditary Ataxia, Hypotonia, Infantile Neutropenia, and Bone Marrow Aspiration. Dr. Byrne is currently accepting new patients in some locations.

    Elite in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Elite in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required

    UCI Health ALS & Neuromuscular Center

    200 South Manchester Avenue, Suite 110, 
    Orange, CA 
    Languages Spoken:
    English, Hindi, Urdu
    Accepting New Patients
    Offers Telehealth

    Tahseen Mozaffar is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in Board Certification In Neurology, 1996-2026, Board Certification In Neuromuscular Medicine, 2008-2028, and Board Certification In Clinical Neuromuscular Pathology, 2015 - 2025. Dr. Mozaffar is currently accepting new patients.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral required

    Landon Center On Aging

    3599 Rainbow Boulevard, 
    Kansas City, KS 
    Languages Spoken:
    English, Arabic, French
    Offers Telehealth

    Mazen Dimachkie is a Neurologist practicing medicine in Kansas City, Kansas. Dr. Dimachkie is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Myositis, Inclusion Body Myositis, Myasthenia Gravis, Thymectomy, and Tissue Biopsy. Dr. Dimachkie is board certified in American Board Of Psychiatry And Neurology Neurology, American Board Of Psychiatry And Neurology Clinical Neurophysiology, and American Board Of Psychiatry And Neurology Neuromuscular Medicine.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required

    Ozlem Goker-Alpan MD LLC

    3702 Pender Dr Ste 170, 
    Fairfax, VA 
    Languages Spoken:
    English, Spanish, Turkish
    Accepting New Patients

    Ozlem Goker-Alpan is a Pediatrics provider practicing medicine in Fairfax, Virginia. Dr. Goker-Alpan is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, and Gaucher Disease Type 3. Dr. Goker-Alpan is currently accepting new patients.

    Elite in Pompe Disease
    Pulmonary Medicine
    Elite in Pompe Disease
    Pulmonary Medicine
    Referral may be required

    NYU Langone Rusk Pulmonary Function Lab

    240 E 38th St Rm M-15, 
    New York, NY 
    Languages Spoken:
    English

    Kenneth Berger is a Pulmonary Medicine provider practicing medicine in New York, New York. Dr. Berger is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Pompe Disease, Emphysema, Chronic Obstructive Pulmonary Disease (COPD), and Asthma.

    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Westchester Medical Center Advanced Physician Services PC

    100 Woods Rd, 
    Valhalla, NY 
    Languages Spoken:
    English

    David Kronn is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Valhalla, New York. Dr. Kronn is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 3.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required

    Cincinnati Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English, Arabic, Arabic - Jordanian
    Accepting New Patients

    Hani Kushlaf is a Neurologist practicing medicine in Cincinnati, Ohio. Dr. Kushlaf is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Pompe Disease, Inclusion Body Myositis, Potassium-Aggravated Myotonia, and Thymectomy. Dr. Kushlaf is currently accepting new patients.

    Elite in Pompe Disease
    Internal Medicine
    Elite in Pompe Disease
    Internal Medicine
    3901 Beaubien St, 
    Detroit, MI 
    Languages Spoken:
    English
    Accepting New Patients

    David Stockton is a primary care provider, practicing in Internal Medicine in Detroit, Michigan. Dr. Stockton is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Danon Disease, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts. Dr. Stockton is currently accepting new patients.

    Advanced in Pompe Disease
    Family Medicine
    Advanced in Pompe Disease
    Family Medicine

    Atrium Health Primary Care One Health Family Medicine Reese Blvd.

    13620 Reese Blvd., E., Suite 125, 
    Huntersville, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mei-tsi Lawing is a primary care provider, practicing in Family Medicine in Huntersville, North Carolina. Dr. Lawing is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Danon Disease, Transient Global Amnesia, and Type 2 Diabetes (T2D). Dr. Lawing is currently accepting new patients.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required

    Duke Children's Neurology Creekstone

    4709 Creekstone Dr, 
    Durham, NC 
    Languages Spoken:
    English, Gujarati 
    Accepting New Patients
    Offers Telehealth

    Sujay Kansagra is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Kansagra is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Alternating Hemiplegia of Childhood, Pompe Disease, Microcephaly, and Achalasia Microcephaly Syndrome. Dr. Kansagra is board certified in American Board Of Psychiatry/Neurology, Neurology With Special Qualifications In Child Neurology and American Board Of Psychiatry/Neurology, Sleep Medicine. Dr. Kansagra is currently accepting new patients.

    Distinguished in Pompe Disease
    Pulmonary Medicine
    Distinguished in Pompe Disease
    Pulmonary Medicine
    Referral may be required

    Office

    3400 Spruce St Ste F, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Yasmine Wasfi is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Wasfi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Plaque Psoriasis, and Pulmonary Alveolar Proteinosis. Dr. Wasfi is currently accepting new patients.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral required

    Amc

    47 New Scotland Ave, 
    Albany, NY 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Matthew Murnane is a Neurologist practicing medicine in Albany, New York. Dr. Murnane is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 66 other conditions, according to our data. His clinical expertise encompasses Andermann Syndrome, Charcot-Marie-Tooth Disease, Septic Arthritis, and Hereditary Sensory Neuropathy Type 1 (HSN1). Dr. Murnane is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    Referral required

    Duke Health Integrated Practice Inc

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English, Russian
    Accepting New Patients
    Offers Telehealth

    Dmitriy Niyazov is a Medical Genetics provider practicing medicine in Durham, North Carolina. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Thymidine Kinase 2 Deficiency (TK2d), Macroglossia, and Ehlers-Danlos Syndrome (EDS). Dr. Niyazov is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General. Dr. Niyazov is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics
    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics
    Referral may be required

    Duke Children's Health Center Cardiology Clinic

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Andrew Landstrom is a Pediatric Cardiologist and a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Landstrom is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Wildervanck Syndrome, Cardiomyopathy, Alternating Hemiplegia of Childhood, Restrictive Cardiomyopathy (RCM), and Heart Transplant. Dr. Landstrom is board certified in American Board Of Pediatrics, General Pediatrics and American Board Of Pediatrics, Pediatric Cardiology. Dr. Landstrom is currently accepting new patients.

    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Experienced in Pompe Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Referral may be required

    University Of Penn-Medical Group

    3400 Spruce St, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Maryjane Farr is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Farr is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Heart Failure, Cardiogenic Shock, Cardiomyopathy, Pulmonary Edema, and Heart Transplant.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Duke Children's Health Center Pulmonary Clinic

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English, Arabic, Spanish
    Accepting New Patients
    Offers Telehealth

    Mai Elmallah is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Elmallah is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Pompe Disease. Dr. Elmallah is board certified in American Board Of Pediatrics, General Pediatrics and American Board Of Pediatrics, Pediatric Pulmonology. Dr. Elmallah is currently accepting new patients.

    Showing 1-20 of 930

    Last Updated: 09/26/2026

    What is the definition of Pompe Disease?

    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

    Which doctors treat Pompe disease?     

    Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

    How is Pompe disease diagnosed?     

    Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

    How is Pompe disease treated? 

    Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

    What is the life expectancy for someone with Pompe disease? 

    Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

    When should I see a Pompe Disease doctor in The United States?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Pompe Disease doctor in The United States?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Pompe Disease doctors in The United States?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Pompe Disease doctors in The United States?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Pompe Disease doctor in The United States?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pompe Disease doctor search results page. 

    Why is it important to get a second opinion from a different Pompe Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Pompe Disease doctor in The United States?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Pompe Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Pompe Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Pompe Disease doctors in The United States?

    Look for the filter feature on the left side of the Pompe Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Pompe Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Pompe Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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