The 20 Best Pompe Disease Doctors Near Me

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 2214 doctor with experience in Pompe Disease. Of these, 1725 are Experienced, 364 are Advanced, 90 are Distinguished and 33 are Elite.

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2,214 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 
    919-684-8111
    Languages Spoken:
    English
    See accepted insurances
    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

    Dr. Dwight D. Koeberl
    Medical Genetics | Pediatrics
    Elite in Pompe Disease

    Dr. Dwight D. Koeberl
    Medical Genetics | Pediatrics
    Referral required

    Duke University Hospital

    2301 Erwin Rd, 
    Durham, NC 
    919-684-8111
    Languages Spoken:
    English
    See accepted insurances
    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

    Dr. Shafeeq S. Ladha
    Neuromusculoskeletal Medicine | Neurology
    Elite in Pompe Disease

    Dr. Shafeeq S. Ladha
    Neuromusculoskeletal Medicine | Neurology
    Referral required

    Barrow Neuromuscular, MS, MDA, Neuro Ophthalmology

    240 W Thomas Rd, Ste 400, 
    Phoenix, AZ 
    602-406-6262
    Languages Spoken:
    English
    See accepted insurances
    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

    Dr. Virginia E. Kimonis
    Medical Genetics | Pediatrics
    Elite in Pompe Disease

    Dr. Virginia E. Kimonis
    Medical Genetics | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
    714-456-7720
    Languages Spoken:
    English, Greek, Hindi
    See accepted insurances
    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 
    352-265-8250
    Languages Spoken:
    English
    See accepted insurances
    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

    Dr. Tahseen Mozaffar
    Neurology | Neuromusculoskeletal Medicine
    Elite in Pompe Disease

    Dr. Tahseen Mozaffar
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required

    UCI Health ALS & Neuromuscular Center

    200 South Manchester Avenue, Suite 110, 
    Orange, CA 
    714-456-2332
    Languages Spoken:
    English, Hindi, Urdu
    See accepted insurances
    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 may be required
    Ivrea, IT 

    Antonio Toscano practices practicing medicine in Ivrea, Italy. Mr. Toscano is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Myoglobinuria Recurrent, Rhabdomyolysis, Thrombectomy, and Liver Transplant.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Jordi Manera-Diaz practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Manera-Diaz is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 24 other conditions, according to our data. Their clinical expertise encompasses Pompe Disease, Limb-Girdle Muscular Dystrophy, Dysferlinopathy, and Delta-Sarcoglycanopathy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    4 Centre De Référence De Pathologie Neuromusculaire Paris Est, 
    Paris, FR 

    Pascal Laforet practices practicing medicine in Paris, France. Mr. Laforet is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Glycogen Storage Disease Type 3, Glutaric Acidemia Type 2, Rhabdomyolysis, and Thymectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Messina, IT 

    Olimpia Musumeci practices practicing medicine in Messina, Italy. Ms. Musumeci is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 25 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Myoglobinuria Recurrent, Rhabdomyolysis, and Progressive External Ophthalmoplegia.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Rotterdam, ZH, NL 

    Ans Van Der Ploeg practices practicing medicine in Rotterdam, Netherlands. Van Der Ploeg is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 12 other conditions, according to our data. Their clinical expertise encompasses Pompe Disease, Mucolipidosis Type 4, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidoses (MPS).

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral required

    Landon Center On Aging

    3599 Rainbow Boulevard, 
    Kansas City, KS 
    913-588-1227
    Languages Spoken:
    English, Arabic, French
    See accepted insurances
    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 
    703-261-6220
    Languages Spoken:
    English, Spanish, Turkish
    See accepted insurances
    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
    Elite in Pompe Disease
    Referral may be required
    Padova, IT 

    Corrado Angelini practices practicing medicine in Padova, Italy. Mr. Angelini is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Paramyotonia Congenita.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Munich, BY, DE 

    Benedikt Schoser practices practicing medicine in Munich, Germany. Mr. Schoser is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, Pompe Disease, and Thymectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Evry, FR 

    Federico Mingozzi practices practicing medicine in Evry, France. Mr. Mingozzi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Crigler-Najjar Syndrome, Rotor Syndrome, Pompe Disease, Hemophilia B, and Liver Transplant.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Turin, IT 

    Tiziana Mongini practices practicing medicine in Turin, Italy. Ms. Mongini is rated as an Elite expert 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 Pompe Disease, Facioscapulohumeral Muscular Dystrophy (FSHD), Duchenne Muscular Dystrophy, and Becker Muscular Dystrophy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Nice, FR 

    Sabrina Sacconi practices practicing medicine in Nice, France. Ms. Sacconi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Pompe Disease, Myasthenia Gravis, and Cramp-Fasciculation Syndrome.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Centre De Référence De Pathologie Neuromusculaire Paris Est, 
    EE 

    John Vissing practices practicing medicine in Estonia. Mr. Vissing is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Limb-Girdle Muscular Dystrophy, Myasthenia Gravis, Limb-Girdle Muscular Dystrophy Type 2I, and Pompe Disease.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Pavia, IT 

    Sabrina Ravaglia practices practicing medicine in Pavia, Italy. Ms. Ravaglia is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Guillain-Barre Syndrome, Lethal Congenital Contracture Syndrome, and Cramp-Fasciculation Syndrome.

    Showing 1-20 of 2,214

    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 near me?

    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 near me?

    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 do I find the best Pompe Disease doctor near me?

    You can find a Pompe Disease doctor in any of the 10 largest U.S. cities by clicking below:

    Pompe Disease doctor near New York, NY
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    Pompe Disease doctor near Chicago, IL
    Pompe Disease doctor near Houston, TX
    Pompe Disease doctor near Phoenix, AZ
    Pompe Disease doctor near Philadelphia, PA
    Pompe Disease doctor near Atlanta, GA
    Pompe Disease doctor near Boston, MA
    Pompe Disease doctor near Dallas, TX
    Pompe Disease doctor near San Jose, CA

    How does MediFind rank Pompe Disease doctors near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 

    Read more about our Content Policy. 

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