The 20 Best Pompe Disease Doctors Near Me

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Last Updated: 09/26/2026

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MediFind found 49 doctor with experience in Pompe Disease.

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49 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
    Elite in Pompe Disease
    Referral required
    Before you request

    Landon Center On Aging

    3599 Rainbow Boulevard, 
    Kansas City, KS 
    913-588-1227
    Languages Spoken:
    English, Arabic, French
    See accepted insurances
    Offers Telehealth

    Dr. Mazen Dimachkie, MD is a Clinical Neurophysiologist in Kansas City, KS and has over 34 years of experience in the medical field. He graduated from American University of Beirut / Faculty of Medicine in 1988. He is affiliated with medical facilities LMH Health and University Of Kansas Hospital. 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

    Dr. Paul R. Harmatz
    Pediatric Gastroenterology | Gastroenterology
    Elite in Pompe Disease

    Dr. Paul R. Harmatz
    Pediatric Gastroenterology | Gastroenterology
    Referral may be required

    UCSF Benioff Children's Hospital Gastroenterology Clinic

    744 52nd St, 5th Floor, 
    Oakland, CA 
    510-428-3058
    Languages Spoken:
    English
    See accepted insurances
    Offers Telehealth

    Dr. Paul Harmatz is a Pediatric Gastroenterologist who specializes in mucopolysaccharidoses (MPS) and other lysosomal storage diseases. He is the Medical Director of the Pediatric Clinical Research Program in Mucopolysaccharidoses (MPS) and Related Disorders at UCSF Benioff Children's Hospital. Dr. Harmatz has been the Principal Investigator on multiple clinical trials involving MPS and its variants. He is licensed to practice in CA. Dr. Harmatz is rated as an Elite 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 Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome). Dr. Harmatz is board certified in American Board Of Pediatrics.

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    Elite in Pompe Disease

    Dr. Chester B. Whitley
    Pediatrics | Medical Genetics
    Elite in Pompe Disease

    Dr. Chester B. Whitley
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Explorer Pediatric Specialty Clinic

    12th Flr, East Bld 2450 Riverside Ave, 
    Minneapolis, MN 
    612-365-6777
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients
    Offers Telehealth

    Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Porto Alegre, RS, BR 

    Roberto Giugliani practices practicing medicine in Porto Alegre, Brazil. Mr. Giugliani is rated as an Elite expert 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 Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Bone Marrow Transplant.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Hochheim, TH, DE 

    Eugen Mengel practices practicing medicine in Hochheim, Germany. Mr. Mengel 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 Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.

    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

    Dr. Tahseen Mozaffar is a Professor of Neurology, Orthopaedic Surgery and Pathology and Laboratory Medicine at University of California, Irvine. He is the Director of the UC Irvine-MDA ALS and Neuromuscular Center and the Director of the Division of Neuromuscular Diseases. Dr. Mozaffar serves as chair of one of the biomedical committees and the institutional liaison for Trials Innovation Hub for the Center for Translational Sciences Award (CTSA) at University of California, Irvine. He is the Principal Investigator for UCI-NEXT, the NeuroNEXT award to the University of California, Irvine, one of 25 such NeuroNEXT sites funded by the NINDS/NIH.. 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
    Mansfield Road, 
    Oxford, ENG, GB 

    Frances Platt practices practicing medicine in Oxford, United Kingdom. Ms. Platt is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Niemann-Pick Disease, Sandhoff Disease, Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Berlin, BE, DE 

    Arndt Rolfs practices practicing medicine in Berlin, Germany. Rolfs is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 30 other conditions, according to our data. Their clinical expertise encompasses Niemann-Pick Disease, Gaucher Disease, Fabry Disease, and Non-Langerhans-Cell Histiocytosis.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Queen Square, 
    London, ENG, GB 

    Robin Lachmann practices practicing medicine in London, United Kingdom. Lachmann is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 20 other conditions, according to our data. Their clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Fabry Disease, X-Linked Hypophosphatemia, and Osteotomy.

    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

    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
    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
    4 Centre De RĂ©fĂ©rence 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
    Rome, IT 

    Carlo Vici-Dionisi practices practicing medicine in Rome, Italy. Mr. Vici-Dionisi is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, Vici Syndrome, Urea Cycle Disorders (UCD), Liver Transplant, and Pancreaticoduodenectomy.

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

    Amelia Morrone practices practicing medicine in Florence, Italy. Ms. Morrone is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), and PMM2-Congenital Disorder of Glycosylation.

    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
    UCL Queen Square Institute Of Neurology, 
    London, ENG, GB 

    Derralynn Hughes practices practicing medicine in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Fabry Disease, Gaucher Disease, Gaucher Disease Type 1, Pacemaker Implantation, and Splenectomy.

    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    Warsaw, MZ, PL 

    Anna Szymanska-Tylki practices practicing medicine in Warsaw, Poland. Ms. Szymanska-Tylki is rated as an Elite expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Gaucher Disease, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Liver Transplant, and Bone Marrow Transplant.

    Distinguished in Pompe Disease
    Distinguished in Pompe Disease
    Referral required
    Before you request

    Neuromuscular Research Center

    4545 E Shea Blvd, Ste 175, 
    Phoenix, AZ 
    480-314-1007
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients
    Offers Telehealth

    Kumaraswamy Sivakumar is a Neurologist practicing medicine in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Dermatomyositis. Dr. Sivakumar is board certified in Psychiatry & Neurology (Neurology), Psychiatry & Neurology (Sub: Clinical Neurophysiolog, and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Sivakumar is currently accepting new patients.

    Showing 1-20 of 49

    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
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    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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