The 20 Best Pompe Disease Doctors Near Me in Pennsylvania, US

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 56 doctor with experience in Pompe Disease near Pennsylvania, US. Of these, 38 are Experienced, 8 are Advanced, 4 are Distinguished and 4 are Elite.

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56 providers found
    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.

    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

    LVPG Cardiology - Richland Township

    320 W Pumping Station Road, Suite 3, 
    Quakertown, PA 
    Languages Spoken:
    English, Gujarati , Hindi
    Accepting New Patients
    Offers Telehealth

    Apurva Vyas is a Cardiologist practicing medicine in Quakertown, Pennsylvania. Dr. Vyas is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Heart Attack, Cardiogenic Shock, Apoplexy, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR). Dr. Vyas is board certified in American Board Of Internal Medicine - Cardiovascular Disease. Dr. Vyas is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Sharlene Day is a Cardiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Orchiectomy. Dr. Day is board certified in Cardiovascular Disease, 2012. Dr. Day is currently accepting new patients.

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

    LVH Cardiology-1250 Cedar Crest

    1250 S Cedar Crest Blvd, Suite 300, 
    Allentown, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Cheri Fadlon is a Cardiologist practicing medicine in Allentown, Pennsylvania. Dr. Fadlon is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Heart Failure with Preserved Ejection Fraction (HFpEF), Pompe Disease, Danon Disease, and Ectopic Heartbeat. Dr. Fadlon is board certified in American Board Of Internal Medicine - Internal Medicine and American Board Of Internal Medicine - Cardiovascular Disease . Dr. Fadlon is currently accepting new patients.

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

    Phoenixville Hospital

    140 Nutt Road, 
    Phoenixville, PA 
    Languages Spoken:
    English, Hindi
    Accepting New Patients
    Offers Telehealth

    Konark Malhotra is a Neurologist practicing medicine in Phoenixville, Pennsylvania. Dr. Malhotra is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Stroke, Transient Ischemic Attack (TIA), Cerebral Amyloid Angiopathy, Thrombectomy, and Stent Placement. Dr. Malhotra is board certified in American Board Of Psychiatry And Neurology. Dr. Malhotra is currently accepting new patients.

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

    Delaware Valley Community Health, Inc

    133 W Main St, Norristown Regional Health Center, 
    Norristown, PA 
    Languages Spoken:
    English

    Irisaida Martinez is a Pediatrics provider practicing medicine in Norristown, Pennsylvania. Dr. Martinez is rated as an Experienced 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 Delayed Growth, Vitamin D Deficiency, Obesity in Children, and Autism Spectrum Disorder. Dr. Martinez is board certified in American Board Of Pediatrics.

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

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics | Physiatry
    Distinguished in Pompe Disease
    Medical Genetics | Pediatrics | Physiatry
    Referral may be required

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider 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 Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Gaucher Disease.

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

    Penn Neuroscience Center - Neurology

    3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Chafic Karam is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Karam is rated as a Distinguished provider 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 Transthyretin Amyloidosis, Chronic Inflammatory Demyelinating Polyneuropathy, Myasthenia Gravis, Tissue Biopsy, and Laminectomy. Dr. Karam is board certified in Neuromuscular Medicine, 2012 and Neurology, 2011. Dr. Karam is currently accepting new patients.

    Advanced in Pompe Disease
    Intensive Care Medicine | Sleep Medicine | Pulmonary Medicine
    Advanced in Pompe Disease
    Intensive Care Medicine | Sleep Medicine | Pulmonary Medicine
    Referral may be required

    LVPG Pulmonary And Critical Care Medicine-Tower Place

    1490 8th Ave., Suite 220, 
    Bethlehem, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Aileen Love is an Intensive Care Medicine specialist and a Sleep Medicine provider practicing medicine in Bethlehem, Pennsylvania. Dr. Love is rated as an Advanced 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 Obstructive Sleep Apnea, Lung Metastases, Interstitial Lung Disease, and Pompe Disease. Dr. Love is board certified in American Board Of Internal Medicine - Critical Care Medicine , American Board Of Internal Medicine - Internal Medicine, American Board Of Internal Medicine - Sleep Medicine , and American Board Of Internal Medicine - Pulmonary Disease . Dr. Love is currently accepting new patients.

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

    LVPG Family Medicine-Trexlertown

    6900 Hamilton Blvd, PO Box 127, 
    Trexlertown, PA 
    Languages Spoken:
    English
    Offers Telehealth

    John Peters is a primary care provider, practicing in Family Medicine in Trexlertown, Pennsylvania. Dr. Peters 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 Pompe Disease, Danon Disease, Bronchitis, and Melorheostosis with Osteopoikilosis. Dr. Peters is board certified in American Osteopathic Board Of Family Physicians/Hospice & Palliative - Family Medicine.

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

    Penn Nerve Center University City

    3737 Market Street, 7th Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Colin Quinn is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Inclusion Body Myositis, Progressive Hemifacial Atrophy, and Gastrostomy. Dr. Quinn is board certified in Neuromuscular Medicine, 2012 and Neurology, 2011. Dr. Quinn is currently accepting new patients.

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

    Penn Neuroscience Center - Neurology

    3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Paul Mcintosh is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Mcintosh is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Foot Drop, Peripheral Neuropathy, and Facioscapulohumeral Muscular Dystrophy (FSHD). Dr. Mcintosh is board certified in Neuromuscular Medicine, 2022 and Neurology, 2021. Dr. Mcintosh is currently accepting new patients.

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

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Rebecca Ahrens-Nicklas is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as an Advanced 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 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, RASopathies, Phenylketonuria (PKU), and Cardiofaciocutaneous Syndrome.

    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral required

    Penn Translational Medicine And Human Genetics

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Staci Kallish is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 104 other conditions, according to our data. Her clinical expertise encompasses Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is board certified in Clinical Genetics And Genomics, 2022 and Med Genetics/Clinical Biochem (AMA)Pediatrics, 2008.

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

    Penn State Neuroscience Institute

    30 Hope Dr, Suite 1300 | Entrance B, 
    Hershey, PA 
    Experience:
    44+ years
    Languages Spoken:
    English
    Accepting New Patients

    Zachary Simmons is a Neurologist practicing medicine in Hershey, Pennsylvania. He has been practicing medicine for over 44 years. Dr. Simmons is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Spinal Muscular Atrophy (SMA), Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy Type 3, and Spinal and Bulbar Muscular Atrophy. Dr. Simmons is currently accepting new patients.

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

    The Milton S. Hershey Medical Center

    500 University Dr, 
    Hershey,, PA 
    Languages Spoken:
    English

    Sankar Bandyopadhyay is a Neurologist practicing medicine in Hershey,, Pennsylvania. Dr. Bandyopadhyay is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Congenital Fiber-Type Disproportion, Benign Autosomal Dominant Myopathy, and X-Linked Myotubular Myopathy.

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

    LVH Neurology-Hausman Rd

    798 Hausman Rd, Suite 240, 
    Allentown, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Jay Varrato is a Neurologist practicing medicine in Allentown, Pennsylvania. Dr. Varrato is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Epilepsy, Myasthenia Gravis, Seizures, and Memory Loss. Dr. Varrato is board certified in American Board Of Psychiatry & Neurology - Neurology. Dr. Varrato is currently accepting new patients.

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

    Geisinger Scranton - Neurology

    3 West Olive Street, Suite 132, 
    Scranton, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Eric Veloso is a Neuromusculoskeletal Medicine specialist and a Neurologist practicing medicine in Scranton, Pennsylvania. Dr. Veloso is rated as an Experienced 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 Dystrophinopathy, Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Peripheral Neuropathy. Dr. Veloso is currently accepting new patients.

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    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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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