The 20 Best Pompe Disease Doctors Near Me in Philadelphia, PA

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 29 doctor with experience in Pompe Disease near Philadelphia, PA. Of these, 15 are Experienced, 5 are Advanced, 4 are Elite and 3 are Distinguished.

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29 providers found
    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 
     (1.5 miles away)
    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

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    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
    Pulmonary Medicine
    Distinguished in Pompe Disease
    Pulmonary Medicine
    Referral may be required

    Office

    3400 Spruce St Ste F, 
    Philadelphia, PA 
     (1.8 miles away)
    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.

    Learn about our expert tiers
    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 
     (4.3 miles away)
    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
    Distinguished in Pompe Disease
    Referral may be required

    Penn Neuroscience Center - Neurology

    3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    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.

    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 
     (1.5 miles away)
    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.

    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 
     (1.5 miles away)
    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
    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 
     (1.5 miles away)
    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.

    Pulmonary Medicine
    Pulmonary Medicine
    Referral may be required

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jason Ackrivo is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ackrivo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses Thymidine Kinase 2 Deficiency (TK2d), Pulmonary Aspergilloma, Aspergillosis, and Lung Metastases. Dr. Ackrivo is board certified in Critical Care Medicine, 2019 and Pulmonary Disease, 2017. Dr. Ackrivo is currently accepting new patients.

    Pulmonary Medicine | Sleep Medicine
    Pulmonary Medicine | Sleep Medicine
    Referral may be required

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Arshad Wani is a Pulmonary Medicine specialist and a Sleep Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Wani is rated as undefined provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Simple Pulmonary Eosinophilia, Eosinophilic Pneumonia, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Gastrostomy. Dr. Wani is board certified in Critical Care Medicine, 2007 and Pulmonary Disease, 2005. Dr. Wani 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 
     (1.6 miles away)
    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
    Advanced in Pompe Disease
    Referral may be required

    Penn Nerve Center University City

    3737 Market Street, 7th Floor, 
    Philadelphia, PA 
     (1.7 miles away)
    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.

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

    Cooper Heart Station At Cooper University Hospital

    1 Cooper Plaza Floor 2, 
    Camden, NJ 
     (3.0 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Joseph Campellone is a Neuromusculoskeletal Medicine specialist and a Neurologist practicing medicine in Camden, New Jersey. Dr. Campellone 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, Myasthenia Gravis, Pompe Disease, Inclusion Body Myopathy 2, and Thrombectomy. Dr. Campellone is board certified in American Board Of Psychiatry And Neurology,Neurology , 1996. Dr. Campellone is currently accepting new patients.

    Experienced in Pompe Disease
    Internal Medicine
    Experienced in Pompe Disease
    Internal Medicine

    Penn Personalized Care - Rosemary Kearney, MD

    800 Walnut Street, 17th Floor, 
    Philadelphia, PA 
     (0.6 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Rosemary Kearney is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Kearney is rated as an Experienced 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 Enlarged Prostate (BPH), Chronic Cough, Danon Disease, and Pompe Disease. Dr. Kearney is board certified in Internal Medicine, 1993.

    Experienced in Pompe Disease
    Internal Medicine
    Experienced in Pompe Disease
    Internal Medicine

    Penn Personalized Care - Gary W. Dorshimer, MD

    800 Walnut Street, 17th Floor, 
    Philadelphia, PA 
     (0.6 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gary Dorshimer is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Dorshimer 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 Sitosterolemia, Diffuse Idiopathic Skeletal Hyperostosis, Crohn's Disease, High Cholesterol, and Ureteroscopy. Dr. Dorshimer is board certified in Emergency Medicine - Sports Medicine, 1995 and Internal Medicine, 1984. Dr. Dorshimer is currently accepting new patients.

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

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mary Porteous is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Porteous is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Acute Interstitial Pneumonia, Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis, Pulmonary Fibrosis, and Lung Transplant. Dr. Porteous is currently accepting new patients.

    Pulmonary Medicine
    Pulmonary Medicine
    Referral may be required

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    John Hansen-Flaschen is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Hansen-Flaschen is rated as an Experienced 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 Nontuberculous Mycobacterial Lung Disease, Chronic Obstructive Pulmonary Disease (COPD), Lung Metastases, and Cholesterol Pneumonia. Dr. Hansen-Flaschen is board certified in Pulmonary Disease, 1982 and Internal Medicine, 1979. Dr. Hansen-Flaschen is currently accepting new patients.

    Pulmonary Medicine
    Pulmonary Medicine
    Referral may be required

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Michael Rey is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Rey is rated as undefined 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 Bronchiectasis, Cystic Fibrosis, Secondary Immunodeficiency (SID), and Nontuberculous Mycobacterial Lung Disease. Dr. Rey is board certified in Critical Care Medicine, 2023, Pulmonary Disease, 2018, and Internal Medicine, 2017. Dr. Rey is currently accepting new patients.

    Pulmonary Medicine
    Pulmonary Medicine
    Referral may be required

    Harron Lung Center Perelman

    3400 Civic Center Boulevard, West Pavilion, 1st Floor, 
    Philadelphia, PA 
     (1.5 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gulus Emre is a Pulmonary Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Emre is rated as undefined provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Acute Respiratory Distress Syndrome (ARDS), Pompe Disease, and Muscle Atrophy. Dr. Emre is board certified in Internal Medicine, 2020 and Pulmonary Disease, 2024. Dr. Emre is currently accepting new patients.

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

    Office

    3500 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Oscar Mayer is a Pediatric Pulmonologist practicing medicine in Philadelphia, Pennsylvania. Dr. Mayer 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 Duchenne Muscular Dystrophy, Spondylocostal Dysostosis, Spinal Muscular Atrophy Type 2, and Ellis-Van Creveld Syndrome.

    Showing 1-20 of 29

    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 Philadelphia, PA?

    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 Philadelphia, PA?

    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 near Philadelphia, PA?

    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 Philadelphia, PA?

    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 Philadelphia, PA?

    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 Philadelphia, PA?

    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 Philadelphia, PA?

    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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