Filters

Specialty
Additional Specialty
Distance
    Gender
    Insurance
    Availability
    Language
    Years of Experience
    Level of Expertise

    Last Updated: 10/30/2025

    Save doctors for later
    Sign Up
    Not sure about your diagnosis?
    Check Your Symptoms
    Already have a doctor?
    Find A Second Opinion

    MediFind found 61 doctor with experience in Pompe Disease near Pennsylvania, US. Of these, 42 are Experienced, 6 are Advanced, 6 are Distinguished and 1 are Elite.

    Location
    LocationClose
    61 providers found
      Paula R. Clemens
      Elite in Pompe Disease
      Neuromusculoskeletal Medicine
      Elite in Pompe Disease
      Neuromusculoskeletal Medicine

      UPMC Department Of Neurology

      3471 5th Avenue, Suite 810, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Paula Clemens, MD, is a neurologist certified by the American Board of Psychiatry and Neurology. She is chief of the Division of Veterans Affairs and a professor of Neurology, Molecular Genetics and Biochemistry, Human Genetics, and Pediatrics at the University of Pittsburgh School of Medicine. She received her medical degree from the Medical College of Pennsylvania and completed her residency at Dartmouth-Hitchcock Medical Center, followed by a neuromuscular fellowship at Mayo Clinic and a molecular genetics fellowship at Baylor College of Medicine. Dr. Clemens is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Pompe Disease, and Myotonic Dystrophy Type 2.

      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Lehigh Valley Physician Group

      1250 S Cedar Crest Blvd, 300 Lvpg Cardiology, 
      Allentown, PA 
      Experience:
      16+ years
      Languages Spoken:
      English

      Apurva Vyas is a Cardiologist in Allentown, Pennsylvania. Dr. Vyas has been practicing medicine for over 16 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Attack, Cardiogenic Shock, Apoplexy, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine

      Lehigh Valley Physician Group

      1250 S Cedar Crest Blvd, 205 Lvpg Pulmonary And Cri, 
      Allentown, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Aileen Love is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Allentown, Pennsylvania. Dr. Love is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Obstructive Sleep Apnea, Lung Metastases, and Interstitial Lung Disease.

      Learn about our expert tiers
      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics | Physiatry
      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics | Physiatry

      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 in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      Distinguished in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      3400 Spruce St, 3 Ravdin Building, Suite F, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Yasmine Wasfi is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Philadelphia, Pennsylvania. Dr. Wasfi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Plaque Psoriasis, and Pulmonary Alveolar Proteinosis.

      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Lehigh Valley Physician Group

      1200 S Cedar Crest Blvd, 
      Allentown, PA 
      Languages Spoken:
      English

      Jay Varrato is a Neurologist in Allentown, Pennsylvania. Dr. Varrato is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Danon Disease, Pompe Disease, Epilepsy, and Myasthenia Gravis.

      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Perelman Center For Advanced Medicine South Pavilion, 2nd Floor

      3400 Civic Center Boulevard, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Chafic Karam is a Neurologist in Philadelphia, Pennsylvania. Dr. Karam is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Transthyretin Amyloidosis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Multifocal Motor Neuropathy, and Laminectomy. Dr. Karam is currently accepting new patients.

      Distinguished in Pompe Disease
      Distinguished in Pompe Disease

      Lehigh Valley Physician Group

      1250 S Cedar Crest Blvd, 300 Lvpg Cardiology, 
      Allentown, PA 
      Languages Spoken:
      English

      Cheri Silverstein-Fadlon is a Cardiologist in Allentown, Pennsylvania. Dr. Silverstein-Fadlon is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Danon Disease, Pompe Disease, and Ectopic Heartbeat.

      Sharlene M. Day
      Experienced in Pompe Disease
      Experienced in Pompe Disease

      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 in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant. Dr. Day is currently accepting new patients.

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Penn Neuroscience Center - Neurology

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

      Paul Mcintosh is a Neurologist in Philadelphia, Pennsylvania. Dr. Mcintosh is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Foot Drop, Peripheral Neuropathy, and Facioscapulohumeral Muscular Dystrophy (FSHD). Dr. Mcintosh is currently accepting new patients.

      Advanced in Pompe Disease
      Neurology
      Advanced in Pompe Disease
      Neurology

      Penn Neuroscience Center - Neurology

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

      Colin Quinn is a Neurologist in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Inclusion Body Myositis, Progressive Hemifacial Atrophy, and Gastrostomy. Dr. Quinn is currently accepting new patients.

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Penn State Neuroscience Institute

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

      Zachary Simmons is a Neurologist in Hershey, Pennsylvania. Dr. Simmons is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type 3, and Gastrostomy. Dr. Simmons is currently accepting new patients.

      Advanced in Pompe Disease
      Pediatrics | Medical Genetics
      Advanced in Pompe Disease
      Pediatrics | Medical Genetics

      Childrens Health Care Associates Inc

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

      Rebecca Ahrens-Nicklas is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

      Advanced in Pompe Disease
      Medical Genetics
      Advanced in Pompe Disease
      Medical Genetics

      Penn Translational Medicine And Human Genetics

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

      Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is currently accepting new patients.

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

      Lehigh Valley Physician Group

      6900 Hamilton Blvd, 
      Trexlertown, PA 
      Languages Spoken:
      English

      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. His top areas of expertise are Danon Disease, Pompe Disease, Bronchitis, and Melorheostosis.

      David Lacomis
      Experienced in Pompe Disease
      Neuromusculoskeletal Medicine
      Experienced in Pompe Disease
      Neuromusculoskeletal Medicine

      UPMC Department Of Neurology

      3471 5th Avenue, Suite 810, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      David Lacomis, MD, is a neurologist and is certified in neurology, clinical neurophysiology, and neuromusculoskeletal medicine by the American Board of Psychiatry and Neurology. He is chief of the Division of Neuromuscular Diseases and director of clinical research for the Live Like Lou Center of ALS Research. He is also a professor of Neurology and Pathology at the University of Pittsburgh School of Medicine. He received his medical degree from Penn State College of Medicine and completed his residency at Brigham and Women’s Hospital, followed by his fellowship at the University of Massachusetts Medical Center. Dr. Lacomis is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myasthenia Gravis, Primary Lateral Sclerosis, Lambert-Eaton Syndrome, and Thymectomy.

      Jennifer L. Newitt
      Experienced in Pompe Disease
      Pulmonary Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine

      University Of Pittsburgh Physicians, Department Of Medicine, Division Of Pulmonary, Allergy And Critical Care Medicine

      3459 5th Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Jennifer Newitt, MD, specializes in pulmonology and is board-certified in internal medicine, pulmonary disease, critical care medicine and sleep medicine by the American Board of Internal Medicine and pediatrics by the American Board of Pediatrics. She is affiliated with UPMC Jameson, UPMC Horizon, UPMC Mercy, UPMC Presbyterian, UPMC McKeesport, UPMC East and UPMC St. Margaret. Dr. Newitt completed fellowships at the University of Pittsburgh School of Medicine, residency at Indiana University School of Medicine and medical degree at Albany Medical College. Dr. Newitt is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Obstructive Sleep Apnea, Central Sleep Apnea, Bronchogenic Cyst, and Pompe Disease.

      Damara Ortiz
      Experienced in Pompe Disease
      Pediatrics
      Experienced in Pompe Disease
      Pediatrics

      Medical Genetics Metabolic In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Damara Ortiz, MD, specializes in medical genetics and pediatric genetics and genomics and is board-certified in pediatrics by the American Board of Pediatrics and clinical genetics by the American Board of Medical Genetics and Genomics. She is affiliated with UPMC Children's Hospital of Pittsburgh, UPMC Magee-Womens Hospital and UPMC Presbyterian. Dr. Ortiz completed her fellowship at Icahn School of Medicine at Mount Sinai, residency at NYU Langone Medical Center and medical degree from the University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School. Dr. Ortiz is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Gaucher Disease Type 2.

      Pulmonary Medicine
      Pulmonary Medicine

      Harron Lung Center Perelman

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

      Jason Ackrivo is a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Ackrivo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pulmonary Aspergilloma, Aspergillosis, Chronic Obstructive Pulmonary Disease (COPD), and Lung Metastases. Dr. Ackrivo is currently accepting new patients.

      Pulmonary Medicine | Sleep Medicine
      Pulmonary Medicine | Sleep Medicine

      Harron Lung Center University City

      3737 Market Street, 10th Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Arshad Wani is a Sleep Medicine specialist and a Pulmonary Medicine provider in Philadelphia, Pennsylvania. His top areas of expertise are Simple Pulmonary Eosinophilia, Eosinophilic Pneumonia, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Gastrostomy. Dr. Wani is currently accepting new patients.

      Showing 1-20 of 61

      Last Updated: 10/30/2025

      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 

      Read more about our Content Policy

      More Pompe Disease Doctors by city

      Recommended has been selected.