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

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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

MediFind found 34 doctor with experience in Pompe Disease near Massachusetts, US. Of these, 30 are Experienced and 4 are Advanced.

Location
LocationClose
34 providers found
    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Lauren Massingham is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Massingham is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Hypotonia, Thanatophoric Dysplasia, Lysosomal Acid Lipase Deficiency, and Micrognathia. Dr. Massingham is board certified in Pediatrics and Clinical Genetics And Genomics. Dr. Massingham is currently accepting new patients.

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

    Brigham And Womens Hospital

    75 Francis St, 
    Boston, MA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Anthony Amato is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Amato is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 63 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myositis, Polymyositis, Thymectomy, and Gastrostomy. Dr. Amato is board certified in Neurology, 1991 and Neuromuscular Medicine, 2008. Dr. Amato is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Advanced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Umass Memorial Medical Group Inc

    55 Lake Ave N, 
    Worcester, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Worcester, Massachusetts. Dr. Abbott 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 Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Danon Disease, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome). Dr. Abbott is currently accepting new patients.

    Learn about our expert tiers
    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral may be required

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Olaf Bodamer is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Bodamer is rated as an Advanced 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 Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Mucopolysaccharidoses (MPS). Dr. Bodamer is currently accepting new patients.

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

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Christopher Hug is a Pediatric Pulmonologist practicing medicine in Boston, Massachusetts. Dr. Hug is rated as an Advanced 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 Pompe Disease and Cystic Fibrosis.

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

    BIDMC Department Of Neurology

    330 Brookline Avenue, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Seward Rutkove is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Rutkove 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 Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Orchiectomy. Dr. Rutkove is board certified in American Board Of Psychiatry And Neurology. Dr. Rutkove is currently accepting new patients.

    Experienced in Pompe Disease
    Cardiology | Advanced Heart Failure and Transplant Cardiology
    Experienced in Pompe Disease
    Cardiology | Advanced Heart Failure and Transplant Cardiology
    Referral may be required

    Brigham And Womens Physicians Organization Inc

    70 Francis St, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Akshay Desai is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Boston, Massachusetts. Dr. Desai is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Heart Failure with Preserved Ejection Fraction (HFpEF), Heart Failure, Low Blood Pressure, Bone Marrow Aspiration, and Heart Transplant. Dr. Desai is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sacharow is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 159 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

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

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Offers Telehealth

    Melinda Peters is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Peters is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 32 other conditions, according to our data. Her clinical expertise encompasses N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome).

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

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Clinical Genetics And Genomics, and Medical Biochemical Genetics. Dr. Kritzer is currently accepting new patients.

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

    Boston Childrens Heart Foundation Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Wayne Tworetzky is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Tworetzky 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 Omphalocele, Cardiofaciocutaneous Syndrome, Kawasaki Disease, and RASopathies. Dr. Tworetzky is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral required

    Mount Auburn Weight Management Center

    355 Waverley Oaks Rd Ste 100, 
    Waltham, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Raffaella Colzani is an Endocrinologist practicing medicine in Waltham, Massachusetts. Dr. Colzani is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Osteoporosis, Postmenopausal Osteoporosis, Pompe Disease, and Acromegaloid Facial Appearance Syndrome. Dr. Colzani is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Edward Neilan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Neilan is rated as an Experienced 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 Cockayne Syndrome Type 1, Cockayne Syndrome, Cockayne Syndrome Type 2, and Pompe Disease. Dr. Neilan is currently accepting new patients.

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

    Office

    185 Cambridge St, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Kathryn Swoboda is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Swoboda 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 Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Alternating Hemiplegia of Childhood, and Hemiplegia. Dr. Swoboda is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    On Call Urgent Care LLC

    6 Hatfield St, 
    Northampton, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Katherine Atkinson is a primary care provider, practicing in Family Medicine in Northampton, Massachusetts. Dr. Atkinson is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 68 other conditions, according to our data. Her clinical expertise encompasses Asthma, COVID-19, Multisystem Inflammatory Syndrome in Children (MIS-C), Opioid Use Disorder, and Intrauterine Device Insertion. Dr. Atkinson is currently accepting new patients.

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

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Kevin Daly is a Pediatric Cardiologist practicing medicine in Boston, Massachusetts. Dr. Daly is rated as an Experienced 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 Congenital Mitral Stenosis, Hypoplastic Left Heart Syndrome (HLHS), Mitral Atresia, and Restrictive Cardiomyopathy (RCM). Dr. Daly is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Experienced in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    William Brucker is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Brucker 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 Wolman Disease, Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, and Fetal Thalidomide Syndrome.

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

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Rebecca Beroukhim is a Pediatric Cardiologist practicing medicine in Boston, Massachusetts. Dr. Beroukhim is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 64 other conditions, according to our data. Her clinical expertise encompasses Ebstein's Anomaly, Pulmonary Valve Stenosis, Hypoplastic Left Heart Syndrome (HLHS), Myringotomy, and Heart Transplant. Dr. Beroukhim is currently accepting new patients.

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

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Jami Levine is a Pediatric Cardiologist practicing medicine in Boston, Massachusetts. Dr. Levine is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 58 other conditions, according to our data. Her clinical expertise encompasses Marfan Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Mitral Atresia, and Congenital Heart Disease (CHD). Dr. Levine is currently accepting new patients.

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

    Cambridge Health Alliance

    1493 Cambridge St, 
    Cambridge, MA 
    Languages Spoken:
    English

    Jeffrey Salemi is a Pediatrics provider practicing medicine in Cambridge, Massachusetts. Dr. Salemi is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses Pompe Disease.

    Showing 1-20 of 34

    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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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