The 20 Best Pompe Disease Doctors in The United Kingdom

Find the Top Pompe Disease Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 67 doctor with experience in Pompe Disease near The United Kingdom. Of these, 41 are Experienced, 17 are Advanced, 8 are Distinguished and 1 are Elite.

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67 providers found
    Elite in Pompe Disease

    Jordi Manera-Diaz
    Elite in Pompe Disease

    Jordi Manera-Diaz
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Jordi Manera-Diaz practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Manera-Diaz is rated as an Elite expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 23 other conditions, according to our data. Their clinical expertise encompasses Pompe Disease, Limb-Girdle Muscular Dystrophy, Dysferlinopathy, and Delta-Sarcoglycanopathy.

    Distinguished in Pompe Disease

    Pierre G. Carlier
    Distinguished in Pompe Disease

    Pierre G. Carlier
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Pierre Carlier practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Mr. Carlier is rated as a Distinguished expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Dysferlinopathy, Miyoshi Myopathy, Duchenne Muscular Dystrophy, and Limb-Girdle Muscular Dystrophy.

    Distinguished in Pompe Disease

    Simon Shohet
    Distinguished in Pompe Disease

    Simon Shohet
    Referral may be required
    Marlow, ENG, GB 

    Simon Shohet practices practicing medicine in Marlow, United Kingdom. Mr. Shohet is rated as a Distinguished expert 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, Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, and Hypophosphatasia (HPP).

    Learn about our expert tiers
    Distinguished in Pompe Disease

    Alexander A. Broomfield
    Distinguished in Pompe Disease

    Alexander A. Broomfield
    Referral may be required
    Oxford Road, 
    Manchester, ENG, GB 

    Alexander Broomfield practices practicing medicine in Manchester, United Kingdom. Mr. Broomfield is rated as a Distinguished expert 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 Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Argininosuccinic Aciduria, and Bone Marrow Transplant.

    Distinguished in Pompe Disease

    Volker W. Straub
    Distinguished in Pompe Disease

    Volker W. Straub
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Volker Straub practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Mr. Straub is rated as a Distinguished expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Limb-Girdle Muscular Dystrophy, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Cramp-Fasciculation Syndrome.

    Distinguished in Pompe Disease

    Emmanuelle Campana-Salort
    Distinguished in Pompe Disease

    Emmanuelle Campana-Salort
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Emmanuelle Campana-Salort practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Campana-Salort is rated as a Distinguished expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Dysferlinopathy, Limb-Girdle Muscular Dystrophy, Pompe Disease, and Thymectomy.

    Distinguished in Pompe Disease

    James E. Davison
    Distinguished in Pompe Disease

    James E. Davison
    Referral may be required
    Great Ormond Street Hospital Biomedical Research Centre, 
    London, ENG, GB 

    James Davison practices practicing medicine in London, United Kingdom. Mr. Davison is rated as a Distinguished expert 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 Pompe Disease, Mucopolysaccharidoses (MPS), Congenital Aneurysms of the Great Vessels, and Argininosuccinic Aciduria.

    Distinguished in Pompe Disease

    Robin H. Lachmann
    Distinguished in Pompe Disease

    Robin H. Lachmann
    Referral may be required
    Queen Square, 
    London, ENG, GB 

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

    Distinguished in Pompe Disease

    Elena Pegoraro
    Distinguished in Pompe Disease

    Elena Pegoraro
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Elena Pegoraro practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Pegoraro is rated as a Distinguished expert 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 Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Spinal and Bulbar Muscular Atrophy, Primary Lateral Sclerosis, and Thymectomy.

    Advanced in Pompe Disease

    Claudio Semplicini
    Advanced in Pompe Disease

    Claudio Semplicini
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Claudio Semplicini practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Mr. Semplicini is rated as an Advanced expert 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 Pompe Disease, Delta-Sarcoglycanopathy, Limb-Girdle Muscular Dystrophy, and Dysferlinopathy.

    Advanced in Pompe Disease

    Ian Keyzor
    Advanced in Pompe Disease

    Ian Keyzor
    Referral may be required
    Fieldhouse Lane, 
    Marlow, ENG, GB 

    Ian Keyzor practices practicing medicine in Marlow, United Kingdom. Mr. Keyzor is rated as an Advanced expert 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, Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, and Fabry Disease.

    Advanced in Pompe Disease

    Chris Y. Mason
    Advanced in Pompe Disease

    Chris Y. Mason
    Referral may be required
    London, ENG, GB 

    Chris Mason practices practicing medicine in London, United Kingdom. Mr. Mason is rated as an Advanced expert 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, Gaucher Disease Type 1, Gaucher Disease, and Fabry Disease.

    Advanced in Pompe Disease

    Derralynn A. Hughes
    Advanced in Pompe Disease

    Derralynn A. Hughes
    Referral may be required
    UCL Queen Square Institute Of Neurology, 
    London, ENG, GB 

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

    Advanced in Pompe Disease

    Jean-yves Y. Hogrel
    Advanced in Pompe Disease

    Jean-yves Y. Hogrel
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Jean-yves Hogrel practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Hogrel is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 19 other conditions, according to our data. Their clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Dysferlinopathy, and Inclusion Body Myositis.

    Advanced in Pompe Disease

    Esther Simon-Fernandez
    Advanced in Pompe Disease

    Esther Simon-Fernandez
    Referral may be required
    Newcastle Upon Tyne, ENG, GB 

    Esther Simon-Fernandez practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Simon-Fernandez is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Pompe Disease, and Dysferlinopathy.

    Advanced in Pompe Disease

    Carmen Paradas
    Advanced in Pompe Disease

    Carmen Paradas
    Referral may be required
    Central Parkway, 
    Newcastle Upon Tyne, ENG, GB 

    Carmen Paradas practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Paradas is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Limb-Girdle Muscular Dystrophy, Dysferlinopathy, Miyoshi Myopathy, Rigid Spine Syndrome, and Thymectomy.

    Advanced in Pompe Disease

    Alasdair Macculloch
    Advanced in Pompe Disease

    Alasdair Macculloch
    Referral may be required
    Marlow, ENG, GB 

    Alasdair Macculloch practices practicing medicine in Marlow, United Kingdom. Mr. Macculloch is rated as an Advanced expert 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 Fabry Disease.

    Advanced in Pompe Disease

    Matthew J. Walton
    Advanced in Pompe Disease

    Matthew J. Walton
    Referral may be required
    York, ENG, GB 

    Matthew Walton practices practicing medicine in York, United Kingdom. Mr. Walton is rated as an Advanced expert 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, Diabetic Retinopathy, Diabetic Macular Edema (DME), and Thymectomy.

    Advanced in Pompe Disease

    Mark S. Corbett
    Advanced in Pompe Disease

    Mark S. Corbett
    Referral may be required
    York, ENG, GB 

    Mark Corbett practices practicing medicine in York, United Kingdom. Mr. Corbett is rated as an Advanced expert 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 Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Nasal Polyps, Pompe Disease, and Sinusitis.

    Advanced in Pompe Disease

    Shanquan Y. Chen
    Advanced in Pompe Disease

    Shanquan Y. Chen
    Referral may be required
    London, ENG, GB 

    Shanquan Chen practices practicing medicine in London, United Kingdom. Mr. Chen is rated as an Advanced expert 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 Dementia, Pompe Disease, COVID-19, and Severe Acute Respiratory Syndrome (SARS).

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-20 of 67

    Last Updated: 06/30/2026

    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 The United Kingdom?

    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 The United Kingdom?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How do I find the best Pompe Disease doctor in The United Kingdom?

    You can find a Pompe Disease doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Pompe Disease doctors in The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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 The United Kingdom?

    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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