Enzyme Replacement Therapy for Pompe Disease – What to Keep in Mind

Enzyme Replacement Therapy for Pompe Disease – What to Keep in Mind
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Enzyme replacement therapy (ERT)  such as Lumizyme is the first-line treatment for Pompe disease, a rare genetic disorder characterized by the buildup within cells of a large, complex sugar molecule.

That sugar molecule, called glycogen, accumulates within the cells in people with Pompe due to the deficiency of an enzyme called acid alpha-glucosidase. The buildup of glycogen inside cells and tissues leads to symptoms that can include muscle weakness, motor difficulties, poor reflexes, abnormal spine curvature (scoliosis), and heart muscle damage.

As the first-line therapy, ERT is started as soon as the diagnosis has been confirmed. While ERT is generally safe, here are a few things to keep in mind when considering the therapy as a treatment for Pompe disease.

Prepare yourself for long-term therapy

A typical ERT session can last for a couple of hours and is needed once every two weeks. ERT is not a cure but a maintenance therapy for Pompe disease that prevents glycogen build-up. It is important to be prepared to undergo the treatment regularly for the rest of your life without missing an infusion except in rare circumstances.

It is a good idea to talk to your doctor about the possible side effects of the treatments. You also may want to seek advice from support groups.

Think about your finances

ERT can be very expensive so it is important to think about your finances and plan accordingly. Usually, health insurances cover the majority of the expenses, but it is always wise to have enough funds for contingencies.

Supplement ERT with proper diet

ERT can be more efficient when supplemented with a proper diet. A high-protein, low-carbohydrate diet is usually recommended for people with Pompe disease to improve metabolism and help in muscle repair.

Exercise well

Combining exercise with ERT can boost cellular metabolism and prevent muscle wastage. Exercise also can be a good stress-buster. However, it is important to ensure that exercise is done in moderation and in consultation with a physiotherapist to prevent injury.

Monitor yourself constantly for immune reactions

Since the enzyme being replaced in ERT is essentially a protein, the body can mount an immune response against it and reduce its efficacy. In rare cases, this can lead to anaphylaxis, a life-threatening allergic reaction. Monitor yourself constantly and consult your doctor immediately if you notice signs of immune reactions such as rash, fever, or hives.

Know your “CRIM status”

Knowing your cross-reactive immunologic material (CRIM) status — how much alpha-glucosidase activity you have — is important to predict the possible outcomes of ERT.

About 20% of infantile-onset Pompe disease patients are known to be CRIM-negative, meaning they have no alpha-glucosidase activity at all. In these patients, the administration of ERT can result in a possible immune reaction and poor response to therapy, necessitating pretreatment with immuno-modulating medication.

CRIM-positive patients, on the other hand, have at least 1% of alpha-glucosidase activity and therefore, respond better to ERT compared with CRIM-negative patients.

 

Last updated: Jan 1, 2020

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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.

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