This website is only intended for people who have been prescribed Pombiliti® (cipaglucosidase alfa) + Opfolda® (miglustat) in GB (England, Scotland and Wales). If you have not been prescribed Pombiliti® + Opfolda®, click here.

Pompe Patient

Support & resources

Patient Resources

Amicus have developed a range of materials to help support you with your Pompe disease.

The information on this website is not intended as a substitute for the Patient Information Leaflet (PIL) or advice from your healthcare specialist.

Working Together: The simple guide to taking Pombiliti® and Opfolda®

Request this resource to better understand your treatment. The guide covers why you’ve been prescribed Pombiliti® and Opfolda®, how the treatment works and how you should take the medication. It also includes answers to frequently asked questions.

Contact Us

Fasting Planner: Support your routine

Request this tool to help work out when you must begin fasting, take your Opfolda® capsules and when to stop fasting.

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Video: Wayne’s Pompe Story

Watch this video to hear about Wayne’s experiences with Pompe disease and receiving treatment with Pombiliti® and Opfolda®.

Click or tap on the image to play, and use the controls to watch fullscreen.

Video: How Pombiliti® and Opfolda® work

Watch this animation to learn how Pombiliti® and Opfolda® work.

Click or tap on the image to play, and use the controls to watch fullscreen.

AGSD

The AGSD (Association for Glycogen Storage Disease) is the national support group for those affected by Glycogen Storage Disease (GSD) and their families. They help by putting people in contact, providing information and support, publishing a magazine and holding conferences, workshops, courses and family events.

Go to website

Pompe Support Network

The Pompe Support Network is a network of individuals, families, scientists, and healthcare professionals who aim to improve the lives of all people living and working with Pompe disease. The network is run by members of the Pompe community, for the benefit of the Pompe community.

Go to website

Glossary

Apnoea (ap-nee-uh)
A disorder in which breathing stops and starts during sleep.
Autosomal (auto-so-mal) recessive
Disorder caused by the inheritance of two mutated copies of a single gene
Biopsy (by-op-see)
Medical procedure that involves taking a small sample of body tissue so it can be examined under a microscope
Cell
Basic building block of all living things
Enzyme
A special type of protein that speeds up a reaction that takes place within a cell
GAA
Acid-alpha glucosidase, an enzyme involved in breaking down glycogen within cells
Gene
A section of genetic material which provides instructions for a specific function within the body
Glycogen (Gli-co-gen)
Complex sugar molecule and energy source
Glycogen storage disorders
A group of inherited disorders in which glycogen cannot be broken down properly
Infusion
A method of administering fluids into the bloodstream
Late-onset Pompe disease
Type of Pompe disease that typically emerges during childhood or adulthood
Lysosomal (Li-so-so-mal) storage disorders
A group of over 50 diseases resulting from the accumulation of waste products in lysosomes
Lysosome (Li-so-some)
A specialised fluid-filled sac found in cells that contains enzymes
MRI
Magnetic resonance imaging – a type of scan which produces detailed images of inside the body
Mutation (Mu-tay-shun)
A permanent error in a gene
Osteoporosis (o-stee-ow-puh-row-suhs)
A health condition where bones become weak and fragile.
Scoliosis (sko-lee-ow-suhs)
Abnormal curvature of the spine.
Tissue
A group of cells in your body that have a similar structure and perform a similar function.

NP-AT-GB-00020824 | September 2024