How do Pombiliti® and Opfolda® work?
ENZYME REPLACEMENT THERAPY (ERT)
Pombiliti® is a synthetic (man-made) version of GAA and it replaces the GAA enzyme which is lacking in people with Pompe disease. It is delivered by an infusion and has been specially designed to target the cells in your muscles.
The enzyme stabiliser
Opfolda® is a capsule that you swallow before your Pombiliti® infusion. It helps to protect Pombiliti® in your bloodstream and ensure that the replacement enzyme gets to where it needs to be, in the muscles, so it can help clear the build-up of glycogen.
Watch the animation below to find out more about how Pombiliti® and Opfolda® work.
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Enzymes are responsible for a range of jobs around the body.
The GAA enzyme can break down glycogen to provide the body with energy.
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When the GAA enzyme does not work correctly, glycogen is not broken down properly and builds up.
This can cause damage to the muscle cells. This may affect strength and breathing.
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Your Pompe disease is being treated with Pombiliti® and Opfolda®.
Once in your bloodstream, Opfolda® will attach to Pombiliti® and stabilise it. Once bound, both Pombiliti® and Opfolda® will travel to the cells that are affected by Pompe disease, including muscle cells.
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They enter your muscle cells and Pombiliti® breaks down the glycogen to prevent it from building up.
How are Pombiliti® and Opfolda® given?
The information on this website is not intended as a substitute for the Patient Information Leaflet (PIL) or advice from your healthcare specialist.
You will usually receive treatment every other week. Your first few infusion will be given to you in hospital.
At a later date, you may be transferred to a homecare provider in your area. This will depend on what your healthcare professional thinks is best for you.
Treatment steps
Step 1: Opfolda® capsules
- You take Opfolda® in capsule form, and you need to fast for two hours before you take Opfolda® and for two hours after.
- Your medical team will decide on the number of 65 mg capsules you need to take, based on your body weight.
- The capsules should be swallowed whole, not cut, crushed or chewed.
Step 2: Pombiliti® intravenous infusion
- About an hour after taking the Opfolda® capsules, your Pombiliti® infusion will start. The infusion is delivered to your body via one of your veins. This takes about four hours.
- The infusion rate will start off slowly and then increase gradually.
- Always ask your healthcare team if you have any questions or concerns during your infusion.
Step 3: While you relax, your two treatments work as a team
- Once inside the bloodstream, Opfolda® attaches to Pombiliti®, which helps to stabilise it. Together they travel through your bloodstream to the cells that need them – including your muscle cells.
- Once in the cells, Pombiliti® helps break down glycogen and control its levels.
Treatment schedule
Example Pombiliti® and Opfolda® treatment scheduleThe timeline below shows an example of how you may build taking your Pombiliti® and Opfolda® schedule into your normal daily routine. You may find another time of day suits your schedule better.
Pombiliti® and Opfolda® treatment planner
Select the start date and time of your POMBILITI® infusion in the box below. Click ‘Create schedule’ to see when you should start and stop fasting and take your OPFOLDA® capsules.
Your treatment schedule:
| Start fasting: | |
| Take Opfolda® capsules: | |
| Start infusion: | |
| Stop fasting: | |
| Finish infusion: |
Did you know that whilst fasting, you are allowed to drink water, fat-free (skimmed) cow’s milk, and tea or coffee with no cream, sugars, or sweeteners?
Answers to some common questions
What to do if I take my Opfolda® capsules at the wrong time
If you take your Opfolda® capsules at the wrong time, speak to your healthcare professional. The infusion can be delayed up to three hours from when you took your Opfolda® capsules.
What to do if I take too many Opfolda® capsules
If you accidentally take more capsules than you were prescribed, you may be at increased risk of experiencing side-effects with this medicine. Contact your healthcare professional immediately or go to the hospital.
What to do if I miss a Pombiliti® dose
If you may miss or have missed the time by which the infusion was supposed to be started, please speak to your healthcare professional immediately.
What drinks can I have whilst I’m fasting?
You may drink water, fat-free (skimmed) cow’s milk, and tea or coffee with no cream, sugars, or sweetener.
Ongoing treatment and monitoring
At your review appointments, your healthcare professionals will ask you to complete some tests so that they can assess how well Pombiliti® and Opfolda® are working. These may include:
- Walking tests – for example the 6-minute walk test in which they measure how far you can walk in 6 minutes
- Breathing tests – for example ‘forced vital capacity’ or FVC, in which they measure how much air you can quickly blow out after taking a deep breath.
They may also ask you to rate your fatigue, or tiredness, and pain symptoms by answering a number of questions.
Side Effects
If you get any side effects, talk to your doctor or nurse immediately. A full list of possible side effects can be found in the Patient Information Leaflet (PIL) for Pombiliti® and Opfolda®.
Side effects can occur with either Pombiliti® or Opfolda®. Side effects were mainly seen while patients were being infused with Pombiliti® (infusion-related effects) or shortly after.
You must tell your doctor immediately if you get an infusion-associated reaction or an allergic reaction. Some of these reactions may become serious and life-threatening. Your doctor may give you medicines before your infusion to prevent these reactions.
Infusion-associated reactions
Most infusion-associated reactions are mild or moderate. Symptoms of infusion-associated reaction may include difficulty breathing, bloating, fever, chills, dizziness, skin redness, itchy skin, and rash.
Allergic reactions
Allergic reactions may include symptoms such as rash anywhere on the body, puffy eyes, prolonged difficulty breathing, cough, swelling of the lip, tongue, or throat, itchy skin, and hives.
Some other side effects of Pombiliti® and Opfolda® are:
Pombiliti®: chills, dizziness, sudden reddening of the face, neck of upper chest (flushing), feeling tired all the time or feeling sleepy, pain in chest, cough, swelling or pain in the body area where the needed was inserted, and pain.
Opfolda®: constipation.
Pregnancy and breast-feeding
If you are pregnant or breast-feeding, think you may be pregnant, or are planning to have a baby, do not take this medicine but talk to your doctor or pharmacist immediately for advice before using this medicine.
There is no experience with the use of Pombiliti® in combination with Opfolda® during pregnancy.
- You should not receive Pombiliti® and / or take Opfolda® 65 mg hard capsules if you are pregnant. Be sure to tell your doctor immediately if you get pregnant, think that you may be pregnant, or if you are planning to become pregnant. There may be risks to the unborn baby.
- Pombiliti® in combination with Opfolda® should not be given to women who are breast-feeding. A decision will need to be made whether to stop treatment or to stop breast-feeding.
Contraception and fertility
Female patients of childbearing potential must use reliable birth control methods during and for 4 weeks after stopping both Pombiliti® and Opfolda®.
NP-AT-GB-00011124 | November 2024
References
- Summary of Product Characteristics. Pombiliti 105 mg powder for concentrate solution for infusion. Amicus Therapeutics Ltd. Available at: https://www.medicines.org.uk/emc/product/14898#gref Accessed: October 2024.
- Summary of Product Characteristics. Opfolda 65 mg hard capsules. Amicus Therapeutics Ltd. Available at: https://www.medicines.org.uk/emc/product/14904#gref Accessed: October 2024.
- National Organization for Rare Disorders. Pompe Disease. 2024. Available at: https://rarediseases.org/rare-diseases/pompe-disease/ Accessed: October 2024.
- Meena, N.K., Ralston, E., Raben, N. and Puertollano, R. Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease. Mol Ther Methods Clin Dev. 2020;18:199–214.
- Schoser B., van der Beek, N.A.M.E., Broomfield, A. et al. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. Eur J Neurol. 2024;31:e16383.