ERT home infusions: Everything you need to know

Last updated April 22, 2024, by Marisa Wexler, MS
Fact-checked by Patrícia Silva, PhD

Enzyme replacement therapy, or ERT, is currently the only available type of approved Pompe disease treatment that addresses the condition’s underlying cause.

Pompe is caused by genetic mutations that affect the production of the enzyme acid alpha-glucosidase (GAA). GAA is needed to break down a complex sugar molecule called glycogen. When there is a deficiency in GAA, glycogen builds up to toxic levels in cells, especially in muscle cells, and Pompe symptoms develop.

A few enzyme replacement therapy drugs are currently available for Pompe. All are designed to deliver a working version of the GAA enzyme to the body’s cells. The functional enzyme delivered by ERTs can help clear toxic glycogen buildup and slow down the progression of Pompe.

How is ERT administered in Pompe?

All currently available ERTs for Pompe disease are administered by intravenous infusion, in which a needle is inserted into a vein and then the therapy is given through the needle as a slow drip into the bloodstream. People with Pompe disease who receive regular infusions may have a port inserted under their skin for easier access to the vein.

ERT infusions are usually given every other week. Each infusion generally takes about four to seven hours, although it can vary depending on the specific medication and infusion rate. Additional time also is needed before and after the procedure.

Infusions of ERTs should always be done under the supervision of a trained healthcare professional. Generally, these infusions are given in a healthcare setting, such as at a doctor’s office, hospital, or infusion center. The National Infusion Center Association maintains a database of infusion centers in the U.S., and has a tool for finding infusion centers based on the specific medications they can administer.

In some specific cases, Pompe ERT infusions may be done at home. Typically, a healthcare professional brings all the needed equipment for the infusion.

ERT home infusions, including for Pompe disease, have become more common as a result of the COVID-19 pandemic.

Potential benefits of home infusions

Similar to how it is in a hospital or center, a home infusion is done under strict protocols that help guarantee patient safety. Monitoring before, during, and after the infusion is required.

While the safety of home infusions are supported by studies, the main benefit is that they are done at home. It allows people to avoid the hassle of traveling to get their infusions. It’s also more comfortable to be at home.

People with Pompe who switch to getting home infusions frequently report that it is more convenient, has less impact on their daily life, and makes it easier to manage the disease. For these reasons, home infusions have the potential to increase a person’s autonomy and contribute to a higher treatment satisfaction.

It also is important to understand the financials of treatment when deciding where to get the infusions. There may be a difference in cost for at home versus outside the home such as a center, based on the specifics of health insurance coverage.

The U.S. Centers for Medicare and Medicaid Services offers a searchable database of U.S. companies that provide home infusions for Pompe ERT and other medications.

Potential risks

Enzyme replacement therapies for Pompe disease, like any medication, may have side effects. Pompe ERTs can cause infusion-associated reactions, which include side effects such as nausea, fever, itching, rash, coughing, and allergic reactions. They may start during or shortly after the infusion. In rare cases, these reactions can be serious or even life-threatening.

During an infusion, a healthcare provider will monitor for potential problems. If there is an issue, the infusion may be slowed or stopped and supportive treatment may be given.

The biggest risk with home infusions is that there is less access to supportive treatment in a person’s home than at a healthcare center. If there is a problem during a home infusion, especially a serious one, it may be harder to resolve than if it happened in a healthcare setting.

Based on this risk, it’s generally recommended that patients always receive their first several infusions at a healthcare center where supportive care is on standby. Home infusions are generally only considered as an option if a person has received at least a few infusions at a center without experiencing any issues. Studies suggest the risk of future reactions with home infusions is low in these patients.

Still, there is always a risk — infusion reactions, including serious reactions, can still occur in patients who have previously tolerated infusions well. So it’s crucial that there is easy access to supportive treatment that can be given at home if needed.

Similarly, if a person is switching from one ERT drug to another, they’ll usually need to do at least the first few infusions of the new therapy at a healthcare center, even if they’d previously had home infusions.

How can a caregiver help with home infusions?

Whether an infusion is given at home or in a center, caregivers play an important role. For Pompe Disease News columnist Keara Engle, helping with home infusions for her son Cayden includes:

• communicating with providers and coordinating with nurses to schedule infusions and establish a routine
• helping monitor for potential side effects during infusions
• getting out supplies so they’re ready when time comes for the infusion
• putting numbing cream on Cayden’s port so it’s less painful to access
• setting up a comfortable space and dressing Cayden in comfortable clothes
• helping Cayden stay entertained with toys, games, and TV.

“A typical infusion day lasts about six hours. It’s become a part of our routine. We’ve developed a great relationship with our infusion nurse,” Engle wrote in a 2021 column. According to her, it’s very important to have a good relationship with the healthcare professional administering the treatment as they become “pretty involved in your life.”

“Although infusions were scary in the beginning,” she said, “I am thankful that we have this option.”

Note: 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. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.