Treatment and Medication Options for Pompe Disease
The modern treatment of Pompe disease relies utterly on enzyme replacement therapy, though people with the condition may also require or benefit from a wide variety of supportive care measures to help with disease symptoms and complications such as mobility and breathing issues.
Enzyme Replacement Therapy
The one essential treatment for every form of Pompe disease is enzyme replacement therapy. This medication uses synthetic enzymes that have been designed to do the job of your missing or deficient GAA enzymes, helping your body to process glycogen.
Enzyme replacement can slam the brakes on physical decline, slowing, halting, or even slightly reversing the development of breathing problems and mobility challenges. In infants, enzyme replacement therapy can also rapidly reverse a life-threatening thickened heart.
- Alglucosidase Alfa (Myozyme/Lumizyme) This is the original enzyme replacement therapy for Pompe disease and remains the first-line therapy for most people with the condition; it is still the only treatment approved for infants with Pompe disease.
- Avalglucosidase Alfa (Nexviazyme) This is a newer enzyme replacement that targets the muscles more effectively and may deliver superior breathing and mobility improvements to people with LOPD.
- Cipaglucosidase Alfa + Miglustat (Pombiliti + Opfolda) This is the newest treatment for LOPD, which combines an enzyme with a stabilizer, and it is approved for adults who are not improving on a different form of enzyme replacement therapy.
These drugs require a lifelong commitment to regular lengthy infusion sessions. The medications are delivered through a slow intravenous drip, which requires sitting still for a period of up to seven hours, whether at home, in a hospital, or in a specialized infusion center, generally once every two weeks.
Enzyme replacement therapy is not a cure-all for Pompe disease. Some people who respond well to the treatment will still experience health declines over the years. These medications are too new to know what their overall effect on life expectancy is.
Immune Tolerance Induction for CRIM-Negative IOPD
Infants who are CRIM-negative lack any GAA at all, and their immune systems will identify enzyme replacements as invaders to be attacked. These children require a protocol named immune tolerance induction to retrain their bodies to accept life-saving enzyme replacement therapy. While beginning enzyme replacement therapy, CRIM-negative infants will also need a number of additional medications to target different parts of the immune system.
Supportive Care
In addition to ERT, your care team — including cardiologists, respiratory therapists, and neurologists, among others — can help you come up with a treatment plan that manages your symptoms and provides any supportive care you may need, such as assistance with mobility and maintaining healthy breathing.
- Breathing support, including supplemental oxygen or breathing devices such as the use of a BiPAP machine overnight
- Physiotherapy to improve muscle strength and function
- Occupational therapy to maintain independence in daily activities such as dressing and eating
- Speech therapy to make speaking and swallowing easier
- Adaptive mobility devices such as walkers, canes, or wheelchairs
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