If you or someone you know has Fabry disease, you may have heard of Galafold. This is the first and only medicine for Fabry disease that can be taken by mouth. Other treatments for Fabry disease, called enzyme replacement therapy, are injected into the body.
Galafold is a type of “chaperone” therapy, which means that it works very differently than enzyme replacement therapy. Although it doesn’t work for all types of Fabry disease, it may be a helpful option for people with certain types of mutations in the gene that causes this condition.
How Does Galafold Work for Fabry Disease?
Fabry disease is a rare inherited condition that is passed down from parents to their children. In people with Fabry disease, a specific enzyme called alpha-galactosidase A (alpha-gal) does not work the way that it should. This is because there is a mutation in the gene that codes for alpha-gal.
Alpha-gal is an important enzyme found in many cells in the body. It breaks down a fatty substance called GL-3. When the enzyme does not work the way that it should, GL-3 builds up in the body’s cells. Over time, this can cause serious health issues in many parts of the body, including the kidneys, heart, skin, brain, and nervous system.
There are two main types of Fabry disease:
- Classic: This is the more serious form of the condition, and people with “classic” disease usually have symptoms during childhood. Some of these symptoms include burning and tingling pain in the hands and feet, issues with the stomach and gut, and red-purple spots on the skin between the bellybutton and the knees. Some people may also not sweat as much as they should, which can cause dry skin and make them very sensitive to heat. Many people with this condition also get gray, brown, or yellow streaks over the eye.
- Late-onset: This is the most common form of Fabry disease. It is a milder form than classic disease. Even though Fabry disease is present at birth, people with this form of the condition usually do not have symptoms as children. Instead, they may not have symptoms until they are in their 30s or even later.
As people with Fabry disease get older, GL-3 continues to build up in their cells. This causes more serious health issues over time. Many people with Fabry disease develop kidney issues, which can lead to kidney failure. Fabry disease can also damage the heart and blood vessels, which can cause heart issues and increase the risk of a heart attack or stroke. Some people also develop hearing problems.
The key to treating Fabry disease is to provide the body with a form of alpha-gal that works correctly. This does not reverse any damage that has already been caused by GL-3, but it can help to prevent future damage. Many people with this condition will receive enzyme replacement therapy. With this therapy, a working form of the enzyme is injected into the body. The body is able to use this working enzyme to break down GL-3 so that it does not build up in the cells.
Galafold also allows the body to use alpha-gal, but it works very differently than enzyme replacement therapy. The active ingredient in Galafold is a medicine called migalastat, which binds to unstable alpha-gal. Alpha-gal that is unstable does not work as well as it should. When Galafold binds to alpha-gal, it stabilizes the enzyme so that it can work correctly. Since this medicine works by supporting alpha-gal, it is sometimes called “chaperone therapy.”
Can Anyone With This Condition Use Galafold?
Galafold can only be used by people who have a certain type of mutation in the gene that codes for alpha-gal. This type of mutation creates a form of alpha-gal that can still work but is too unstable to work correctly. Galafold binds to this type of alpha-gal, making it stable enough to work the way it is supposed to.
Some people with Fabry disease have mutations that cause the body to have no alpha-gal or to have a form of alpha-gal that does not work at all. These people should not use Galafold because it will not allow them to break down GL-3. Instead, they should discuss enzyme replacement therapy with their health care team.
Before your health care provider prescribes Galafold, they will run a test to see which mutations you have. They may work with a genetic specialist to decide whether it will be helpful for you.
How Was It Studied for Treating Fabry Disease?
One small clinical study was done to see if Galafold was safe and effective for the treatment of Fabry disease. All people in this study had a genetic test confirming Fabry disease. Their genetic tests also showed that they had a type of alpha-gal that could respond to treatment with Galafold. The people in the study were 16 years and older, with an average age of 43 years. Most of them (64%) were female.
On average, the people in the study had been diagnosed with Fabry disease for about 8 years. Almost everyone in the study (94%) had symptoms of Fabry disease in two parts of the body, and almost all of them (90%) had a history of kidney issues. Most of the people in the study (78%) had never received enzyme replacement therapy before. Anyone who had received it before had not had it in the past 6 months.
Galafold was compared with a placebo. The people in the study did not know whether they were receiving the drug or the placebo. If anyone was taking medicine to help protect their kidneys, they were told to continue taking that medicine during the study.
This study measured efficacy by measuring the levels of GL-3 in the kidneys. These measures were taken before the study started and again after 6 months into the study.
What Benefits Were Seen in These Clinical Studies?
The amount of GL-3 in the kidneys. The amount of GL-3 in the kidneys after 6 months of the study was compared to the amount of GL-3 found in the kidneys before the study started.
- After 6 months, the people who used Galafold had less GL-3 in their kidneys, on average, than they did before the study started. The people who used a placebo had slightly more GL-3 in their kidneys, on average, than they did before the study started.
- The study counted how many people had their GL-3 levels drop by at least half after 6 months. This happened in 52% of people who used Galafold and 45% of people who used a placebo.
The serious health issues caused by Fabry disease take many years to develop. The clinical study that was used to evaluate Galafold only lasted 2 years.
Another clinical study is currently being done to see if taking Galafold reduces the risk of serious health issues over time. This study is monitoring kidney function, heart function, stomach problems, and other symptoms over a few years. Once that study is complete, your health care team will be able to give you more information on how well Galafold may work to reduce your risk of serious health issues over time.
How Quickly Will Galafold Work for Fabry Disease?
Some of the more serious health issues caused by Fabry disease take many years to develop. Even once these issues begin to develop, it may take many more years before they become serious, causing issues such as kidney failure, stroke, or heart attack.
Even if Galafold is working the way that it should, you may not be able to tell. It may not make your existing symptoms better. Instead, it should help to keep your symptoms from getting worse over time. Your health care team will monitor your symptoms and the function of different organs in your body, such as your kidneys and your heart.
If you are concerned that Galafold is not working for you, do not stop using it without talking to your health care provider first. Your health care provider can review the way that your symptoms have changed over time and see how well your kidneys and heart are working. This will allow them to determine whether it is working for you.
How Do I Use It?
Galafold is a capsule that is taken by mouth once every other day. It should be taken at the same time of day each time. For example, if it is taken at 8 in the morning on the first day, it should be taken at 8 in the morning the next time as well.
In order to get the full dose of Galafold, it must be taken on an empty stomach. You should not eat anything within 2 hours before taking the medicine or 2 hours after taking the medicine. You should also not drink anything with caffeine for 2 hours before and 2 hours after taking the medicine. During this time, you can have other drinks, such as plain or flavored water, fruit juice without the pulp, or caffeine-free carbonated beverages.
The capsules are provided in a special way to help you keep track of your doses. This special packaging is called a blister card, and each card contains enough capsules for 4 weeks of treatment. At the beginning of the card is a place where you can track the date that you took your first dose. There are also empty circles on the card between each capsule. These circles are there to remind you to only take Galafold every other day.
When you take a dose, you will pop the capsule out of the card, leaving an empty space. The next day, when there is no dose to take, you will pop out the circle, leaving another empty space. By doing this, you mark off each day on your card. This way, when you come back the next day, you will know whether it is time to take another dose or not.
Your prescription should come with “Instructions for Use,” which explains how to take a dose and use the blister card. Ask your pharmacist or other health care provider if you are unsure how to take Galafold.
How Can I Prevent or Manage Side Effects?
People who use Galafold may be more likely to have infections of the airways. These include infections in the nose or throat, a sore throat, or common cold symptoms. The best way to prevent infection is to reduce your exposure to germs by washing your hands and avoiding people who are sick. You should also stay current on vaccinations, such as getting an annual flu vaccine.
This medicine may also make people more likely to have an infection in the kidney or bladder (urinary tract infection). The best way to prevent these infections is to follow the best hygiene practices, drink plenty of fluids, and use the bathroom on a regular basis.
These are not all of the possible side effects. Talk with your health care provider if you are having symptoms that bother you. If you experience anything that you think may be caused by Galafold, you can also report side effects to the FDA at 800-FDA-1088 (800-332-1088).
Are There Any Interactions With Other Medicines?
Caffeine can lower the blood levels of Galafold, which may make it less effective. Make sure that your health care provider knows if you are using any products that contain caffeine. Caffeine is often found in products for staying awake, reducing weight, headache relief, and hangover relief.
Tell your pharmacist or health care provider about all the prescription or over-the-counter (OTC) medicines, vitamins/minerals, herbal products, or other supplements you take or have recently taken. This will help them to determine the best treatment plan for you.
Is There a Coupon Card Available?
There is a savings coupon available from the drugmaker that may allow you to pay $0 for your prescription. Whether you are eligible depends on whether you have prescription insurance, and what type of insurance you have. You can find out more at https://galafold.com/patients/videos-and-resources/amicus-assist.php.
For questions about cost, insurance coverage, or anything else, you can contact the drugmaker at 877-426-4287 or visit www.galafold.com.