If you or someone you know has Fabry disease , you've probably heard of a drug called Galafold. It's the first and only oral drug for Fabry disease. Other treatments for Fabry disease, such as enzyme replacement therapy, are given by injection. Galafold is a type of "chaperone" therapy that works in a completely different way. It doesn't work for all types of Fabry disease. However, it can be very helpful for people with certain mutations in the gene that causes the disease.
What is Fabry disease? How does Galafold work?
Simply put, Fabry disease is a rare genetic condition that is passed down from parent to child. People with Fabry disease have an enzyme called alpha-galactosidase A (alpha-gal) in their bodies. But this enzyme doesn't work properly. This is because there is a mutation in the gene that tells it to make this enzyme.
Alpha-gal is a very important enzyme found in many cells in our body. Its main function is to break down a fatty substance called GL-3 . So, when this enzyme does not work properly, the substance called GL-3 starts to accumulate inside the body's cells. Over time, this accumulation can cause serious damage to important parts of the body, such as the kidneys , heart , skin, brain, and nervous system .
There are two main types of Fabry disease.
| Disease type (Type) | Description & Symptoms |
|---|---|
| Classic type | This is the most severe form of the disease. Symptoms usually appear in childhood. You may experience pain, such as burning and numbness in the hands and feet, stomach and digestive problems, and red-purple patches of skin between the navel and the knees. Some people may also experience decreased sweating, dry skin, and extreme sensitivity to heat. |
| Late-onset type | This is the most common type of Fabry disease. It is milder than the classic form. Although the disease is present from birth, symptoms do not appear during childhood. Instead, symptoms begin to appear in the 30s or later. |
As people with Fabry disease age, GL-3 continues to accumulate in their cells. This can lead to serious health problems over time. Many people develop kidney problems, which can eventually lead to kidney failure . The disease can also damage the heart and blood vessels , increasing the risk of heart attack or stroke.
The main goal of treating Fabry disease is to provide the body with a functioning `alpha-gal` enzyme. While this does not reverse the damage that has already occurred, it helps prevent future damage.
Many people are given Enzyme Replacement Therapy (ERT) for this. This involves injecting a well-functioning enzyme produced externally into the body. The body is then able to use that enzyme to break down GL-3.
However, Galafold works in a completely different way. The active ingredient in Galafold is a drug called `migalastat`. What it does is, it attaches to the `alpha-gal` enzyme that is present in the patient's own body, but is unstable. Imagine that the `alpha-gal` enzyme in your body is a little 'swollen', 'unstable'. Therefore, it cannot work properly. What the drug called Galafold does is, like a friend, it attaches to this 'swollen' enzyme and 'stabilizes' it. Then that enzyme can do its job properly. This is what we call "Chaperone Therapy" .
Can everyone use Galafold?
No. Galafold can only be used in people who have a specific type of amenable mutation in the gene that makes the `alpha-gal` enzyme. The `alpha-gal` enzyme that is produced by this mutation is still able to work, but it is too unstable to work properly. Galafold attaches to that enzyme, stabilizes it, and makes it work.
Some Fabry patients do not produce the `alpha-gal` enzyme at all, or the enzyme that is produced does not work at all. Galafold will not be of any use to such people. Because there is no enzyme in the body to stabilize it. Enzyme replacement therapy (ERT) is more suitable for them.
Therefore, before your doctor prescribes Galafold, he or she will perform a special genetic test to determine exactly what type of genetic mutation you have. This will determine whether this medication will be beneficial for you or not.
How do you use this medicine?
This part is very important because to get the full benefit of the medicine, you need to use it correctly.
- How to take: Galafold is a capsule. It is taken every other day , that is, every other day.
- Time of day: It is very important to take it at the same time every day. For example, if you took it at 8 am on the first day, you should take it at 8 am on the next day as well.
- Most importantly: This medicine should be taken on an empty stomach . That means you should not eat anything for 2 hours before or 2 hours after taking the medicine.
- Another important thing: Also, do not drink anything containing caffeine (like tea, coffee, some soft drinks) for 2 hours before and 2 hours after taking the pill. During this time, you can drink water, non-fiber fruit drinks, or non-caffeinated carbonated drinks.
To help you avoid getting your days mixed up, this medicine comes in a special package. It's called a `blister card.' It has a way of marking the days. You take off the blister card on the day you take the medicine, and on the day you don't take the medicine, you take off the empty circle in its place. This way, you can mark the card every day and not miss the day you need to take the medicine.
Are there side effects and problems with other medications?
Some people taking Galafold may have a slightly increased risk of respiratory infections (colds, sore throats) and urinary tract infections. The best way to prevent infections is to wash your hands often, stay away from sick people, and drink plenty of water.
The most important thing is, if you develop any bothersome, unusual symptoms that you think may be due to this medication, never stop taking it on your own . Be sure to talk to your doctor.
In addition, as we discussed earlier, caffeineTherefore, Galafold may be less effective. So be careful with things that contain caffeine. It is also very important to inform your doctor about any other medications, vitamins, or traditional medicine you are taking.
Take-Home Message
- Galafold is a special oral medication for certain types of Fabry Disease.
- This works by stabilizing an enzyme that is already in your body, but is unstable, and making it work. You need to do a genetic test to find out if this is right for you.
- The medicine should be taken every other day, on an empty stomach. Avoid eating and drinking caffeinated beverages 2 hours before and 2 hours after taking the medicine.
- This medicine may not improve your current symptoms, but it will help prevent future damage from the disease.
- If you have any side effects or problems, talk to your doctor immediately.
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