Galafold® (migalastat) & Fabry Disease

Alex, an actual Galafold patient.

How you experience Fabry disease is unique to you.

What is Fabry disease?

Fabry is a rare disease caused by changes in the GLA gene, which may be referred to as mutations or variants.

People with Fabry disease have trouble breaking down and getting rid of certain fatty waste substances (substrates) in cells. This happens because of a variant in the GLA gene that leads to a defective or absent enzyme called alpha-Gal A. When alpha-Gal A is present and functioning, it travels to the cell’s recycling center, called the lysosome, to break down the fatty substances in the cell.

In Fabry disease, without fully functioning alpha-Gal A, the fatty substances build up in the body, causing damage to tissues and organs.

Fabry disease can affect many parts of the body, including the kidneys, heart, nervous system, skin, eyes, and others. For this reason, many different healthcare providers may be involved in treating and monitoring people with Fabry disease.

Because Fabry disease has a wide range of symptoms, every person's experience with Fabry may be unique. It can cause many types of health issues that may get worse at different rates in different people and may ultimately affect lifespan.

“I began waking up every morning feeling terrible. My feet burned almost immediately so I knew I was in for an awful day.”

- Alex, on his Fabry symptoms

Find more information and resources on Fabry disease and the various symptoms those with Fabry may experience.

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Fabry disease and inheritance

Each of us has information (called DNA) coded in our cells. We inherit this DNA from our parents. Fabry disease can be passed down by either parent. This is because the GLA variant is found on the X chromosome.

A father with Fabry disease passes along his mutation to all of his daughters. This is because daughters get their father’s only X chromosome with the mutated GLA variant. A father with Fabry disease never passes the GLA variant to his sons, because sons get a Y chromosome from their fathers.

A mother who has the GLA variant on one of her 2 X chromosomes has a 50% chance of passing down Fabry disease to each of her children (male or female). Since men only have 1 X chromosome, if they inherit the variant, they will all develop Fabry disease. In affected females, the GLA gene may work normally in some parts of the body but not others. This is believed to be one reason why females have more variable symptoms than males.

In rare cases, Fabry may not be inherited. Mutations may spontaneously occur and be unique to the individual. These are known as de novo mutations. However, these individuals may still be able to pass the disease onto their children.

“In the early stages of being diagnosed with the disease, doctors acted like I didn’t have any symptoms because I was a woman. Talk about frustrating! Contrary to popular belief, women and girls can have severe Fabry symptoms. I am one of them.”

- Rebecca, on living with Fabry

The role of genetic GLA variants in Fabry disease

Fabry disease is not caused by one single genetic variant. In fact, there are numerous GLA variants that can cause the disease. GLA variants are written as letters and numbers such as c.155G>A, p.C52Y, which refers to the location of the variant on the GLA gene in a patient. These different GLA variants can cause different types of problems in people with Fabry disease.

Testing for Fabry disease

A diagnosis may be confirmed through laboratory testing.
There are two types of tests:

  1. A blood test to determine alpha-Gal A enzyme activity. This test may be used for diagnosis in males, but not females.
  2. A genetic saliva or blood test to determine the exact GLA variant. This test is required for diagnosis in females and confirms diagnosis in males. It may also help determine what treatment options are appropriate for you.

Talk to your healthcare provider to learn more.

INDICATION AND IMPORTANT SAFETY INFORMATION

Before taking Galafold® (migalastat), tell your healthcare provider about all of your medical conditions, including if you:

  • have kidney problems.
  • are pregnant or plan to become pregnant. It is not known if Galafold will harm your unborn baby.
  • have kidney problems.
  • are pregnant or plan to become pregnant. It is not known if Galafold will harm your unborn baby.
  • are breastfeeding or plan to breastfeed. Galafold may pass into breast milk. Talk to your healthcare provider
    about the best way to feed your baby if you take Galafold.

Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

What are the possible side effects of Galafold?

The most common side effects of Galafold include headache, stuffy or runny nose and sore throat, urinary tract infection, nausea, and fever.

These are not all the possible side effects of Galafold. Call your healthcare provider for medical advice about side effects.

What is Galafold?

Galafold is a prescription medicine used to treat adults with Fabry disease who have a certain genetic change (variant) in the galactosidase alpha gene (GLA) that is responsive (amenable) to Galafold.

It is not known if Galafold is safe and effective in children.

You may report side effects to FDA at 1-800-FDA-1088. You may also report side effects to Amicus Therapeutics at 1-877-4AMICUS.

Please click here for Full Prescribing Information, including Patient Information and Instructions for Use.