On August 2, 2021, biotechnology company Amicus Therapeutics (“Amicus”) shared that its oral treatment Galafold (migalastat) was approved by the European Commission (EC) for the treatment of adolescent patients (ages 12-16) with Fabry disease who also have an amenable mutation. Altogether, this marks the first orally-administered treatment available in Europe for this patient population. Previously, Galafold was approved for the treatment of adults with Fabry disease who have an amenable mutation.

Galafold

So what is Galafold? According to Fabry Disease News, Galafold is a type of chaperone therapy:

designed to restore alpha-gal A activity in patients with certain types of mutations. Galafold attaches to certain unstable and dysfunctional forms of alpha-gal A, stabilizing the enzyme and partially restoring its activity, [which] allows the enzyme to go…in the cell where it can break down Gb3, reducing the toxic effects caused by its accumulation.

You see, in patients with Fabry disease, GLA mutations lead to alpha-galactosidase A (alpha-gal A) enzyme becoming non- or partially functional. As fatty Gb3 builds up inside of cells, it causes organ damage. Thus, Galafold works to reduce Gb3 accumulation and improve patient outcomes.

Galafold approval hinged on safety and pharmacokinetics data from the AT1001-020 trial, which showed promising benefits for adolescents with Fabry disease. Altogether, the treatment is given in 123mg pills. Amicus believes that an estimated 35-50% of adolescents with Fabry disease have a GLA gene mutation amenable to treatment. If this is true, this would provide a new, safe, and effective option for patients. Although the treatment is relatively safe and well-tolerated, some patients may experience side effects. These include:

• Fever
• Nausea
• Common cold
• Headache
• Urinary tract infections

Fabry Disease

As described above, GLA gene mutations cause Fabry disease, a genetic lysosomal storage disorder. As globotriaosylceramide (Gb3) accumulates in the cells, it causes a host of health issues, as the body is unable to process it. Because GLA is located on the X chromosome, males with Fabry disease are often more affected than their female counterparts. However, this is not to say females with Fabry disease experience no symptoms; many still have pain, gastrointestinal distress, or cerebrovascular events. More information is needed to better understand all patients with Fabry disease.

Gb3 accumulation typically begins in childhood. As symptoms worsen, patients’ hearts and kidneys are often affected. Symptoms include:

• Hearing loss
• Tinnitus (ringing in the ears)
• Hypohidrosis (inability or loss of ability to sweat)
• Dizziness
• Heat or cold intolerance
• Frequent bowel movements
• Joint pain and inflammation
• Recurring pain in the hands and feet (acroparesthesias)
• Dark red spots on the skin (angiokeratomas)
• Dull, cloudy vision in the outer side of the eye
• Abdominal pain and cramping

Although there is no cure for Fabry disease, some treatments do exist. Without intervention, some patients may experience life-threatening symptoms, such as:

• Kidney and organ damage
• Stroke
• Renal insufficiency
• Heart attack

Learn more about Fabry disease.