About Fabry Disease
Fabry disease is a rare genetic disorder caused by a defective GLA gene, which usually causes a deficiency of enzyme alpha-galactosidase A.
Fabry disease affects between 1 and 5 in 10,000 people worldwide. Its symptoms usually appear in childhood.
Fabry disease is inherited by an X-linked pattern. Men are known to have more severe symptoms than women.
Enzyme Replacement Therapy (ERT)
- Agalsidase beta (Fabrazyme® - FDA approved) produced by Sanofi-Genzyme
- Agalsidase alfa (Replagal®) produced by Shire
Oral Chaperone Therapy (OCT)
- Migalastat (GalafoldTM - FDA approved) produced by Amicus Therapeutics
Other methods include:
- A plant-based ERT (Protalix)
- Substrate reduction therapies (SRT) offered by Sanofi-Genzyme and Idorsia
- Gene therapy solutions offered by Avrobio and Sangamo
Living with Fabry Disease
Care for Yourself
- Stress from continued symptoms and medical treatments can both wear down your mind and body
- Talking to someone can help you a lot; consider speaking with a doctor to acquire a referral for a counselor or therapist
- Drinking lots of fluids to stay hydrated will help maintain your body temperature
- By maintaining body temperature, possibility of pain episodes are reduced