On May 10, 2023, reports EMPR, the U.S. FDA approved Elfabrio (pegunigalsidase alfa-iwxj) for adults who are living with Fabry disease. Developed by Protalix Biotherapeutics in conjunction with Chiesi Global Rare Diseases, this PEGylatd enzyme replacement therapy is described by Protalix as:
a plant cell culture-expressed, and a chemically modified version of, the recombinant alpha-Galactosidase-A protein. In clinical research, pegunigalsidase alfa appears to have a favorable circulatory half-life, with targeted enzyme activity in organs affected by Fabry disease.
Elfabrio’s approval hinged on the results of two clinical studies. The first study evaluated Elfabrio in patients who had never before been treated by enzyme replacement therapy, or who have only been treated for a short amount of time.
The second study, in which 77 individuals enrolled, used patients who have been treated more significantly with enzyme replacement therapy. Within this study, 52 adults received intravenously administered Elfabrio, with the remaining patients receiving agalsidase beta, which is commonly used in Fabry disease management. The researchers found that Elfabrio was noninferior, which means that it is not worse than agalsidase beta. Common Elfabrio side effects included back and extremity pain, nausea, fatigue, diarrhea, sinusitis, the common cold, and infusion-site reactions. Learn more about Elfabrio.
Understanding Fabry Disease
Fabry disease is a rare inherited lysosomal storage disorder that is caused by missing or deficient α-Gal A, an enzyme. GLA gene mutations don’t allow the body to produce enough of this enzyme, which breaks down globotriaosylceramide. So this substance builds up in cells and causes health problems. In the past, the medical field understood Fabry disease to be a solely or mostly male-affecting disease. However, more research has shown that women can also have Fabry disease and deal with symptoms such as cerebrovascular issues and pain. Fabry disease symptoms may include:
- Acroparesthesias (recurring burning or pain in the hands and feet)
- Tinnitus (ringing in the ears)
- Angiokeratomas (small bundles of red spots on the skin)
- Swelling in the hands, legs, or feet
- Intolerance to extreme heat or cold
- Diarrhea or constipation
- Reduced ability to sweat
- Hearing loss
- Abdominal pain
- Cloudiness in the front of the eye
Right now, there are no cures for Fabry disease. Treatment may include oral chaperone therapy or enzyme replacement therapy. Researchers are also exploring novel options in clinical studies.