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Rare should never mean alone.

At Enzyvant we are focused on developing therapies for people with rare diseases—like Farber disease and congenital athymia associated with complete DiGeorge Anomaly (cDGA). We understand the road to diagnosis can be a twisty one. That’s why this Rare Disease Day, we’re shining a light on genetic testing, which can often provide those living with rare disease definitive answers to the question, “What’s happening?”

Enzyvant

The importance of genetic testing

Genetic testing may be able to help families grappling with rare disease confirm a diagnosis, identify the underlying mutation responsible for the condition, and help with disease management. Enzyvant’s own no-cost genetic testing program for anyone who suspects Farber disease is intended to do just that. Ready to learn more? Sign up to receive information about this program, as well as other important Enzyvant news.

Stay in the Know

Mitchell, diagnosed with congenital athymia

February 28

Rare Disease Day 2019: On Rare Disease Day—and every day—you’ll find genetic testing information and other important resources at EURORDIS, the EveryLife Foundation, Global Genes and the National Organization for Rare Disorders (NORD).

Answers through genetic testing

Genetic testing helped Michele Rhee learn more about her own rare disease. As Enzyvant’s Head of Patient Affairs, Michele’s diagnostic journey also gave her important insight into the lives of the families she serves every day.

Watch Michele's video

Answers through genetic testing

Genetic testing helped Michele Rhee learn more about her own rare disease. As Enzyvant’s Head of Patient Affairs, Michele’s diagnostic journey also gave her important insight into the lives of the families she serves every day.

Watch Michele's video

Enzyvant: Committed to solutions for rare diseases.

Currently, our focus is on developing therapies for people with congenital athymia associated with complete DiGeorge Anomaly (cDGA) and Farber disease.

Congenital Athymia associated with Complete DiGeorge Anomaly

In partnership with Duke University and Dr. Louise Markert, we are developing a thymic–tissue based regenerative therapy for people with congenital athymia. Learn more

Sydney, diagnosed with congenital athymia associated with complete DiGeorge anomaly (cDGA)

Farber Disease

We are conducting a natural history study of people with Farber disease to help in our development of an investigational therapy for this rare condition. Currently, there is no treatment for Farber disease. Learn more

Emy, diagnosed with Farber disease

Now go out there and don’t be afraid to show your rare.
We certainly did!  Get your rare on at www.rarediseaseday.org