- Re:GenerationHope raises awareness and funds for the complete DiGeorge Anomaly and primary immunodeficiency communities
- The congenital athymia associated with complete DiGeorge Anomaly results in severe primary immunodeficiency and is almost uniformly fatal if untreated
BASEL, Switzerland, Feb. 28, 2018 /PRNewswire/ -- Enzyvant, a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases, today supported Rare Disease Day through an event and fundraising initiative. Rare Disease Day, observed annually on the last day in February, is an international awareness campaign developed by the European Organisation for Rare Diseases in 2008.
This year Enzyvant will host an event in Durham, North Carolina, focused on complete DiGeorge Anomaly (cDGA). Sydney Casanova, a 12-year-old girl born with cDGA, and Melyza Casanova, Sydney’s mother, will reunite with Dr. M. Louise Markert, Professor of Pediatrics at Duke University, who treated Sydney with an investigational thymic tissue-based regenerative therapy as an infant. Sydney and her mother are both Enzyvant patient advisors and Dr. Markert is an Enzyvant investigator; Enzyvant partnered with Dr. Markert and Duke University in 2016.
“Sydney and I are excited to have the opportunity to share our story because we want as many people as possible to know about this disease,” said Melyza Casanova. “We want to help all of the other complete DiGeorge families, and the more awareness, the better.”
In conjunction with this event, Enzyvant is launching Re:GenerationHope, an initiative to raise awareness and funds for patient advocacy groups that support the complete DiGeorge Anomaly community. With every share of #ReGenerationHope on Twitter or Facebook on Rare Disease Day, Enzyvant will donate to two primary immunodeficiency patient advocacy groups: the Jeffrey Modell Foundation and the Immune Deficiency Foundation.
“We are thrilled to be part of this initiative to honor those who have and continue to participate in complete DiGeorge Anomaly research,” said Vicki Modell, Co-Founder of the Jeffrey Modell Foundation. “This is a great program, and we are delighted to be a part of it with Enzyvant.”
“We are proud to work with Enzyvant to help raise awareness of complete DiGeorge Anomaly and all primary immunodeficiencies,” said John Boyle, President & CEO of the Immune Deficiency Foundation. “Through advocacy, education and research, together we can improve the diagnosis, treatment and quality of life for people with these serious, rare diseases.”
For more information, please visit www.enzyvant.com/regenerationhope.
About Complete DiGeorge Anomaly
Complete DiGeorge Anomaly (cDGA) is a rare disease affecting approximately 1 in 300,000 infants, or roughly 10-20 infants born each year in the U.S. Children with cDGA are born without a thymus gland, resulting in severe immunodeficiency due to the inability to produce normally functioning T cells, which defend against infection and regulate essential processes in the immune system. cDGA is uniformly fatal if untreated, with death typically occurring in the first 24 months of life due to susceptibility to infection.
RVT-802 is an investigational one-time thymic tissue-based regenerative therapy designed to reconstitute the immune system for the treatment of primary immune deficiency resulting from congenital athymia associated with complete DiGeorge Anomaly (cDGA), or forkhead box protein N1 (FOXN1) deficiency. RVT-802 has been granted Orphan Drug designation, Breakthrough Therapy designation, Regenerative Medicine Advanced Therapy designation, and Pediatric Rare Disease designation by the U.S. Food and Drug Administration. Enzyvant anticipates a potential BLA filing in 2018. RVT-802 is investigational and not approved for commercial use by the FDA or other health regulators at this time.
Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant is advancing the development of RVT-802, an investigational thymic tissue-based regenerative therapy for the potential treatment of primary immune deficiency associated with complete DiGeorge Anomaly.
Enzyvant is also conducting a natural history study of patients with Farber disease to better define the natural course of disease and the relationship between specific symptoms, biomarkers, and prognosis. Enzyvant is preparing a clinical trial for RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease.
Enzyvant plans to develop treatments for additional rare diseases with high unmet need. For more information, please visit www.enzyvant.com.