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Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa (DEB)
The Krystal Decode DEB™ program is designed to shorten time to accurate diagnosis and facilitate the delivery of optimal care PITTSBURGH and GAITHERSBURG,
About this update from Krystal Biotech, Inc.
[{"type":"text","content":"The Krystal Decode DEB™ program is designed to shorten time to accurate diagnosis and facilitate the delivery of optimal care\nPITTSBURGH and GAITHERSBURG, Md., Oct. 12, 2021 (GLOBE NEWSWIRE) -- Krystal Biotech, Inc., (“Krystal”) (NASDAQ: KRYS), the leader in redosable gene therapies for rare diseases, and GeneDx, Inc., a leader in genomic analysis and a wholly-owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced a collaboration offering no-charge genetic testing for all types of Epidermolysis Bullosa (EB). The goal of the program, called Krystal Decode DEB, is to help patients with the dystrophic form of this genetic condition, also known as DEB, get a definitive diagnosis sooner, with highly accurate results obtained with a blood or cheek swab sample. \"In the US, EB is too often diagnosed by clinical features alone without molecular confirmation. Since clinical features in different EB subtypes and other blistering disorders can show many similarities, a diagnosis based solely on clinical features can be inaccurate or delayed, which ultimately hurts the patients by preventing them from receiving proper care. The Krystal Decode DEB program will help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery,” said Dr. Peter Marinkovich, M.D., Blistering Disease Clinic Director and Associate Professor of Dermatology at Stanford University, and Primary Investigator for Krystal’s ongoing Phase 3 trial. EB is a rare genetic connective tissue disorder that causes extremely fragile skin that blisters and tears from minor friction or trauma. There are 4 types of EB, each caused by mutations in different genes. Accurately diagnosing dystrophic EB (caused by mutations in the COL7A1 gene) is critical due to the higher risk of squamous cell cancer, internal complications and mortality. “Epidermolysis Bullosa is a group of disorders with varied presentations, prognoses and long-term sequelae resulting from distinct gene mutations. However, many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment and unfamiliarity with the impact of genetic information on health care delivery,” said Dr. Jeanett Segal M.D., Uni...