Benzinga | Oct 12, 2021 08:09AM EDT

Krystal Biotech and GeneDx Announce Collaboration To Provide No-Charge Genetic Testing For Patients With Suspected Dystrophic Epidermolysis Bullosa

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., United States Medical Director of Krystal Biotech, Inc. "Fortunately, genetic tests are available and we are thrilled to work with GeneDx to offer this at no-charge to patients with EB symptoms."

The Krystal Decode DEB program utilizes a comprehensive panel of genes to identify DEB or other genetic conditions with similar phenotype to DEB, including other EB types and some other non EB skin blistering conditions, to aid in diagnosis.

"Diagnosis of rare diseases like DEB can take years. Access to genetic testing as early as possible is essential to ensure people suspected of having DEB receive an accurate diagnosis and optimal treatment as soon as possible," said Dr. Paul Kruszka, M.D., F.A.C.M.G., Chief Medical Officer of GeneDx. "We're pleased to be working with Krystal Biotech to make it easier for patients suspected of having DEB to receive genetic testing."

The Krystal Decode DEB program is open to all US residents, including residents of Puerto Rico, who have clinical symptoms consistent with EB and have not previously received genetic testing. More information on the Decode DEB program can be obtained by emailing krystal@genedx.com or calling 1-888-729-1206. Krystal reserves the right to amend, suspend or terminate this program without notice.