Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa (DEB)
"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.
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.
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.
The Krystal Decode DEB program is open to all US residents, including residents of
About Dystrophic EB
DEB is a rare and severe monogenic disease that affects the skin and mucosal tissues. It is caused by one or more mutations in a gene called COL7A1, which is responsible for the formation of the protein type VII collagen protein (COL7) that forms anchoring fibrils that bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). The lack of functional anchoring fibrils leads to extremely fragile skin that blisters and tears from minor friction or trauma. DEB patients suffer from open wounds, which leads to skin infections, fibrosis which can cause fusion of fingers and toes, and ultimately a significantly increased risk of developing squamous cell carcinoma of the skin, which is often fatal.
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This press release contains forward-looking statements, including with respect to the Krystal Decode DEB program, such as its ability to 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. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors as are set forth under the caption “Risk Factors” in Krystal’s annual and quarterly reports on file with the
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Source: Krystal Biotech, Inc.