Fortress Biotech Announces Publication of Study on Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics and Metabolism Reports
Cyprium Therapeutics, a Fortress partner company, is developing CUTX-101 for Menkes disease
A rolling submission of a New Drug Application to the FDA is expected to begin in the fourth quarter of 2020
NEW YORK, July 29, 2020 (GLOBE NEWSWIRE) -- Fortress Biotech, Inc. (Nasdaq: FBIO) (“Fortress”), an innovative biopharmaceutical company focused on acquiring, developing and commercializing high-potential marketed pharmaceutical products and development-stage pharmaceutical product candidates, today announced the publication of a study, “Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease” in Molecular Genetics and Metabolism Reports. The study was published online in July 2020.
The study assessed the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for Menkes disease, a X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase. Left undetected and untreated, Menkes disease is often fatal by three years of age. Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms.
In the study, supported in part by The Menkes Foundation (https://themenkesfoundation.org/) and led by Stephen G. Kaler, M.D., M.P.H., a physician-scientist in the Center for Gene Therapy in the Abigail Wexner Research Institute at Nationwide Children's Hospital, researchers blindly analyzed dried blood spots from control or Menkes disease subjects (n=22) for pathogenic variants in the copper transporter gene, ATP7A. The analytical method was optimized to minimize cost and provide rapid turnaround time. The algorithm correctly identified pathogenic ATP7A variants, including missense, nonsense, small insertions/deletions, and large copy number variants, in 21/22 (95.5%) of subjects, one of whom had inconclusive diagnostic sequencing previously. For one false negative that also had not been detected by commercial molecular laboratories, researchers identified a deep intronic variant that impaired ATP7A mRNA splicing.
“The results of our study support proof-of-concept that primary DNA-based NBS would accurately detect Menkes disease, a disorder for which biochemical detection in the newborn period is currently unavailable. Targeted next generation sequencing for NBS would enable improved Menkes disease clinical outcomes through early detection, and eliminate the lengthy, expensive, and uncomfortable diagnostic odysseys endured by many affected infants and their parents,” said Dr. Kaler, who is also a professor of Pediatrics and Genetics at The Ohio State University College of Medicine.
Lung S. Yam, M.D., Ph.D., President and Chief Executive Officer of Cyprium, added, “This study suggests that Menkes disease could be accurately detected by a quick NBS method that is also cost effective. NBS could potentially increase the number of Menkes disease patients identified at birth allowing for earlier treatment, a critical component correlated with clinical outcome.”
The study can be accessed here.
About Menkes Disease and Related Copper Metabolism Disorders
About CUTX-101 (Copper Histidinate)
About Cyprium Therapeutics
About Fortress Biotech
Lung Yam, M.D., Ph.D.
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