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Fortress Biotech Announces Publication of Study on Estimated Birth Prevalence of Menkes Disease in Molecular Genetics and Metabolism Reports
Cyprium Therapeutics, a Fortress partner company, is developing CUTX-101 for Menkes disease and is on track to begin submitting a rolling New Drug Application
About this update from Fortress Biotech, Inc.
[{"type":"text","content":"Cyprium Therapeutics, a Fortress partner company, is developing CUTX-101 for Menkes disease and is on track to begin submitting a rolling New Drug Application to the FDA in the fourth quarter of 2020\nNEW YORK, June 11, 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, “Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD),” in Molecular Genetics and Metabolism Reports. The study was published online in June 2020 and will be published in the print edition of the journal in September 2020.\n The study evaluated the prevalence of Menkes disease, an often lethal, if untreated, X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase. Previous estimates of Menkes disease were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. 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, the authors reviewed the canonical ATP7A transcript in the current version of gnomAD (v2.1.1) to evaluate frequencies of loss-of-function and pathogenic missense variants in a diverse normal control population. Assuming Hardy-Weinberg genetic equilibrium, the allelic frequency of loss-of-function variants suggests a minimum birth prevalence for Menkes disease of 1 in 34,810 males, higher than previously recognized. If likely pathogenic missense variants are included, the estimated birth prevalence could potentially be as high as 1 in 8,664 live male births. “Based on these findings, it appears that Menkes disease is under-reported in the population. This may reflect disparities in access to health care or tertiary care genetics clinics, challenges in distinguishing the Menkes phenotype from other conditions, and deaths of affected subjects before diagnosis,” said Dr. Kaler, also a professor of Pediatrics and Genetics at The Ohio State University College of Medicine. “Our lat...