Business
Saol Therapeutics and GeneDx, Inc. Collaborate to Detect Patients with Rare Mitochondrial Disease
Program Supports Access to A Pivotal Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency (DCA/PDCD trial; NCT02616484) ROSWELL, Ga.,
About this update from Opko Health, Inc.
[{"type":"text","content":"Program Supports Access to A Pivotal Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency (DCA/PDCD trial; NCT02616484)\n\n\nROSWELL, Ga., March 1, 2022 /PRNewswire/ -- Saol Therapeutics, a company researching new treatments for rare diseases, is pleased to announce a collaboration with GeneDx, Inc. a leader in genomic analysis, a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), to assist in identifying patients diagnosed with a rare mitochondrial disease, Pyruvate Dehydrogenase Complex Deficiency (PDCD) who may be eligible to participate in a Phase 3 clinical trial. PDCD affects less than 300 children in the United States annually and lacks any FDA-approved treatment.\nGeneDx, in collaboration with Saol, will help make clinicians who treat PDCD aware of this pivotal trial.This pivotal phase 3 trial administers the investigational drug dichloroacetate (DCA) to young children who have a deficiency of the pyruvate dehydrogenase complex (PDC). PDC deficiency is the most common cause of congenital lactic acidosis and is frequently a fatal metabolic disease of childhood. DCA has Orphan Product designation from the FDA for congenital lactic acidosis (CLA), including patients with PDCD.\nGeneDx's advanced genetic testing provides diagnostic information on disease-causing genetic changes thanks to expert gene variant interpretation built on the combination of an unparalleled dataset and deep clinical knowledge. Through the program, GeneDx, in collaboration with Saol, will help make clinicians who treat PDCD aware of this pivotal trial in an effort to possibly accelerate patient recruitment among this highly targeted patient population.\nDr. Peter Stacpoole, Principal Investigator of the DCA/PDCD trial and Prof. of Medicine at the University of Florida, notes, \"There are currently no FDA-approved treatments for patients with PDCD. Despite this, finding and recruiting children appropriate for participation in clinical trials is not easy. With the help of GeneDx, we hope to complete trial recruitment this year.\" \nDave Penake, CEO of Saol Therapeutics, is excited about the collaboration with GeneDx. \"Individualized genetic screening offers physicians and families the insights needed to avoid years of misdiagnosis. With their help, we are better able to identify mit...