Saol Therapeutics and GeneDx, Inc. Collaborate to Detect Patients with Rare Mitochondrial Disease
Saol Therapeutics has announced a collaboration with GeneDx to identify patients with Pyruvate Dehydrogenase Complex Deficiency (PDCD), a rare mitochondrial disease affecting fewer than 300 children annually in the U.S. The partnership aims to increase recruitment for a Phase 3 clinical trial testing dichloroacetate (DCA), which has Orphan Product designation from the FDA for congenital lactic acidosis. The trial is crucial as PDCD currently lacks FDA-approved treatments. Dr. Peter Stacpoole emphasizes the importance of the collaboration for effective patient recruitment.
- Collaboration with GeneDx may accelerate patient recruitment for the Phase 3 trial.
- DCA has Orphan Product designation from the FDA, indicating support for development.
- PDCD currently lacks any FDA-approved treatments, highlighting market need and risk.
- Recruitment for clinical trials can be challenging, indicating potential delays.
ROSWELL, 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.
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.
GeneDx'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.
Dr. 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."
Dave 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 mitochondrial diseases early. Without this technology, recruitment for a disease like PDCD could take many years to complete."
About Saol Therapeutics
Saol Therapeutics (pronounced "Sail") is a privately held, biopharmaceutical company with operations in Roswell, GA, Dublin, Ireland and Hamilton, Bermuda. Saol is focused on clinical development activity in rare diseases, with a focus on mitochondrial disorders, as well as central nervous system disorders such as spasticity and pain management. Saol is one of the collaborators on a Phase 3 trial studying the first potential treatment for pyruvate dehydrogenase complex deficiency (PDCD). More information on the clinical trial can be found at Phase 3 PDCD Trial. More information about Saol can be found at https://saolrx.com/.
About GeneDx
GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families from more than 55 countries. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit https://www.genedx.com/.
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SOURCE Saol Therapeutics
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