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HemoShear Races Toward Discovery of Treatments for Children's Rare Diseases

Wednesday, January 06, 2016  
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HemoShear Therapeutics and Children's National Health System released study results that demonstrated successful restoration of propionic acidemia (PA), a rare metabolic disorder, using explanted liver tissue from a child with the disease. This study, published in the Journal of Molecular Genetics and Metabolism, demonstrated a novel method of recreating the disease in the laboratory for discovery of treatments for PA that may extend the lives of these children and possibly cure the disease.

This study resulted from a collaboration between HemoShear Therapeutics, Children's National, MedStar Georgetown University Hospital, and the child's parents, who want to encourage efforts to discover treatments for PA. PA is an inherited genetic disorder in basic cellular metabolism which, untreated, leads to the rapid buildup of life-threatening toxins in the body. Over time the disorder also leads to cardiovascular and neurological complications and eventual organ failure. PA has no approved drug therapy and is treated through strict diets and support medications that nearly always fail.

"HemoShear has the scientific expertise necessary to develop a biologically responsive model for interrogating this rare disease," said Brian Wamhoff, Ph.D., HemoShear Therapeutics' head of R&D. "If HemoShear is successful in discovering a treatment for PA, then the doors will inevitably open for us to discover treatments for other organic acidemias and rare diseases of the liver, as well as to address broader applications in precision medicine." 

Children born with PA often require liver transplants at an early age, and their livers are usually discarded. The research study became possible when a liver from an 8-year-old child with PA was transplanted. With the approval of the child's parents, Children's National and MedStar Georgetown University Hospital, the child's diseased liver tissue was sent to HemoShear. 

Using its REVEAL-Tx discovery platform and working closely with the team from Children's National, HemoShear recapitulated the child's disease in the laboratory. Data from the study showed restoration of the in vivo disease condition, a physiologically-relevant response to nutrients, and elevated levels of toxins consistent with what is observed in patients. HemoShear has subsequently initiated drug discovery programs to treat and potentially cure PA.

"To my knowledge, this is the first time anyone has been able to use liver tissue from a patient with propionic acidemia to recreate the biology of the disease in the laboratory," said Marshall Summar, M.D., Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National. "It is very difficult to gain meaningful response data about this disease from animal studies."

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