Rare Disease Report

Maple Syrup Urine Disease Models to be Presented in San Diego

MARCH 08, 2018
Mathew Shanley
At the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting in San Diego next month, HemoShear Therapeutics will unveil the first human tissue-based model of Maple Syrup Urine Disease (MSUD).

MSUD is a rare genetic disorder caused by the deficiency of specific enzymes essential to metabolize proteins, leading to the speedy accumulation of life-threatening toxins in the body. To permit scientists to comprehend the complex disease process, classify and confirm encouraging treatment approaches, and study the effects of drug candidates, the company has recreated the human pathophysiology of the disease.

HemoShear’s transformative disease models are expediting the unearthing of novel treatments for 3 rare inborn errors of metabolism, including propionic academia, methylmalonic academia and MSUD. Alongside the Children’s National Rare Disease Institute (CN-RDI), the company will present 4 research programs featuring its work in these diseases, including computational rare disease modeling.

The CN-RDI was opened in January 2017, and focuses on advancing the care and treatment of children with rare genetic diseases.

The MSUD model was made using HemoShear’s REVEAL-Tx platform, which employs principles of physiological blood flow to tissue from the livers of patients who received a transplant to replace the diseased organ. The technology has been used to recreate almost 20 human disease states pertaining to liver, vascular and tumor biology.

"HemoShear has significantly advanced our understanding and treatment of certain rare inborn errors of metabolism," said Dr. Marshall Summar, director of the CN-RDI in a press release. "These diseases strike right at basic human metabolic function, leading to a cascade of complications from birth through the entire lifespan. If HemoShear can uncover the fundamental functioning of metabolism, not only will we be revising medical textbooks, but we will be far down the path toward developing targeted treatments."

HemoShear is in the preclinical stages of developing therapies for propionic academia and methylmalonic academia using the REVEAL-Tx platform. In order to address the unmet needs, and develop successful treatments for rare pediatric diseases like MSUD, Brian Wamhoff, PhD, Head of Innovation at HemoShear knows that studies need to be done in humans, and be advanced beyond “animal models and static cells in a petri dish.”

"Our innovative REVEAL-Tx platform combines the power of dynamic human biology and computational science to generate deep understanding of complex diseases,” Wamhoff said. “We believe insights generated through our platform will help lead to new therapies that will transform the lives of these children."

Per the National Institute of Health (NIH), MSUD affects approximately 1 in 185,000 infants worldwide. This devastating disease causes lethargy, irritability and poor feeding, and results in developmental delays and brain damage. The condition is associated with a maple syrup odor in urine, sweat and earwax. Some symptoms can be controlled by strict dietary restrictions, however, there are currently no effective approved treatments for MSUD.

The SIMD Annual Meeting is being held at Paradise Point Resort & Spa in San Diego, CA from March 11-14.

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