Tackling Rare Metabolic Diseases

HemoShear’s transformational models of complex diseases are accelerating the discovery of new treatments for several rare inborn errors of metabolism. There are currently no effective treatments for many of these tragic disorders, which can lead to significant developmental delays, frequent hospitalizations, and mortality.

Propionic Acidemia is a rare inborn error of metabolism characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown of the chemical "building blocks" of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone, poor feeding, vomiting, listlessness, dehydration, and episodes of seizures. Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait.  Read more at NORD >>

Methylmalonic acidemias are rare inborn errors of metabolism caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This defect results in an abnormally high level of acid in the blood and body tissues. In the acute form of the disease, drowsiness, coma, and seizures may occur. Mental retardation is a long-term consequence. Excretion of methylmalonate, a product of amino acid metabolism, in the urine is abnormally high and therefore is a marker of the disorder. Methylmalonic acidemias are inherited as autosomal recessive traits.  Read more at NORD >>

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by deficiency of certain enzymes required to break down the three branched-chain amino acids (BCAAs - Leucine, Isoleucine and Valine) in the body. The result of this metabolic failure is that all three BCAAs, along with their various byproducts, accumulate abnormally throughout the body. In the classic, severe form of MSUD, the plasma concentrations of the BCAAs begin to rise within a few hours of birth. If untreated, symptoms begin to emerge, often within the first 24-48 hours of life. The “non-specific” symptoms are those of increasing neurological dysfunction and include lethargy, irritability and poor feeding, followed soon by neurological signs such as abnormal movements and increasing spasticity, and shortly thereafter, by convulsions and deepening coma. If untreated, progressive brain damage is inevitable and death ensues usually within weeks or months. The finding that is unique to MSUD is the characteristic odor, reminiscent of maple syrup, that can be detected in the urine and earwax.  Read more at NORD >>

Urea cycle disorders (UCD) are rare inborn errors of metabolism resulting from genetic mutations causing defects in the metabolism of the extra nitrogen produced by the breakdown of protein and other nitrogen-containing molecules.  Severe deficiency or total absence of activity of any of the first four enzymes (CPSI, OTC, ASS, ASL) in the urea cycle or the cofactor producer (NAGS) results in the accumulation of ammonia and other precursor metabolites during the first few days of life.  Infants with a urea cycle disorder often appear normal initially but rapidly develop cerebral edema and related signs of lethargy; anorexia; hyperventilation or hypoventilation; hypothermia; seizures; neurologic posturing; and coma. Read more at NORD>>

The HemoShear Advantage

The biopharmaceutical industry’s drug development success is impeded by a lack of physiological models that reflect the complexity of disease. HemoShear’s proprietary REVEAL-Tx™ platform combines biological and computational models of human disease to accelerate discovery of novel targets and successful new drug treatments.

Advanced Disease ModelsAdvanced Disease Models Computational InsightComputational Insight Accelerated DiscoveryAccelerated Discovery
Advanced Disease Models

We have developed transformational physiological models of human diseases by applying principles of physiological blood flow to tissue from patients to recapitulate their disease. Our models enable valuable insights into complex disease pathways and drug responses in a more meaningful human-relevant context.

Computational Insight

We leverage powerful computational science to extract signaling pathways from our disease models and identify novel therapeutic targets for treating diseases. We then assess our computational target hypotheses in our biological disease models.

Accelerated Discovery

The REVEAL-Tx™ platform enables HemoShear and our partners to gain unprecedented insight into the underlying mechanisms of disease, rapidly translate those discoveries into drug candidates, and reduce risk of failure by reliably assessing which drug candidates will be safer and more effectively treat patients.

Disease Models

HemoShear’s platform has been used to recreate nearly 20 human diseases related to liver, vascular and tumor biology, including those driving our current pipeline in several rare metabolic disorders and partnerships with major biopharma.

Liver System Liver System

HemoShear has created a biologically responsive human liver system that has yielded a number of novel targets that modulate processes associated with children’s inborn errors of metabolism, and inflammation and fibrosis that can lead to nonalcoholic steatohepatitis (NASH), cirrhosis, and liver cancer. Through our partnership with Takeda, we have studied more than 20 NASH drugs in development across the industry to identify better targets and therapeutics.

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Tumor System Tumor System

HemoShear’s tumor models, currently in development, replicate the complex nature and behavior of a tumor, and can be used to interrogate the tumor microenvironment and make novel discoveries in how cancer cells survive, grow, and become resistant to therapy. In addition, a patient’s tumor tissue could be used to create an ‘avatar’ of the tumor in the HemoShear system to assess the effectiveness of different drugs against the patient’s tumor – an important step towards personalized cancer treatment. We look forward to forging partnerships with companies who want to apply our platform to accelerate successful cancer drug discovery and ultimately develop more effective treatments for patients.

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Vascular System Vascular System

Using human tissue and regional hemodynamics, HemoShear has developed and validated numerous models that mimic the biology and physiology of the blood vessel wall throughout the human vascular system. We have collaborated with a number of partners to uncover mechanisms of action and differentiate drug compounds.

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Contact

info@hemoshear.com

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Charlottesville, Virginia 22902