Tell us about HemoShear – What progress have you made in inherited metabolic disorders?

HemoShear was created around a powerful technology that accelerates discovery of novel treatments for complex diseases. To address the urgent need to improve the lives of children born with metabolic disorders, we partnered several years ago with the Children’s National Rare Disease Institute (CN-RDI), located in Washington, D.C., in an ambitious effort to create relevant biological models of methylmalonic acidemia (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD) in our laboratory.
Working with CN-RDI, several patients donated their diseased liver tissue to us after receiving transplantation, in order to help our team study MMA and PA.  The patient cells helped us gain a deeper understanding of these diseases than what is possible with traditional animal research. Our technology enabled our team to uncover the biological processes of MMA and PA and assess different ways of potentially treating the root causes of these diseases.  
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Based upon our discoveries, we are planning to advance a new drug treatment that has the potential to improve the lives of MMA and PA patients.  In fact, our hallways are lined with photos of patients – they are the inspiration that motivates our scientists during long days and challenging obstacles to finding a treatment.  You and your children are our source of energy and the reason we do what we do.

Have you been able to discover a drug that might treat MMA and PA?

Yes – we are excited to share that we have developed a promising potential oral drug treatment for MMA and PA called HST5040. Our laboratory and animal research has shown that HST5040 may reduce the toxins that cause harm in PA and MMA patients.
As an oral drug, HST5040 would be convenient for patients and families to administer at home as a tablet, in a liquid form or through a gastric feeding tube. We believe that the dosage could also be adjusted over time if required. MMA and PA are complex diseases that manifest in every organ of the body.  Because HST5040 is a ‘small molecule,’ it has the potential to enter tissues and thus be active throughout the entire body. We also believe that patients who have had a liver and/or kidney transplant may also be able to take this drug to further complete their journey toward a healthier life.

What have you learned from families and patients?

While HemoShear scientists have dedicated significant time in the lab to understanding PA and MMA, it has been important to us to combine this knowledge with the day-to-day experience of patients.

We have spent time with the community of families affected by metabolic disorders to better understand what would be truly meaningful improvements in your children’s quality of life.

We held a day-long session with parents last year where we learned about the challenges and tribulations associated with diagnosis, evolving regimens for disease management, triggers that lead to metabolic crises, impact on child development, managing family dynamics, and much more.
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A talented graphic recorder captured insights at the meeting in several illustrations that we display in our offices as another powerful daily inspiration to us.

We will continue to listen and collaborate with families to ensure that we are doing our best to understand and help meet your medical needs. We look forward to spending additional time with you to learn more about the disease experience.

What do you want families and patients to know?

It is an exciting time for the MMA and PA communities as potential new therapies advance into clinical trials. 
Clinical trials assess drugs in patients who volunteer to be participants at medical research institutions. The clinical development process can take several years as studies with experimental drugs must demonstrate substantial evidence of safety and efficacy before being considered for approval by the Food and Drug Administration (FDA) and other regulators for treating patients. You can find out more about the drug development process and clinical trials at this FDA website.

Making much-needed medical progress to improve the quality of life for MMA and PA patients is going to be a collaborative process between the research community and families. It is our goal to ensure that patients, their families and their medical professionals understand the progress we have made and the approach we are taking to advance a potential new treatment.  Please consider volunteering for our clinical trials when we are ready to begin this very important phase of development.

We invite the OAA community to be our partners and help us navigate the best pathway to advancing potential new treatments.  Our doors are always open to have families visit and share experiences and help us shape our science to best serve your needs. 

What’s Happening Next?

We are currently completing research required by the FDA to begin our first clinical trial with HST5040.  Our first study will be in a small number of MMA and PA patients to conduct a preliminary assessment of the effects of HST5040 on the toxins that cause harm in patients affected with these diseases to guide future clinical trials.  It is our goal to be in clinical trials in 2020.
We will be in touch with the community through OAA as we make progress and we look forward to attending the family workshop this spring and hearing your thoughts on our plans.
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Please visit our website and continue to check back on our progress at HemoShear.