Exploring New Pathways for Children Living with Propionic Acidemia and Methylmalonic Acidemia

HemoShear is committed to bringing first-of-its-kind treatment to children living with propionic acidemia (PA) and methylmalonic acidemia (MMA), two rare and life-threatening inherited diseases.  PA and MMA are rare inborn errors of metabolism that occur in only about 2,000 people in the United States.

People with PA and MMA develop a build-up of toxic materials (acids) inside their cells and in their blood and urine. The accumulation of these toxic substances can cause the cells in all major organs not to function properly.

Infants and young children with these diseases often have feeding problems, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). More serious medical issues can develop.

Although these diseases are usually diagnosed soon after birth, there is currently no treatment for them. Instead, infants and children are treated by managing the symptoms and by following a very restrictive diet.

 

Our Treatment Approach

Reaching Cells and Reducing Toxicity

To best treat these disorders, a medication is needed that can reach cells throughout the body to safely lower the levels of the toxic materials found in children with PA and MMA.

HemoShear is working to discover an oral medication that works by entering the bloodstream, reaching all of the major organs and reducing the build-up of toxic substances throughout the body. HemoShear began its drug discovery program in 2016 and it is progressing rapidly.

 

Participate in PA and MMA Research

It’s Confidential and Could Help Make a Difference

PA and MMA are part of a larger group of rare diseases called organic acidemias. Because these diseases are all rare, they are not as well-understood as other more common disorders.

The Organic Acidemia Association recently launched a natural history study to improve the understanding of these diseases.  

If you have a child with an organic acidemia such as PA or MMA, your participation in the natural history study could help make a difference. It’s all about developing a better understanding of these genetic disorders by learning from your child’s medical condition and experience. No treatment is involved in this study, and management of your child’s condition is completely up to you and your doctor.

All of the information collected from parents and caregivers is kept completely anonymous and you and your child’s identity are protected. Finding out more is easy, just visit the OAA Patient Registry website and/or talk with your doctor.

The European Union is sponsoring a similar study for patients with organic acidemias and urea cycle defects. Information can be found at the E-IMD Patient Registry website.

 

Here to Help

Resources for Patients and Caregivers

As we make progress, we look forward to continuing to support this community. If you would like to learn more about our unique technology and research program, please contact Patients@hemoshear.com.

A growing number of online resources and organizations are available to people with rare diseases such as PA and MMA, and those who care for them. Be sure to ask what support is available for you and your child.  

 

Additional Resources