According to a press release from HemoShear Therapeutics, the company has recently received official clearance from the US Food and Drug Administration (FDA) in regards to its Investigational New Drug (IND) application. This clearance will allow the company to proceed with a phase 2 clinical trial. This trial will test HemoShear’s experimental therapy HST5040 as a treatment for two different types of acidemia: propionic and methylmalonic.
About Propionic and Methylmalonic Acidemia
Acidemia describes a state of abnormally low blood pH as the result of an elevated level of acid in the blood. In propionic acidemia, the excessive buildup of propionic acid occurs usually as a result of a genetic mutation impacting the PCCA or PCCB genes. Methylmalonic acidemia is also typically caused by a mutation. These disorders can lead to severe, systemic symptoms that can cause major damage to many of the body’s organs. Developmental delays are possible and symptoms such as poor feeding, fatigue, poor muscle tone, vomiting, and failure to thrive may appear in infants affected by these disorders. Infections, toxic levels of ammonia, seizures, stroke, and organ failure can be potentially fatal. A low protein diet is a critical strategy for managing these disorders, and liver or kidney transplant may be necessary in severe cases. There is a serious need for more effective treatment for methylmalonic, propionic, and other forms of acidemia.
To learn more about propionic acidemia, click here.
To learn more about methylmalonic acidemia, click here.
About the Trial
With a lack of disease modifying treatments for these rare disorders, the successful development of a new medication would herald a major breakthrough. HemoShear is aiming to run the trial with at least a dozen patients with these disorders. The company aims to enroll patients who are 12 years or older with plans to eventually expand to patients two years or older.
The trial is planned to begin with an open-label dose escalation portion. The study will then move to a double-blind placebo controlled crossover stage, followed by a planned open-label long term extension portion.
HST5040 is being developed as an orally active small molecule therapy that is expected to be capable of having impacts on a variety of systems that are affected by acidemias, such as the heart, muscles, and brain. The propionic and methlymalonic acidemia communities should keep an eye on this trial, which could make a huge difference in the treatment of these disorders.