HemoShear - Model HST5040 - Investigational Oral Small Molecule Therapy for MMA and PA - Datasheet

Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare intoxication-type inborn errors of metabolism that are characterized by acute metabolic decompensations, acidosis and hyperammonemia leading to severe organ damage, seizures, developmental deficits, and premature death. In the United States, about 1 in 70,000 newborns is diagnosed with MMA, and 1 in 240,000 is diagnosed with PA. There are an estimated 4,000 MMA and PA patients in the US and Europe combined. Despite standard of care involving dietary therapy, carnitine, and in severe cases, organ transplantation, there remains a high unmet medical need in MMA and PA.