Urea cycle disorders (UCDs) are genetic conditions most commonly diagnosed in children that result in the body’s inability to metabolize protein from food, resulting in the buildup of ammonia, eventually leading to toxicity. Potential complications of the disorder include brain and organ function issues, manifesting as lethargy, nausea, vomiting, confusion, developmental delays, behavioral changes, and more. UCDs affect around 1 in 35,000 people in the United States.
UCDs are inherited from both parents having recessive genes, meaning both parents must have a genetic mutation and pass it on to their child. Various genetic mutations may cause different types of UCDs; N-acetylglutamate synthase mutations, carbamoylphosphate synthetase I mutations, ornithine transcarbamylase mutations, and more.
Currently, UCDs are treated with BUPHENYL® (sodium phenylbutyrate) and RAVICTI® (glycerol phenylbutyrate.)Both drugs come with a robust side effect profile. For example, BUPHENYL® has a strong odor and salty taste, which may result in difficulties for children to take it. Additionally, it can induce nausea, vomiting, and headaches, which are intolerable for some children. RAVICTI® can cause different side effects such as sleepiness, lightheadedness, confusion, headache, and more.
These side effects result in barriers to adherence for patients taking the medication, resulting in a need for new drugs. That is where ACER Therapeutics comes into play with their new drug, ACER-001, which has been proven to have similar bioavailability and pharmacokinetics to BUPHENYL® (sodium phenylbutyrate), without the side effect profile.
ACER-001 was shown to be easier to stomach and relatively odorless compared to BUPHENYL®, which is a very large source of concern, especially for children, who tend to be more sensitive to the different odors and textures of medicines. It is important to continue researching inherited disorders, despite how rare they may be, and ACER-001 is a promising drug to continue monitoring in its early stages.