Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.
UCDs are a group of rare, inherited metabolic disorders caused by deficiency of one of the six enzymes in the urea cycle responsible for removing ammonia from the blood stream. The most common of these enzymes are OTC, ASS, and ASL. Urea is a byproduct of the metabolism that, in normal cases, is converted to urea and removed from the blood. However, in UCDs, nitrogen builds up in the blood in the form of ammonia, resulting in hyperammonemia. Common symptoms include vomiting, lethargy, seizures, and developmental delays. In more severe cases UCD can lead to irreversible brain damage, coma, and death.
Current treatments for UCDs focus on managing ammonia levels through dietary restrictions, medications, and in severe cases, liver transplants. The condition has no therapies that target the underlying cause of disease.
CAMP4 is currently working on CMP-CPS-001, a novel investigational therapy designed to address the underlying cause of UCDs by regulating genes associated with the condition. The first clinical trial of this program was initiated in March 2024 with a phase 1 single-ascending dose study in healthy volunteers. Following the completion of this trial, a multiple-ascending dose study was initiated.
Recently, the company announced a phase 1b expansion of this study in an OTC heterozygote population. Upon completion of this extension, the goal is to transition into a phase 3 registrational clinical trial in the second half of 2026.
For more information on CAMP4 Therapeutics and their work, click here.
To learn more about rare metabolic conditions, visit https://checkrare.com/diseases/metabolic-disorders/