Ketohexokinase Inhibition in Hereditary Fructose Intolerance
Status:
Completed
Trial end date:
2023-11-30
Target enrollment:
Participant gender:
Summary
Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism. Patients with HFI
develop acute abdominal pain, nausea, vomiting, hypoglycemia and proximal tubular dysfunction
upon consumption of a fructose containing food product. In rare cases, (prolonged) fructose
consumption can even lead to liver and kidney failure. Patients with HFI are therefore
treated with a lifelong fructose-restricted diet. Animal studies have shown that the clinical
manifestations of HFI are abrogated upon inhibition of ketohexokinase (KHK), the enzyme that
catalyses the first step in fructose metabolism.
Recently, PF-06835919, a KHK inhibitor (KHKi), was developed as a new treatment for
non-alcoholic fatty liver disease. The compound was well tolerated in several phase II
clinical trials.
It is hypothesized that PF-06835919 is also effective in patients with HFI.