Emerging treatments
Gene therapy
Gene therapy has demonstrated some effectiveness in animal models and limited human trials; further research is required.[24]
Pharmacological chaperones
Several pharmacological compounds have been identified that stabilise the conformation of normal and mutant phenylalanine hydroxylase (PAH). In an animal model of phenylketonuria (PKU), these chaperones increased hepatic PAH activity.[25]
Sepiapterin
Sepiapterin, an oral small-molecule natural precursor to the intracellular enzymatic co-factor BH4, has shown promise in treating PKU. In a phase 3 randomised, double-blind, placebo-controlled trial, 73% of patients were responsive to sepiapterin, with a significant reduction in blood phe concentrations observed after 6 weeks of treatment with sepiapterin compared with placebo.[26] Treatment was generally well-tolerated, with 59% of patients experiencing adverse events, most of which were mild gastrointestinal symptoms that resolved quickly. More research is needed to further evaluate the efficacy and safety of sepiapterin.
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