P028: Design of a randomized, double-blind, placebo-controlled, phase 3, efficacy and safety trial of repinatrabit in adults with phenylketonuria

Genetics in Medicine Open 2026 Open access

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Authors: Cary Harding, Nicola Longo, Markey McNutt, Ania Muntau, Rani Singh, Toby Vaughn, Helene Schluep, Wei Li (7081), Tracie Davis, John Idso, Fernanda Leal-Pardinas
DOI: 10.1016/j.gimo.2026.103519
Cited by: 1

Abstract

Phenylketonuria (PKU) is caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene, rendering the enzyme unable to metabolize phenylalanine (Phe) and leading to its toxic accumulation in the body, including the brain. Solute heterozygote family 6 member 19 (SLC6A19) is a large neutral amino acid transporter and the major transporter responsible for the (re)absorption of Phe in the kidney and intestine. Repinatrabit (JNT-517), an inhibitor of SLC6A19, demonstrated clinically meaningful reduction of plasma Phe by enhancing urinary Phe excretion in a Phase 2 trial conducted in adults with PKU.

Fields of Study & Subjects

Metabolism and Genetic Disorders Pharmacogenetics and Drug Metabolism Blood disorders and treatments

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
103519–103519
Publication date
1 January 2026
Language
EN