Phenylketonuria (PKU)
Condition Description
Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Loss-of-function mutations in PAH, the rate-limiting enzyme in phenylalanine (Phe) catabolism, lead to the neurotoxic accumulation of Phe. Toxic Phe concentrations cause intellectual disability (in children), cognitive impairment, psychiatric disease, attention deficit disorders, epilepsy, depression, anxiety, and behavioral problems (de Groot 2009).
Active Trials
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TRIAL TITLE: A Phase 1, First-in-Human, Multiple Part, Single Ascending and Multiple Dose Study of JNT-517 in Healthy Participants and in Participants with Phenylketonuria.
DESCRIPTION: The goal of Parts A and B of this Phase 1, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the goal is to evaluate the differences in bioavailability between a tablet and suspension formulation of JNT-517 and the food effect in healthy volunteers.
SPONSOR: Jnana Therapeutics, Inc.
INDICATION: Phenylketonuria (PKU)
STUDY PROTOCOL: JNT517-101
PHASE: 1/1b
STATUS: Active
RECRUITING PATIENTS: No