ANNOUNCEMENT

NOBEL PRIZE 2026

This year's laureates, their fields, and the discoveries that earned them the prize.Live nowSee the winners
Moonbase
← Back to Awards
NIHNATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

LEAD PROJECT 1: PHENYLKETONURIA (PKU)

Active
Institution
CHILDREN'S HOSP OF PHILADELPHIA, PA
Principal investigator
Kiran Musunuru
Funding
$1.8M
Duration
2023–2028
Open portfolio

Moonbase score

Still being scored

Abstract

PROJECT SUMMARY Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase (PAH), resulting in the accumulation of phenylalanine (Phe) to neurotoxic levels. Among the five most frequently occurring pathogenic PAH variants worldwide is the c.842C>T (P281L) mutation, which is amenable to adenine base editing. The current treatment options have significant limitations—a strict low-Phe diet to which many patients find it difficult to adhere, and a daily injectable enzyme therapy with a substantial risk of anaphylaxis. Lead Project 1 will focus on a lipid nanoparticle (LNP)-based adenine base editing treatment for PKU in patients with the P281L variant, with the aim to file an IND application by the end of the five-year funding period and begin a phase 1/2 clinical trial soon afterwards.

LOADING MOONBASE SCORE

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKEU19Special Emphasis Panel[ZRG1-MGG-G]editingbase editingautosomal recessiveadenineanaphylaxisbasepahlnp

Questions for CHILDREN'S HOSP OF PHILADELPHIA

Answered by the team behind this research.

No questions yet. Sign in to ask the first one

Related grants

Same researchers, same institution, same topic, scored first.