Evidence map›Paper›PMID 42583353›Full record

ReviewCureus2026

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine.

Oscar Mingtian Li, Yijiang Li, Summer Xia Tian Li

Abstract readReview
In one paragraph

Review in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Oscar Mingtian LiBiomedical Engineering, Zweistein Innovation Lab, Active Care & Education in Sports and Outreach Foundation (ACESO Foundation), Dublin, USA.
Yijiang LiCardiovascular Medicine, Zweistein Innovation Lab, Active Care & Education in Sports and Outreach Foundation (ACESO Foundation), Dublin, USA.
Summer Xia Tian LiHuman Biology, Zweistein Innovation Lab, Active Care & Education in Sports and Outreach Foundation (ACESO Foundation), Dublin, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe neonatal-onset inborn errors of metabolism (IEMs), such as urea cycle disorders including carbamoyl phosphate synthetase 1 (CPS1) deficiency and the classic organic acidemias, present within days of birth with metabolic decompensation that carries high early mortality and, in survivors, a substantial burden of neurologic injury despite optimal medical management. Because most cases arise from defined point mutations, these disorders are conceptually well suited to one-time genetic correction. Base editing, which installs precise single-base changes without generating double-strand DNA breaks, and its companion technology, prime editing, have moved rapidly from laboratory description to in vivo demonstration in animals and, most recently, to a single human patient. In 2025, an infant with CPS1 deficiency ('KJ') received a bespoke lipid nanoparticle-delivered base-editing therapy designed and manufactured for that individual's specific variant, becoming the first reported recipient of a customized in vivo gene-editing medicine. This review synthesizes the clinical rationale for genetic correction of neonatal IEMs, the mechanistic basis and delivery strategies (lipid nanoparticles and adeno-associated virus) that make in vivo base editing feasible, and the preclinical evidence that preceded the first human case. We then examine the ethical dimensions of bespoke 'N-of-1' genetic medicine: the somatic versus germline distinction; consent for a non-autonomous neonate; equity, cost, and scalability; and the evolving regulatory pathway for individualized therapies. We conclude by distinguishing what has been proven in a single patient and in preclinical models from what remains speculative and by outlining what would need to generalize for a single case to become a platform.

Indexed as

base editingcps1 deficiencygene editinggenetic therapyinborn errors of metabolismlipid nanoparticlesn-of-1 therapyurea cycle disorders

Identifiers

PMID42583353
PMCPMC13460412

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.