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Disease

Phenylketonurias

Late-stage therapeutic developmentEmerging researchRising momentum

MeSHPhenylketonurias

3

Publications

7

Clinical trials

4

Associated genes

1

Related proteins

2025

Latest publication

Current focus

Phenylalanine-4-hydroxylase biologyTherapeutic developmentGenetics & risk factorsMetabolic & lifestyle factors

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

A Phase 4 Study to Evaluate the Impact of a Rapid Drug Desensitization (RDD) Protocol for Adults With Phenylketonuria and Experiencing Hypersensitivity Reactions to Palynziq

Clinical trial2026-10-01Status changed to Completed · ClinicalTrials.gov

A Phase 3 Open-Label Study of PTC923 (Sepiapterin) in Phenylketonuria

Clinical trial2026-09-09Status changed to Completed · ClinicalTrials.gov

A Phase 3 Multi-Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) With Phenylketonuria- Open-Label Randomized Two-Arm (Active vs Diet-Only Control)

Clinical trial2026-07-21Results posted · ClinicalTrials.gov

Therapeutic engineering of the gut microbiome using synthetic biology and metabolic tools: a comprehensive review with E. coli Nissle 1917 as a model case study.

Research2025-08-06Archives of microbiology

Marketing authorisation: Sephience (EMA)

Regulatory2025-06-19EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial expected to report results, the earliest in Q4 2030.

Upcoming Milestones

Q4 2030An Open-Label, Multiple-Center, Phase I/II Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic Phenylketonuria

Major developments

Upcoming trial readoutImportant

An Open-Label, Multiple-Center, Phase I/II Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic Phenylketonuria

Results expected Q4 20302026-08-18

Clinical Milestones1View

Results expected 1

2026-08-18An Open-Label, Multiple-Center, Phase I/II Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic PhenylketonuriaResults expected Q4 2030

Activity timeline1

2026-08-18ClinicalAn Open-Label, Multiple-Center, Phase I/II Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic PhenylketonuriaResults expected Q4 2030

Clinical trials

5 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

7

All trials

1

Active

3

Late-stage

3

Completed

Late-stage studies

A Phase 3, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

Phase 3 · Completed · BioMarin Pharmaceutical

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phase 3 · Completed · BioMarin Pharmaceutical

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phase 3 · Completed · BioMarin Pharmaceutical

Recruiting

An Open-Label, Multiple-Center, Phase I/II Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic Phenylketonuria

Phase 1/2 · Recruiting · NGGT INC.

Recently completed

A Phase 3, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

Phase 3 · Completed · BioMarin Pharmaceutical

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phase 3 · Completed · BioMarin Pharmaceutical

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phase 3 · Completed · BioMarin Pharmaceutical

Research activity

3 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time

2018–2025

Most influential

Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria.

Nature biotechnology · 2018 · 387 cites

Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.

American journal of human genetics · 2023 · 26 cites

Therapeutic engineering of the gut microbiome using synthetic biology and metabolic tools: a comprehensive review with E. coli Nissle 1917 as a model case study.

Archives of microbiology · 2025 · 4 cites

Recent publications

Therapeutic engineering of the gut microbiome using synthetic biology and metabolic tools: a comprehensive review with E. coli Nissle 1917 as a model case study.

Archives of microbiology · 2025 · 4 cites

Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.

American journal of human genetics · 2023 · 26 cites

Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria.

Nature biotechnology · 2018 · 387 cites

Major themes7

Escherichia coli1
Gastrointestinal Microbiome1
Genetic Therapy1
Metabolic Engineering1
Phenylalanine Hydroxylase1
Phenylketonurias1
Synthetic Biology1

Leading journals3

American journal of human genetics1
Archives of microbiology1
Nature biotechnology1

Leading researchers8

Ahrens-Nicklas RC1
Anderson CL1
Bergeron CG1
Brooks DL1
Castillo MJ1
Falb D1
Fisher AB1
Guilmain SE1

Affiliations (unnormalised)5

Cardiovascular Institute1
College of Veterinary Medicine1
Medical School1
Perelman School of Medicine at the University of Pennsylvania1
Swami Vivekananda Institute of Modern Sciences1

Associated genes

4 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

PAH0.89 QDPR0.85 NSUN20.47 FDXR0.27

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Phenylalanine-4-hydroxylasevia PAH0.89

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Identifiers

MeSHPhenylketonurias

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
Related entities are derived from literature co-mention (studied together) — associative, not causal.