Evidence map›Paper›PMID 42775060›Full record

ArticleMolecular genetics and metabolism reports2026

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria.

C M A Lubout, A M J van Wegberg, E van Adrichem-van Dam, M E Jansen, E M van Steenis, M R Heiner-Fokkema, F J van Spronsen

Registry-linked trialAbstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05166161 (A Phase 3 Open-Label Study of PTC923), which is not on this map. Not yet cited in PubMed.

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0citing papers in PubMed
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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.

NCT05166161 phase3active not recruitingnot on this map

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

TypeinterventionalSponsorPTC TherapeuticsRan2022 to 2026Enrolled200ConditionsPhenylketonuriaArmsPTC923
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

7 authors.

C M A LuboutDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.
A M J van WegbergDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.
E van Adrichem-van DamDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.
M E JansenDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.
E M van SteenisDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.
M R Heiner-FokkemaDepartment of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands.
F J van SpronsenDivision of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Treatment in phenylketonuria (PKU) is aimed at lowering blood phenylalanine (Phe) levels, however the target blood Phe levels in adults with PKU are a matter of ongoing debate. Objective: To describe the experience of adults with PKU regarding mood and self-reported functioning during a period with higher and/or lower blood Phe levels than they were used to during an interventional trial with Sepiapterin. Methods: Eight adults with PKU were included in an open label interventional trial with Sepiapterin (Sephience®, Phase 3 APHENITY Extension Study NCT05166161). Per protocol, participants who were receiving Sapropterin ( Results: Participants reported worse functioning when their blood Phe levels were higher than usual and improved functioning when their blood Phe levels were lower than usual. Conclusions: Adults with PKU may experience worsened self-reported functioning at higher blood Phe levels and improved functioning when Phe is lower than their usual blood Phe levels. Therapies that reduce blood Phe levels without the need of a strict diet offer the possibility to objectively study the impact of lower blood Phe levels in adults with PKU and may eventually facilitate individualized target blood Phe levels.

Indexed as

FunctioningPhenylalanine levelsPhenylketonuriaSapropterinSepiapterin

Identifiers

PMID42775060
PMCPMC13595149

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Registered trials

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.