Evidence map›Paper›PMID 41954389›Full record

Observational studyJournal of inherited metabolic disease2026

Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.

Curtis R Coughlin, John Barber, Chaya N Murali, Members of the Urea Cycle Disorders Consortium (UCDC), Greta Wilkening

Registry-linked trialAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00237315 (Longitudinal Study of Urea Cycle Disorders), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

NCT00237315 unknown statusnot on this map

Longitudinal Study of Urea Cycle Disorders

TypeobservationalSponsorAndrea GropmanRan2006 to 2026Enrolled1,500ConditionsBrain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Observational
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

5 authors.

Curtis R CoughlinSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0002-3545-7903
John BarberDivision of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia, USA.
Chaya N MuraliDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID https://orcid.org/0000-0002-9781-3387
Members of the Urea Cycle Disorders Consortium (UCDC)
Greta WilkeningDepartment of Pediatrics, Children's Hospital of Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Funding

Training (Career Development) ComponentU54HD061221 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI NAGAMANI, SANDESH CHAKRAVARTHY SREENATH · 2009 to 2023
$20.8M
Eunice Kennedy Shriver National Institute of Child Health and Human Development U54HD061221Kettering FoundationNCATS NIH HHS U54HD061221NICHD NIH HHS U54 HD061221NIDDK NIH HHS U54HD061221O'Mally Foundation
6 · The paper itself

Abstract

Multiple studies have assessed Health-Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self-reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints required to assess efficacy. This was an ambispective study of participants enrolled in the Longitudinal Study of Urea Cycle Disorders (NCT00237315) conducted by the Urea Cycle Disorders Consortium (UCDC). Inclusion criteria included age ≥ 18 years and at least one completion of one of five HRQoL patient-reported outcome measures (PROMs). A total of 144 participants met inclusion criteria. Covariates included age at last assessment, sex at birth, specific UCD subtype, symptomatic status, treatments, and disease severity. The enrollees' self-reported HRQoL T-scores were not significantly different from the normative population. Whereas participants categorized as asymptomatic differed from those categorized as symptomatic in terms of disease severity, age at last HRQoL, and full-scale IQ, overall HRQoL did not differ. A model including age, sex, specific UCD subtype, symptomatic status, and disease severity revealed that perceived cognitive function was related to specific UCD subtype, while Anxiety and Emotional and Behavioral Dyscontrol were associated with sex at birth. When post-liver transplant participants were excluded, the pattern of associations was unchanged. Among adults with UCDs, responses on HRQoL measures revealed no significant differences in HRQoL when compared to normative populations. Cognitive reserve did not moderate the impact of diagnosis or treatment. Additional work in understanding and measuring HRQoL in this population is required.

Indexed as

Quality of LifeUrea Cycle Disorders, InbornAdolescentAdultFemaleHumansLongitudinal StudiesMaleMiddle AgedPatient Reported Outcome MeasuresSelf ReportSeverity of Illness IndexYoung Adulthealth‐related quality of lifepatient‐reported outcome measuresurea cycle disorders

Identifiers

PMID41954389
PMCPMC13064420

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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.