Evidence map›Paper›PMID 37690181›Full record

ReviewMolecular genetics and metabolism2023

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

Chaya N Murali, John R Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N Wilkening, Ron D Hays, Uta Lichter-Konecki and 3 more

Registry-linked trialOpen access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism, 2023. 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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.0field-weighted citation impact, top 25% of its field
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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Observational
  3. Review
  4. Article
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

13 authors at 6 institutions in 1 country.

Chaya N MuraliDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
John R BarberChildren's National Health System, Washington, DC, USA.
Robert McCarterChildren's National Health System, Washington, DC, USA.
Anqing ZhangChildren's National Health System, Washington, DC, USA.
Natalie GallantDepartment of Pediatrics, University of California Irvine, Irvine, CA, USA.
Kara SimpsonChildren's National Health System, Washington, DC, USA.
Naghmeh DorraniDepartment of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA.
Greta N WilkeningDepartment of Neuroscience, University of Colorado, Aurora, CO, USA.
Ron D HaysDepartment of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Uta Lichter-KoneckiDepartment of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Members of the Urea Cycle Disorders Consortium
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
Sandesh C S NagamaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: Nagamani@bcm.edu.
Children's National · USTexas Children's Hospital · USUniversity of California, Los Angeles · USUniversity of California, Irvine · USUniversity of Colorado Denver · USUniversity of Pittsburgh · US

Funding

Training (Career Development) ComponentU54HD061221 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI NAGAMANI, SANDESH CHAKRAVARTHY SREENATH · 2009 to 2023
$20.8M
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4M
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9M
DISSECTING THE LINK BETWEEN UREAGENESIS AND HEPATIC GLYCOGEN METABOLISMR01DK126786 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI BURRAGE, LINDSAY C · 2021 to 2025
$2.3M
NICHD NIH HHS P50 HD103555NICHD NIH HHS U54 HD061221NIDDK NIH HHS R01 DK126786NIGMS NIH HHS T32 GM007526
6 · The paper itself

Abstract

purposeIndividuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.

methodsWe reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study. Physical and psychosocial HRQoL in people with UCDs were compared to HRQoL in healthy people and people with phenylketonuria (PKU) and diabetes mellitus. We assessed relationships between HRQoL, UCD diagnosis, and disease severity. Finally, we calculated sample sizes required to detect changes in these HRQoL measures.

resultsIndividuals with UCDs demonstrated worse physical and psychosocial HRQoL than their healthy peers and peers with PKU and diabetes. In children, HRQoL scores did not differ by diagnosis or severity. In adults, individuals with decreased severity had worse psychosocial HRQoL. Finally, we show that a large number of individuals would be required in clinical trials to detect differences in HRQoL in UCDs.

conclusionIndividuals with UCDs have worse HRQoL compared to healthy individuals and those with PKU and diabetes. Future work should focus on the impact of liver transplantation and other clinical variables on HRQoL in UCDs.

Indexed as

Diabetes MellitusHyperammonemiaLiver TransplantationPhenylketonuriasUrea Cycle Disorders, InbornAdultChildHumansMulticenter Studies as TopicQuality of LifeHealth-related quality of lifeUrea cycle disordersUrea cycle disorders consortium

Identifiers

PMID37690181
PMCPMC10866211
OpenAlexW4386553273

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.