Evidence map›Paper›PMID 34815941›Full record

ArticleMolecular genetics and metabolism reports2021

A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials.

Barbara K Burton, Anne Skalicky, Christoph Baerwald, Deborah A Bilder, Cary O Harding, Aaron B Ilan, Elaina Jurecki, Nicola Longo, David T Madden, H Serap Sivri and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 29% 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.

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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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 9 institutions in 4 countries.

Barbara K BurtonAnn & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Anne SkalickyPatient-Centered Research, Evidera, Seattle, WA, USA.
Christoph BaerwaldRheumatology Unit, Department of Internal Medicine, Neurology and Dermatology, University Medical Center Leipzig, Leipzig, Germany.
Deborah A BilderDepartment of Psychiatry, Division of Child & Adolescent Psychiatry, Huntsman Mental Health Institute, University of Utah, Salt Lake City, UT, USA.
Cary O HardingDepartment of Medical and Molecular Genetics, Oregon Health & Science University, Portland, OR, USA.
Aaron B IlanBioMarin Pharmaceutical Inc., Novato, CA, USA.
Elaina JureckiBioMarin Pharmaceutical Inc., Novato, CA, USA.
Nicola LongoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
David T MaddenBioMarin Pharmaceutical Inc., Novato, CA, USA.
H Serap SivriHacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey.
Gisela WilcoxSchool of Medical Sciences, University of Manchester & The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
Janet ThomasDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.
Kathleen DelaneyBioMarin Pharmaceutical Inc., Novato, CA, USA.
BioMarin (United States) · USHacettepe University · TRHuntsman Cancer Institute · USLurie Children's Hospital · USOregon Health & Science University · USSalford Royal NHS Foundation Trust · GBUniversity Hospital Leipzig · DEUniversity of Colorado Denver · USUniversity of Utah · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
NCATS NIH HHS UL1 TR002538
6 · The paper itself

Abstract

introductionCurrent clinical outcome assessments (COAs) are not effectively capturing the complex array of symptoms of adults with phenylketonuria (PKU). This study aimed to identify concepts of interest relevant to adults with PKU. Based on these concepts, COAs for patient-reported outcomes (PROs), observer-reported outcomes (ObsROs), and clinician-reported outcomes (ClinROs) were selected or developed and content validity was assessed. MATERIALS AND

methodsConcept-elicitation interviews were conducted with an international cohort of adults with PKU (

resultsConcepts of interests were identified across four domains: emotional, cognitive, physical, and behavioral. After mapping, eight existing COAs were selected based on the concept coverage (six PROs, one ObsRO, and one ClinRO). The six PRO measures were considered as potentially fit-for-purpose. The ObsRO measure was not deemed relevant for use in observers of adults with PKU and only a subscale of the ClinRO measure was considered valid for assessing adults with PKU by clinicians. Due to the lack of existing COAs covering all concepts of interests, global impression items for symptom severity and change in symptoms were developed, which were limited to one question covering in total 14 concepts. Upon validation, some of the patient and observer global impression items were excluded as they were subject to lack of insight or could not be reported by observers. Due to the limited interaction time between clinician and patient, use of the clinician global impression items was not supported.

conclusionExisting COAs relevant to adults with PKU were selected and PKU-specific global impression items were developed by mapping the most frequently identified concepts of interests from internationally-conducted in-depth interviews. Future studies should address the appropriateness of the selected COAs and global impression items to assess if these can be used as efficacy endpoints in PKU clinical trials.

Indexed as

ADHD, Attention Deficit Hyperactivity DisorderADHD RS-IV, Attention Deficit Hyperactivity Disorders Rating Scale-IVAdultsCAARS-O:Long, Conners' Adult ADHD Rating Scales-Observer Report Long VersionCGI, Clinician Global ImpressionClinical outcome assessmentsClinician-reported outcomesClinROs, Clinician-Reported OutcomesCOAs, Clinical Outcome AssessmentsCOIs, Concepts Of InterestsFDA, Food and Drug AdministrationHRQoL, Health-Related Quality of LifeIRB, Institutional Review BoardNeuro-QoL, Quality of Life in Neurological DisordersObserver-reported outcomesObsROs, Observer-Reported OutcomesOGI, Observer Global ImpressionPAH, Phenylalanine HydroxylasePatient-reported outcomesPGI, Patient Global ImpressionPhenylketonuriaPhe, PhenylalaninePKUPKU, PhenylketonuriaPKU-QOL, PKU Quality of LifePROMIS, Patient Reported Outcome Measurement Information SystemPROs, Patient-Reported OutcomesQoL, Quality of Life

Identifiers

PMID34815941
PMCPMC8591457
OpenAlexW3214165297

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.