Evidence map›Paper›PMID 34453334›Full record

Observational studyJournal of inherited metabolic disease2021

A diagnostic confidence scheme for CLN3 disease.

Margaux C Masten, Camille Corre, Alex R Paciorkowski, Amy Vierhile, Heather R Adams, Jennifer Vermilion, Grace A Zimmerman, Erika F Augustine, Jonathan W Mink

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–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.

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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Article
  4. Molecular syndromology · 2023
    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

9 authors.

Margaux C MastenDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Camille CorreDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Alex R PaciorkowskiDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Amy VierhileDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Heather R AdamsDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Jennifer VermilionDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Grace A ZimmermanDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Erika F AugustineDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Jonathan W MinkDepartment of Neurology, University of Rochester, Rochester, New York, USA.ORCID 0000-0002-7867-3710

Funding

Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
University of Rochester Intellectual and Developmental Disabilities Research CenterP50HD103536 · NICHD · UNIVERSITY OF ROCHESTER · PI JOHN J FOXE, Anna K Majewska · 2020 to 2026
$9.8M
Meaningful Outcomes and Multi-Site Readiness for Clinical Trials in Juvenile Neuronal Ceroid LipofuscinosisU01NS101946 · NINDS · UNIVERSITY OF ROCHESTER · PI AUGUSTINE, ERIKA · 2019 to 2024
$3.7M
Clinical and Neuropsychological Investigations in Batten DiseaseR01NS060022 · NINDS · UNIVERSITY OF ROCHESTER · PI MINK, JONATHAN W. · 2007 to 2010
$1.2M
University of Rochester Child Neurology Academic Development ProgramK12NS066098 · NINDS · UNIVERSITY OF ROCHESTER · PI MINK, JONATHAN W. · 2009 to 2013
$1.1M
NICHD NIH HHS P50 HD103536NINDS NIH HHS K12 NS066098NINDS NIH HHS R01 NS060022NINDS NIH HHS U01 NS101946NINDS NIH HHS U54 NS065768
6 · The paper itself

Abstract

Over the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long-term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major classes: Definite, Probable, or Possible CLN3 disease. An additional level, CLN3 Disease PLUS, includes individuals with CLN3 disease plus an additional disorder with a separate etiology that substantially affects the phenotype. Within the Definite and Probable CLN3 disease classes, we further divided individuals into subclasses based on phenotype. After assigning participants to classes, we performed a blinded reclassification to assess the reliability of this scheme. A total of 134 individuals with suspected CLN3 disease were classified: 100 as Definite, 21 as Probable, and 7 as Possible. Six individuals were classified as CLN3-PLUS. Phenotypes included the classical juvenile-onset syndromic phenotype, a "vision loss only" phenotype, and an atypical syndromic phenotype. Some individuals were too young to fully classify phenotype. Test-retest reliability showed 96% agreement. We created a reliable diagnostic confidence scheme for CLN3 disease that has excellent face validity. This scheme has implications for clinical research in CLN3 and other rare genetic neurodegenerative disorders.

Indexed as

PhenotypeAdolescentAdultChildChild, PreschoolFemaleGenotypeHumansInfantMaleMembrane GlycoproteinsMolecular ChaperonesNeuronal Ceroid-LipofuscinosesProspective StudiesYoung AdultCLN3 protein, humanMembrane GlycoproteinsMolecular ChaperonesBatten diseasediagnosislysosomal disordersnatural historyneurodegenerative diseaseneuronal ceroid lipofuscinosis

Identifiers

PMID34453334
PMCPMC9248362

What OpenQuestion holds

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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.