Evidence map›Paper›PMID 35848209›Full record

ArticleMolecular genetics & genomic medicine2022

Adults with lysosomal storage diseases in the undiagnosed diseases network.

Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M Hisama, Cynthia J Tifft, Camilo Toro

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 31% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Review
  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

8 authors at 4 institutions in 1 country.

Changrui XiaoNational Human Genome Research Institute, Bethesda, Maryland, USA.ORCID 0000-0001-9536-3389
Mary KoziuraDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Heidi CopeDepartment of Pediatrics, Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Rebecca SpillmanDepartment of Pediatrics, Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Khoon TanDepartment of Pediatrics, Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Fuki M HisamaDepartment of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington, USA.
Cynthia J TifftNational Human Genome Research Institute, Bethesda, Maryland, USA.
Camilo ToroNational Human Genome Research Institute, Bethesda, Maryland, USA.
Duke Medical Center · USNational Human Genome Research Institute · USUniversity of Washington Medical Center · USVanderbilt University Medical Center · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
Pathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1M
NHGRI NIH HHS U01 HG007672
6 · The paper itself

Abstract

objectivesTo review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).

methodsRetrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease.

resultsTen patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non-diagnostic clinical exome sequencing.

conclusionsLSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges.

Indexed as

Lysosomal Storage DiseasesMucopolysaccharidosis IIIUndiagnosed DiseasesHumansPhenotypeadult metabolic medicineLate Onet Tay Sachslysosomal storage disordersMPS IMPS III

Identifiers

PMID35848209
PMCPMC9482386
OpenAlexW4285800228

What OpenQuestion holds

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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.