Evidence map›Paper›PMID 32087678›Full record

ArticleBMC nephrology2020

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.

Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W Lee, Samantha Stark, Maria Fuller, Wendy E Hoy

Open access · goldAbstract readClinical Trial Protocol
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC nephrology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

8 citing papers in PubMed, 17 citations in OpenAlex.

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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

10 authors at 4 institutions in 1 country.

Andrew MallettKidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia. Andrew.mallett@health.qld.gov.au.ORCID 0000-0002-8752-2551
Phoebe KeareyFaculty of Medicine, The University of Queensland, Brisbane, Australia.
Anne CameronFaculty of Medicine, The University of Queensland, Brisbane, Australia.
Helen HealyKidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Charles DenaroFaculty of Medicine, The University of Queensland, Brisbane, Australia.
Mark ThomasDepartment of Nephrology, Royal Perth Hospital, Perth, Australia.
Vincent W LeeDepartment of Renal Medicine, Westmead Hospital, Sydney, Australia.
Samantha StarkGenetics and Molecular Pathology Laboratory (SA Pathology), Adelaide, Australia.
Maria FullerGenetics and Molecular Pathology Laboratory (SA Pathology), Adelaide, Australia.
Wendy E HoyFaculty of Medicine, The University of Queensland, Brisbane, Australia.
The University of Queensland · AUSouth Australia Pathology · AURoyal Perth Hospital · AUThe University of Sydney · AU

Funding

Sanofi Genzyme GZ-2015-11442
6 · The paper itself

Abstract

backgroundFabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body. FD has an x-linked inheritance pattern. Previously thought to be only carriers, females can also experience FD symptomatology. Symptoms vary in type and severity from patient to patient and tend to increase in severity with age. FD symptoms are non-specific and may be shared with those of other diseases. Misdiagnoses and diagnostic delays are common, often resulting in progressive, irreversible tissue damage. The estimated prevalence of FD in the general population is 1:40,000 to 1:117,000 individuals. However, it is estimated that the prevalence of FD in the dialysis population is 0.12 to 0.7%. Little is known about the prevalence of FD in the broader Chronic Kidney Disease (CKD) population.

methodsThis is an epidemiological study of the prevalence of FD in CKD patents identified from the public renal speciality practices in Queensland, Australia. A cascade approach to screening is being employed with dried blood spot testing for blood levels of alpha-galactosidase A (Alpha-Gal), with follow-up testing for patients with abnormal results by plasma levels of globotriaosylsphingosine (Lyso-GB3) for females and non-definitive cases in males. A diagnosis of FD is confirmed through genetic testing of the GLA gene in cases suspected of having FD based upon Alpha-Gal and Lyso-GB3 testing. DISCUSSION: Expected outcomes of this study include more information about the prevalence of FD at all stages of CKD, including for both males and females. The study may also provide information about common characteristics of FD to assist with diagnosis and optimal management/treatment. Screening is also available for family members of diagnosed patients, with potential for early diagnosis of FD and intervention for those individuals.

trial registrationQueensland Health Database of Research Activity (DORA, https://dora.health.qld.gov.au) pj09946 (Registered 3rd July 2017).

Indexed as

Fabry DiseaseRenal Insufficiency, ChronicAdultalpha-GalactosidaseClinical Studies as TopicDelayed DiagnosisFemaleGlycolipidsHumansMalePrevalenceProspective StudiesQueenslandRenal DialysisSphingolipidsalpha-Galactosidaseglobotriaosyl lysosphingolipidGlycolipidsSphingolipidsAlpha-galactosidaseFabry diseaseGenetic testingLysosomal storage disorder

Identifiers

PMID32087678
PMCPMC7035781
OpenAlexW3011368872

What OpenQuestion holds

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LicenceCC BY
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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.