Evidence map›Paper›PMID 33604241›Full record

ArticleMolecular genetics and metabolism reports2021

The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.

Markku J Savolainen, Antti Karlsson, Samppa Rohkimainen, Iiro Toppila, Mariann I Lassenius, Carlos Vaca Falconi, Kristiina Uusi-Rauva, Kaisa Elomaa

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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-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.

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, 11 citations in OpenAlex.

  1. Article
  2. Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025
    Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. 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 2 countries.

Markku J SavolainenOulu University Hospital, PO Box 10, 90029 OYS, Oulu, Finland.
Antti KarlssonAuria Biobank, Turku University Hospital, University of Turku, PO Box 52, 20521 Turku, Finland.
Samppa RohkimainenBiobank Borealis of Northern Finland, PO Box 50, 90029 OYS, Oulu, Finland.
Iiro ToppilaMedaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
Mariann I LasseniusMedaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
Carlos Vaca FalconiTakeda Pharma AB, Vasagatan 7, 11120 Stockholm, Sweden.
Kristiina Uusi-RauvaMedaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
Kaisa ElomaaTakeda Oy, Ilmalantori 1, 00101 Helsinki, Finland.
Borealis (Finland) · FIOulu University Hospital · FITakeda (Sweden) · SETurku University Hospital · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGaucher disease (GD) is a rare inherited multiorgan disorder, yet a diagnosis can be significantly delayed due to a broad spectrum of symptoms and lack of disease awareness. Recently, the prototype of a GD point-scoring system (PSS) was established by the Gaucher Earlier Diagnosis Consensus (GED-C) initiative, and more recently, validated in Gaucher patients in UK. In our study, the original GED-C PSS was tested in Finnish GD patients. Furthermore, the feasibility of point scoring large electronic health record (EHR) data set by data mining to identify potential undiagnosed GD cases was evaluated.

methodsThis biobank study was conducted in collaboration with two Finnish biobanks. Five previously diagnosed Finnish GD patients and ~ 170,000 adult biobank subjects were included in the study. The original PSS was locally adjusted due to data availability issues and applied to the Finnish EHR data representing special health care recordings.

resultsAll GD patients had high levels of the biomarker lyso-Gb1 and deleterious DISCUSSION: This study provides an indicative GED-C PSS score range for confirmed GD patients, also representing potential mild cases, and demonstrates the feasibility of scoring Finnish EHR data by data mining in order to screen for undiagnosed GD patients. Further prioritisation of the "GD suspects" with more developed algorithms and data-mining approaches is needed.

fundingThis study was funded by Shire (now part of Takeda).

Indexed as

Biobank studyDBS, dried blood spotEHR, Electronic health recordElectronic health recordGaucher diseaseGaucher earlier diagnosis consensus point-scoring systemGBAGBA1/GBA, β-glucocerebrosidase geneGD, Gaucher diseaseGED-C, The Gaucher Earlier Diagnosis ConsensusGlcCerase, β-glucosylceramidaseGlcCer, β-glucosylceramideGlcSph/Lyso-Gb1, β-glucosylsphingosineHDSF, Hospital District of Southwest FinlandLyso-Gb1NOHD, Northern Ostrobothnia Hospital DistrictPSS, Point-scoring system

Identifiers

PMID33604241
PMCPMC7875822
OpenAlexW3128242080

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.