Evidence map›Paper›PMID 40329398›Full record

ReviewOrphanet journal of rare diseases2025

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Charlotte Laurfelt Munch Rasmussen, Annette Burkhart, Torben Moos, Louiza Bohn Thomsen

Erratum issuedAbstract readReview
In one paragraph

Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Charlotte Laurfelt Munch RasmussenNeurobiology Research and Drug Delivery, Department of Health Science and Technology, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark. clmrasmussen@health.sdu.dk.ORCID https://orcid.org/0000-0001-6535-3729
Annette BurkhartNeurobiology Research and Drug Delivery, Department of Health Science and Technology, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark.ORCID https://orcid.org/0000-0003-2086-4693
Torben MoosNeurobiology Research and Drug Delivery, Department of Health Science and Technology, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark.ORCID https://orcid.org/0000-0001-9989-0207
Louiza Bohn ThomsenNeurobiology Research and Drug Delivery, Department of Health Science and Technology, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark. lbt@hst.aau.dk.ORCID http://orcid.org/0000-0002-3144-7150

Funding

Lundbeck Foundation 2013-14113
6 · The paper itself

Abstract

The lack of essential information when reporting animal studies causing lower reproducibility has been stressed for decades. The ARRIVE (Animal Research: Reporting of In Vivo Experiments) guidelines were first published in 2010, to improve reporting of animal research, making in vivo studies more transparent thereby improving the scientific quality. Regardless of an endorsement from the scientific community, there is still a continuous need to improve animal research reporting, which unfortunately also is the case in the field of Niemann-Pick type C disease (NPC). NPC is a lipid storage disorder, caused by mutations in either the Npc1 or Npc2 gene. Despite years of research, no cure for this fatal disease exists. In 2020, an updated version of the ARRIVE guidelines (ARRIVE 2.0), was published, describing the ten most essential elements to be included when reporting pre-clinical studies. Here we systematically reviewed the compliance with the ARRIVE guidelines using the "ARRIVE Essential 10" checklist in a series of pre-clinical studies investigating gene therapy as a treatment strategy for NPC. None of the reviewed papers fulfilled the ARRIVE 2.0 guidelines. Information regarding sample size, randomization, blinding, and statistical methodology was lacking. Hopefully, the newly updated ARRIVE guidelines will aid researchers in planning and publishing in vivo experiments in the future. More awareness of the importance of including these essential items is needed, both from editors, reviewers and researchers, for complete endorsement of the ARRIVE guidelines in the scientific community.

Indexed as

Genetic TherapyNiemann-Pick Disease, Type CAnimalsHumansARRIVE 2.0ARRIVE guidelinesGene therapyNiemann-Pick type C diseaseNPC

Identifiers

PMID40329398
PMCPMC12054331

What OpenQuestion holds

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LicenceCC BY
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.