Evidence map›Paper›PMID 30228318›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen and 5 more

Registry-linked trialAbstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04802707 (A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

NCT04802707 phase2recruitingnot on this mapstarted 2021, after this paper: background citation

A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders

TypeinterventionalSponsorKenneth Myers, MDRan2021 to 2029Enrolled200ConditionsMitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA DepletionArmsdeoxycytidine and deoxythymidine
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Omar HikmatDepartment of Pediatrics, Haukeland University Hospital, Bergen, Norway.
Charalampos TzoulisDepartment of Clinical Medicine (K1), University of Bergen, Norway.
Wui K ChongDepartment of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Latifa ChentoufMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
Claus KlingenbergDepartment of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.
Carl FratterOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Lucinda J CarrDepartment of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Prab PrabhakarDepartment of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Nandhini KumaraguruDepartment of Paediatrics, Nottingham University Hospital NHS Trust, Nottingham, UK.
Paul GissenMetabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
J Helen CrossDepartment of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Thomas S JacquesDevelopmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
Jan-Willem TaanmanDepartment of Clinical Neurosciences, UCL Institute of Neurology, London, UK.
Laurence A BindoffDepartment of Clinical Medicine (K1), University of Bergen, Norway.
Shamima RahmanMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK. shamima.rahman@ucl.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Since the online publication of the article, the authors have noted errors with Table 2; this has now been corrected in both the HTML and the PDF.

Identifiers

PMID30228318

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.