Evidence map›Paper›PMID 39025920›Full record

ArticleCommunications medicine2024

Precision treatment of beta-cell monogenic diabetes: a systematic review.

Rochelle N Naylor, Kashyap A Patel, Jarno L T Kettunen, Jonna M E Männistö, Julie Støy, Jacques Beltrand, Michel Polak, ADA/EASD PMDI, Tina Vilsbøll, Siri A W Greeley and 2 more

Abstract read
In one paragraph

Article in Communications medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
–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

16 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2026
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Sulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.Diabetic medicine : a journal of the British Diabetic Association · 2025
    Article
  10. Article
  11. Article
  12. Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025
    Review
  13. Article
  14. Review
  15. Article
  16. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Rochelle N NaylorDepartments of Pediatrics and Medicine, University of Chicago, Chicago, IL, USA.
Kashyap A Patel *University of Exeter Medical School, Department of Clinical and Biomedical Sciences, Exeter, Devon, UK.ORCID http://orcid.org/0000-0002-9240-8104
Jarno L T Kettunen *Helsinki University Hospital, Abdominal Centre/Endocrinology, Helsinki, Finland.ORCID http://orcid.org/0000-0002-9995-698X
Jonna M E Männistö *Departments of Pediatrics and Clinical Genetics, Kuopio University Hospital, Kuopio, Finland.
Julie Støy *Steno diabetes center Aarhus, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-4698-0393
Jacques BeltrandAPHP Centre Hôpital Necker Enfants Malades Université Paris Cité, Paris, France.
Michel PolakInserm U1016 Institut Cochin, Paris, France.
ADA/EASD PMDI
Tina VilsbøllDepartment of Clinical Medicine, University of Copenhagen, København, Denmark.
Siri A W GreeleyDepartments of Pediatrics and Medicine, University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-0741-3567
Andrew T HattersleyUniversity of Exeter Medical School, Department of Clinical and Biomedical Sciences, Exeter, Devon, UK.
Tiinamaija TuomiHelsinki University Hospital, Abdominal Centre/Endocrinology, Helsinki, Finland. Tiinamaija.tuomi@hus.fi.ORCID http://orcid.org/0000-0002-8306-6202

Funding

RADIANT Clinic and Data Coordinating CenterU54DK118612 · NIDDK · UNIVERSITY OF CHICAGO · PI Louis H. Philipson, Miriam Sargon Udler · 2018 to 2026
$21.9M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI GRAEME I BELL, Raghavendra G Mirmira · 2013 to 2026
$20.9M
Monogenic Diabetes: Next Generation Diagnosis, Treatment and ComplicationsR01DK104942 · NIDDK · UNIVERSITY OF CHICAGO · PI GREELEY, SIRI ATMA W., PHILIPSON, LOUIS H. · 2016 to 2024
$4.7M
NIDDK NIH HHS P30 DK020595NIDDK NIH HHS R01 DK104942NIDDK NIH HHS U54 DK118612Wellcome Trust
6 · The paper itself

Abstract

backgroundBeta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD) due to m.3243 A > G variant, 6q24-transient neonatal diabetes mellitus (TND) and SLC19A2-diabetes.

methodsThe search of PubMed, MEDLINE, and Embase for individual and group level data for glycemic outcomes using inclusion (English, original articles written after 1992) and exclusion (VUS, multiple diabetes types, absent/aggregated treatment effect measures) criteria. The risk of bias was assessed using NHLBI study-quality assessment tools. Data extracted from Covidence were summarized and presented as descriptive statistics in tables and text.

resultsThere are 146 studies included, with only six being experimental studies. For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration. A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes. Cohort and case studies support SU's effectiveness in lowering HbA1c. Two cross-over trials (each with 15-16 individuals) suggest glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes is limited. Most reported patients with HNF1B-diabetes (N = 293) and MD (N = 233) are on insulin without treatment studies. Limited data support oral agents after relapse in 6q24-TND and for thiamine improving glycemic control and reducing/eliminating insulin requirement in SLC19A2-diabetes.

conclusionThere is limited evidence, and with moderate or serious risk of bias, to guide monogenic diabetes treatment. Further evidence is needed to examine the optimum treatment in monogenic subtypes.

Identifiers

PMID39025920
PMCPMC11258280

What OpenQuestion holds

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Registered trials

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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.