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Lookup NU author(s): Rachael Taylor
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2024. Background: Beta-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. Methods: The 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. Results: There 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. Conclusion: There 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.
Author(s): Naylor RN, Patel KA, Kettunen JLT, Mannisto JME, Beltrand J, Polak M, Franks PW, Rich SS, Wagner R, Vilsboll T, Vesco KK, Udler MS, Tuomi T, Sweeting A, Sims EK, Sherr JL, Semple RK, Reynolds RM, Redondo MJ, Redman LM, Pratley RE, Pop-Busui R, Pollin TI, Perng W, Pearson ER, Ozanne SE, Owen KR, Oram R, Murphy R, Mohan V, Misra S, Meigs JB, Mathioudakis N, Mathieu C, Ma RCW, Loos RJF, Lim SS, Laffel LM, Kwak SH, Josefson JL, Hood KK, Hivert M-F, Hirsch IB, Hattersley AT, Griffin K, Greeley SAW, Gottlieb PA, Gomez MF, Gloyn AL, Florez JC, Dennis JM, Costacou T, Boyle K, Billings LK, Brown RJ, Philipson LH, Nolan JJ, Eckel RH, Sherifali D, Mixter E, Mekonnen EG, Gruber C, Fawcett AJ, de Souza R, Auh S, Zhu Y, Zhang C, Saint-Martin C, Provenzano M, Pomares-Millan H, Njolstad PR, Nakabuye M, Molnes J, McGovern A, Maloney KA, Flanagan SE, de Franco E, Aukrust I, Zhou SJ, Zhang Y, Yu G, White SL, Hannah W, Wentworth JM, Vatier C, Van der Schueren B, Urazbayeva M, Ukke GG, Tye SC, Taylor R, Stoy J, Stoy J, Stefan N, Steck AK, Steenackers N, Stanislawski MA, Speake C, Sheu WH-H, Selvin E, Scholtens DM, Monaco GSF, Sarkar S, Kanbour S, Santhakumar V, Saeed Z, Ried-Larsen M, Ray D, Jain R, Quinteros A, Powe CE, Petrie JR, Perez D, Pazmino S, Pathirana M, Pankow JS, Onengut-Gumuscu S, Motala AA, Morton RW, Lowe WL, Long SA, Liu K, Libman IM, Leung GKW, Leong A, Koivula RW, Jones AG, Johnson RK, Hoag B, Ismail HM, Harris-Kawano A, Huang C, Hansen T, Habibi N, Guasch-Ferre M, Grieger JA, Goodarzi MO, Gitelman SE, Fitzpatrick SL, Fitipaldi H, Fernandez-Balsells MM, Evans-Molina C, Dudenhoffer-Pfeifer M, DiMeglio LA, Dickens LT, Deutsch AJ, Dawed AY, Dabelea D, Clemmensen C, Chivers SC, Chikowore T, Cheng F, Chen M, Bonham MP, Andersen MK, Amouyal C, Young K, Yamamoto JM, Wong JJ, Wang CC, Wallace AS, Tosur M, Thuesen ACB, Tam CH-T, Takele WW, Svalastoga P, Sevilla-Gonzalez M, Semnani-Azad Z, Schon M, Rooney MR, Raghavan S, Prystupa K, Pilla SJ, Patel KA, Ozkan B, Most J, Morieri ML, Miller RG, Mclennan N-M, Massey R, Lim L-L, Kreienkamp RJ, Kahkoska AR, Jacobsen LM, Ikle JM, Hughes A, Haider E, Gaillard R, Gingras V, Gillard P, Francis EC, Felton JL, Duan D, Cromer SJ, Corcoy R, Colclough K, Clark AL, Bodhini D, Benham JL, Aiken C, Ahmad A, Merino J, Tobias DK, Greeley SAW
Publication type: Article
Publication status: Published
Journal: Communications Medicine
Year: 2024
Volume: 4
Online publication date: 18/07/2024
Acceptance date: 19/06/2024
Date deposited: 02/10/2024
ISSN (electronic): 2730-664X
Publisher: Springer Nature
URL: https://doi.org/10.1038/s43856-024-00556-1
DOI: 10.1038/s43856-024-00556-1
Data Access Statement: All data used in this systematic review are publically available in the published scientific literature. Search strategies used for each monogenic diabetes subtype are detailed in Supplemental Tables 1–5. PRISMA figures were generated in Covidence. Excel files of the included studies corresponding to each PRISMA diagram are available as supplemental data (Supplementary Data 2).
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