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Last update 08 May 2025

Maturity-Onset Diabetes of the Young, Type 3

Last update 08 May 2025

Basic Info

Synonyms

Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)

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Introduction

Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.

Clinical Trials associated with Maturity-Onset Diabetes of the Young, Type 3

CTIS2023-503760-17-00

/ Not yet recruitingPhase 2IIT

Effects of empagliflozin on plasma glucose in patients with HNF1A-MODY: a randomized, double-blind, crossover trial

Start Date12 Oct 2023

Sponsor / Collaborator

Steno Diabetes Center A/S

NCT05417646

/ CompletedNot ApplicableIIT

Impact of SGLT2 on Glucosuria in HNF1A-MODY

Maturity onset diabetes of the young (MODY) is a subtype of diabetes which is caused by mutations in specific genes leading to diabetes. The most common cause of MODY is due to mutations in the gene hepatocyte nuclear factor 1 alpha (HNF1A) and is consequently named HNF1A-MODY (or MODY3). HNF1A-MODY is associated with urinary excretion of glucose at lower blood glucose levels compared to other types of diabetes. Normally, glucose is reabsorbed by sodium-glucose cotransporter 2 (SGLT2), but SGLT2 is downregulated due to the mutation in HNF1A. Investigators aim to evaluate the impact of the decreased expression of SGLT2 on glucosuria in patients with HNF1A-MODY compared to patients with type 2 diabetes (T2D) using a single dose of an SGLT2 inhibitor during a glucose clamp experiment.

Start Date22 Jun 2022

Sponsor / Collaborator

Steno Diabetes Center A/S

[+1]

EUCTR2017-000204-15-DK

/ Not yet recruitingPhase 2IIT

Glimepiride monotherapy vs. combination of glimepiride and linagliptin therapy in patients with HNF1A-diabetes - GLIMLINA-trial

Start Date08 Aug 2017

Sponsor / Collaborator-

100 Clinical Results associated with Maturity-Onset Diabetes of the Young, Type 3

100 Translational Medicine associated with Maturity-Onset Diabetes of the Young, Type 3

0 Patents (Medical) associated with Maturity-Onset Diabetes of the Young, Type 3

258

Literatures (Medical) associated with Maturity-Onset Diabetes of the Young, Type 3

01 Oct 2024·Diabetic Medicine

Clinical effects of SGLT2 inhibitors in seven persons with HNF1A‐MODY (MODY3)

Letter

Author: Maagensen, Henrik ; Thuesen, Anne Cathrine Baun ; Hansen, Torben ; Vilsbøll, Tina ; Krogh, Jesper ; Hædersdal, Sofie ; Knop, Filip Krag

Maturity-onset diabetes of the young (MODY) is a heterogeneous subset of monogenic diabetes characterized by early onset of diabetes, typically between the second and fifth decade of life.Pathogenic variants in HNF1A cause one of the most prevalent MODY types named HNF1A-MODY (or MODY3).Here, we describe seven individuals with HNF1A-MODY treated with SGLT2 inhibitors as add-ons to Sulfonylureas (SU), insulin and incretin-based therapies.At initiation of SGLT2 inhibitor, all persons (n = 7) were treated with SU (glimepiride) and incretin-based therapy, four persons were treated with insulin and one with metformin.The persons carried the following HNF1A variants: c.956- 2A>G (n = 2), p.Glu332Ter, p.Leu12Phe, p.Pro-379Ala, p.Pro379fs, p.Tyr218Cys.In the present cases, the SGLT2 inhibitor was used as adjunctive therapy together with insulin secretagogues.Initiation of SGLT2 inhibitor treatment in these seven persons with HNF1A-MODY was associated with clin. relevant reductions in HbA1c, body weight and insulin use and was well- tolerated.

01 Aug 2024·Heliyon

Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas

Article

Author: Deng, Aiping ; Wang, Zhongjing ; Wang, Xiufang ; Cheng, Wenzhuo ; Liu, Chao ; Li, Juyi

BackgroundWe assessed the response to sulfonylureas and the functional characteristics of HNF1A mutations in patients with maturity-onset diabetes of the young type 3 (MODY3).MethodsWe recruited a family with suspected MODY in this study, and gene sequencing (whole-exome sequencing) was used to screen germline mutations. Luciferase reporter assays were used to evaluate the activity of the mutated genes.ResultsHeterozygous HNF1A variant (NM_000545.8:c.1330_1331del, p.Gln444fs) was identified in the proband and was not found in his father, grandmother, and nonrelated healthy controls. The mutant protein had 552 amino acids, 110 fewer than the wild type protein. Furthermore, the amino acid sequence was completely different between the mutant protein and the wild type protein starting from the 444th amino acid. Luciferase reporter assays revealed that the variant had impaired HNF4A promoter-regulation activity. The patient did not achieve good hypoglycemic effects during long-term treatment with insulin and metformin. The effect of hypoglycemic treatment was highly significant after the addition of sulfonylurea drugs.ConclusionsThe HNF1A p.Gln444fs variant associated with MODY3, and most likely a truncated protein, impaired HNF1A transcriptional activity. The variant carrier experienced an enhanced response to sulfonylureas.

10 Jul 2024·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes].

Article

Author: Feng, Yueying ; Ding, Shuxia ; Zhang, Pingping ; Fang, Jie ; Li, Haibo ; Yan, Lulu

OBJECTIVETo explore the clinical characteristics and molecular basis for children and adolescents with monogenic diabetes.METHODSA retrospective analysis was carried out for the clinical manifestations and laboratory data of 116 children and adolescents diagnosed with diabetes at Ningbo Women and Children's Hospital from January 2020 to March 2023. Whole exome sequencing and mitochondrial gene sequencing were carried out on 21 children with suspected monogenic diabetes.RESULTSA total of 10 cases of monogenic diabetes were diagnosed, all of which were Maturity-onset Diabetes Of the Young (MODY). Six cases of MODY2 were due to GCK gene mutations, 1 case of MODY3 was due to HNF1A gene mutation, 2 cases of MODY12 were due to ABCC8 gene mutations, and 1 case of MODY13 was due to KCNJ11 gene mutation. Nine of the 10 patients with MODY had no typical symptoms of diabetes. A family history of diabetes was significantly more common in the MODY group compared with the T1DM and T2DM groups (P < 0.05). The BMI of the MODY group was higher than that of the T1DM group (P < 0.05). The initial blood glucose level was lower than that of the T1DM group (P < 0.05), and there was no significant difference compared with the T2DM group. The fasting C-peptide level of the MODY group was higher than that of the T1DM group (P < 0.05), and there was no significant difference compared with the T2DM group. Glycosylated hemoglobin of the MODY group was lower than both the T1DM and T2DM groups (P < 0.05).CONCLUSIONIn this study, MODY has accounted for the majority of monogenic diabetes among children and adolescents, and the common mutations were those of the GCK gene in association with MODY2. Blood glucose and glycosylated hemoglobin of children with MODY were slightly increased, whilst the islet cell function had remained, and the clinical manifestations and laboratory tests had overlapped with those of type 2 diabetes. WES and mitochondrial gene sequencing can clarify the etiology of monogenic diabetes and facilitate precise treatment.

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Maturity-Onset Diabetes of the Young, Type 3

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