Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins)

MODY (Maturity-Onset Diabetes of the Young) is characterized by autosomal dominant mode of inheritance, early onset of diabetes in the absence of autoimmunity directed to pancreatic β-cells, impaired insulin secretory capacity, however, maintained over time, and extra-pancreatic manifestations in some patients. Its prevalence has been estimated 0.6% to 6.5% of all diabetes in Europe and the USA. Pathogenic variants in the genes encoding glucokinase or transcription factors HNF1A or HNF4A are responsible for the majority of cases of monogenic forms of diabetes referred to as MODY. The objective of the French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins) dedicated to GCK-MODY (formerly MODY2), HNF1A-MODY (MODY3), and HNF4A-MODY (MODY1) is to provide to health professionals a guide for optimal management and care of patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Thorough analysis of personal and family history, clinical examination and biochemical testing are key to raise the diagnosis, which has to be confirmed by molecular analysis. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. Overall, the management of patients with MODY requires the collaboration of several health care providers.

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Journal
Orphanet Journal of Rare Diseases
Published
2026-03-31
DOI
https://doi.org/10.1186/s13023-026-04272-y
Primary Topic
Diabetes and associated disorders
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article
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article

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins)

Jean‐Claude Carel, Hélène Cavé, Bruno Donadille, J. Nizard et al.
Orphanet Journal of Rare Diseases
Diabetes and associated disorders
article

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins)

Jean‐Claude Carel, Hélène Cavé, Bruno Donadille, J. Nizard, Rachel Reynaud, Dominique Langin, Sonja Janmaat, Sophie Jacqueminet, Pierre Gourdy, Cécile Ciangura, Marc De Kerdanet, Igor Tauveron, Christine Bellanné-Chantelot, Christiane Damgé, Sabine Baron, Danièle Dubois-Laforgue, Cécile Saint-Martin, Corinne Vigouroux, Chloé Amouyal, Delphine Collin-Chavagnac, Marie-Christine Vantyghem, Elise Bismuth, Clara Bouché, Michel Polak, Laurence Kessler, Anne Vambergue, Marc Nicolino, Camille Vatier, Pascal Barat, Jacques Beltrand, Sophie Christin-Maitre, René Valéro, Jean-Baptiste Arnoux, Jean-Charles Nault, Brigitte Delemer
article en

Abstract

MODY (Maturity-Onset Diabetes of the Young) is characterized by autosomal dominant mode of inheritance, early onset of diabetes in the absence of autoimmunity directed to pancreatic β-cells, impaired insulin secretory capacity, however, maintained over time, and extra-pancreatic manifestations in some patients. Its prevalence has been estimated 0.6% to 6.5% of all diabetes in Europe and the USA. Pathogenic variants in the genes encoding glucokinase or transcription factors HNF1A or HNF4A are responsible for the majority of cases of monogenic forms of diabetes referred to as MODY. The objective of the French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins) dedicated to GCK-MODY (formerly MODY2), HNF1A-MODY (MODY3), and HNF4A-MODY (MODY1) is to provide to health professionals a guide for optimal management and care of patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Thorough analysis of personal and family history, clinical examination and biochemical testing are key to raise the diagnosis, which has to be confirmed by molecular analysis. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. Overall, the management of patients with MODY requires the collaboration of several health care providers.

Orphanet Journal of Rare DiseasesVol. 17(S1)
Université Claude Bernard Lyon 1 (FR), Hôpital Necker-Enfants Malades (FR), Université de Bordeaux (FR), Inserm (FR), Université Fédérale de Toulouse Midi-Pyrénées (FR), Université Paris Cité (FR), Aix-Marseille Université (FR), Université de Lille (FR), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Nantes (FR), Université Rennes 2 (FR), Sorbonne Université (FR), Hôpital Femme Mère Enfant (FR), Assistance Publique Hôpitaux de Marseille (FR), Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR), Association Française de Chirurgie (FR), Université Sorbonne Paris Nord (FR), Hôpital Cochin (FR), Hôpital de la Conception (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), University of Clermont Auvergne (FR), Centre Hospitalier Universitaire de Reims (FR), Bordeaux Population Health (FR), Centre de Recherche en Nutrition Humaine Rhône-Alpes (FR), Pitié-Salpêtrière Hospital (FR), Fédération française de cardiologie (FR), Hôpital Robert-Debré (FR), Laboratoire de recherche en cardiovasculaire, métabolisme, diabétologie et nutrition (FR), Fondation de Rothschild (FR), Institut Cochin (FR), ERN GUARD-Heart (NL), Hôpital Claude Huriez (FR), Hôpital Civil, Strasbourg (FR), The Patients Association (GB), Institut des Maladies Génétiques Imagine (FR), European Genomic Institute for Diabetes (FR), Maladies génétiques d’expression pédiatrique, Université de Strasbourg (FR), HCL Technologies (India) (IN), Université de Reims Champagne-Ardenne (FR), Nantes Université (FR)
Openalex Percentile: Top 35%
Diabetes and associated disorders
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