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Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies (DiAGeNA)

Epidemiological, Clinical, Biological and Genetic Specificities of Atypical Non-AutoImmune Diabetes (ANAID) in the French West Indies

Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known monogenic diabetes or identified as involved in glucose metabolism and its regulation, in insulin signaling pathways or in insulin secretion itself in subjects of African and Indian ancestry with atypical forms of non autoimmune diabetes.

Studieoversigt

Detaljeret beskrivelse

In the French West Indies, the prevalence of diabetes is twice as high as that reported at the national level with a clinical and biological phenotype which seems different, undoubtedly linked to genetic polymorphisms sometimes correlated with specific environmental exposures in these territories. The two most common forms of diabetes are type 1 diabetes (T1D), which accounts for around 5 - 10% of all diabetes, and type 2 diabetes (T2D), which is much more common (around 90 - 95 %). However, in practice, forms of atypical diabetes are described more and more frequently in young subjects, without an autoimmune context, occurring in a family context or not, without the classic phenotype of common type 2 diabetes with the observation in certain populations episodes of ketoacidosis which can be life-threatening. Genetic variants involved in glucose metabolism and its regulation, in insulin signaling pathways, or insulin secretion itself could explain the occurrence of this type of diabetes or episodes of ketoacidosis in these subjects with an evolution towards more or less early insulin withdrawal. The genetic sampling, which is part of the routine etiological diagnosis of these atypical forms, will be carried out with clinical and metabolic evaluation carried out as part of routine care. Unfortunately, this genetic research is not always done systematically. This is a multicenter prospective observational study. This research will be cross-sectional in order to identify in subjects presenting forms of atypical non-autoimmune diabetes (DNAI) found in subjects of African and Indian ancestry in the French West Indies, the presence of known pathogenic mutations described in monogenic diabetes of the MODY type (GCK, HNF1A, HNF4A, PDX1, HNF1B, NEUROD1, CEL, INS, ABCC8, KCNJ11, GATA6, WFS1, TRMT10A, PCBD1, GATA4, APPL1, RFX6, MAFA, SLC19A2, ONECUT1, m.3243A>G, KCNK16) but also new mutations in genes involved in glucose metabolism and its regulation, in insulin signaling pathways, or insulin secretion and this thanks to a molecular screening of the entire exome. A longitudinal follow-up is secondarily planned in order to determine the appearance of complications according to the presence of pathogenic genetic mutations that will have been identified.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

118

Kontakter og lokationer

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Studiekontakt

Studiesteder

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Voksen

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

subjects of African and Indian ancestry with atypical forms of non autoimmune diabetes.

Beskrivelse

Inclusion Criteria:

Phenotypic criteria :

Subjects from Indian or African Ancestry self-declared

Age criteria at diagnosis:

Early onset of diabetes: patient aged between 18 and 47 years at the time of diagnosis of diabetes Clinical criteria: at least 2 criteria Labeled type 2 diabetic

Patient hospitalized for:

Ketoacid decompensation Significant weight loss (more than 10% in less than 6 months) without obvious etiology Lipodystrophic / lipoatrophic appearance Presence of an associated myopathy or deafness Presence of early inaugural nephropathy or within 3 years after diagnosis Presence of early inaugural heart disease or within 3 years after diagnosis Poor response to non-insulin treatments despite good adherence

Biological criteria:

Absent T1D autoantibodies:

Anti-islet antibodies (ICA) Anti-IA2 antibodies Anti-insulin antibodies Anti-ZnT8 antibodies Anti-GAD antibodies

Other criteria:

Informed consent signed by the patient

Exclusion Criteria:

Type 1 diabetes (T1D) Presence of T1D antibodies Secondary diabetes (pancreas diseases, endocrine diseases, drug intake, infection) Other associated autoimmune pathologies Pregnancy Refusal to participate

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

Gruppe / kohorte
case
subjects of African and Indian ancestry with atypical forms of non autoimmune diabetes.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
known pathogenic mutations described in monogenic diabetes of the MODY type
Tidsramme: At inclusion
pourcentage
At inclusion

Sekundære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
new pathogenic mutations identified in genes involved in glucose metabolism and its regulation,
Tidsramme: At inclusion
pourcentage
At inclusion
genetic mutations.
Tidsramme: At inclusion
présence/absence
At inclusion
association between clinical and biological data and DNAI
Tidsramme: At inclusion
odds ration
At inclusion
comparing the genetic data found in African and Indian ancestry population
Tidsramme: At inclusion
Results with a significant p-value (p < 0.05)
At inclusion

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Efterforskere

  • Ledende efterforsker: Fritz-Line VELAYOUDOM, Doctor, CHU de la Guadeloupe

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Anslået)

1. juni 2026

Primær færdiggørelse (Anslået)

1. september 2029

Studieafslutning (Anslået)

1. september 2029

Datoer for studieregistrering

Først indsendt

4. maj 2026

Først indsendt, der opfyldte QC-kriterier

4. maj 2026

Først opslået (Faktiske)

8. maj 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

8. maj 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

4. maj 2026

Sidst verificeret

1. maj 2026

Mere information

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