Predisposition Genes in Monogenic Diabetes (DIAMONO)

NCT02634229 | Completed

• 1 other identifier: NI11010
• Study Type: observational
• Target: 96
• Locations: 0 countries
• Sites: N/A

Brief Summary

Monogenic diabetes accounts for 1-2% of diabetes cases, although it is often misdiagnosed as either type 1 diabetes or type 2 diabetes. Knowledge of the genetic etiology of diabetes enables more appropriate treatment, better prediction of disease progression, screening of family members and genetic counseling. These monogenic diabetes result from gene mutations that reduce beta-cell function. To date, about 20 genes involved in insulin-secretion pathway hav been identified; they correspond to a broad of two main clinical conditions \[neonatal diabetes mellitus (NDM) and Maturity-Onset Diabetes of the Young (MODY)\]. However, it still remains subtypes of monogenic diabetes that are unelucidated. The investigators project focus on families with a clinical and familial history highly suggesting a MODY diabetes but without genetic etiology. The investigators objective is to set up a collection of families with at least three family members presenting a MODY diabetes.

Conditions

Non Autoimmune Monogenic Diabetes

Keywords

monogenic diabetes; MODY; beta-cell; insulin secretion

Outcome Measures

Primary Outcomes (1)

• Identification of novel predisposition gene

  Identification of pathogenic mutations segregating with the "diabetes" phenotype and absent in unaffected relatives.

  1 day

Secondary Outcomes (7)

• Correlation between genotype and age at diagnosis

  1 day

• Correlation between genotype and BMI

  1 day

• Correlation between genotype and treatment

  1 day

• Correlation between genotype and mode of presentation

  1 day

• Correlation between genotype and complications of diabetes

  1 day

Study Arms (2)

Diabetic family members

(i) probands negative for GCK/MODY2 , HNF1A/MODY3 genes and HNF4A/MODY1; (ii) dominant inheritance of diabetes (three consecutive affected generations, or two generations with at least 2 diabetic patients in a generation); (iii) Diagnosis of diabetes before age 40 years in at least 3 diabetic family members; (iv) negative testing for anti-GAD and IA2-antibodies; and (v) body mass index \< 30 kg/m2 (to avoid inclusion of patients with insulin-resistant type 2 diabetes).

Genetic: blood sample

Healthy relatives

Healthy subjects whose relationship is relevant for genetic analysis and necessary for the validation step (family cosegregation study)

Genetic: blood sample

Interventions

blood sample GENETIC

Diabetic family members; Healthy relatives

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Diabetic family members and healthy relatives

You may qualify if:

• No mutations in known genes associated with MODY (GCK, HNF1A, HNF4A)
• ≥ 3 cases of diabetes in the family over several generations
• An age at diagnosis of diabetes \<40 years for 3 subjects diabetics in the family
• Absence of anti-GAD and anti-A2 of antibodies
• No argument for type 2 diabetes

You may not qualify if:

• Diabetic subjects
• Healthy subjects whose relationship is relevant for genetic analysis and necessary for the validation step (family cosegregation study)
• These subjects will be over the age of 18, affiliated to a social protection scheme or copyright holder and will signed an informed consent

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

Diabetes Mellitus, Type 2

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Christine BELLANNE-CHANTELOT, PharmD-PhD

  Assistance Publique - Hôpitaux de Paris

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 5, 2015
• First Posted: December 17, 2015
• Study Start: September 1, 2012
• Primary Completion: October 1, 2015
• Study Completion: October 1, 2015
• Last Updated: February 17, 2016

Record last verified: 2015-08