Assess the Possibility of Diagnosing Diabetes and Rediabetes Following Oral Induced Hyperglycemia in Patients With Dunnigan's Partial Familial Lipodystrophy by Replacing 75 g of Glucose With a Standardized Carbohydrate Breakfast and Continuous Interstitial Monitoring Glucose) (HGPO-DUN)

Dunnigan's syndrome is a partial familial lipodystrophy due to a mutation in the Lamine A LMNA gene. This very rare syndrome is 20 times more common in Réunion compared to the rest of Europe with several families suffering from a unique variant of LMNA, the p.(Thr655Asnfs*49) variant known as the "Reunion variant", the appearance of which in Reunion dates back to the 17th century. This variant is expressed in homozygous and heterozygous form and has only been identified in subjects from Reunion. Clinically, patients with Dunnigan's have an absence of subcutaneous fatty tissue which mainly affects the lower part of the body and leads to severe insulin resistance responsible for early diabetes. To detect these metabolic complications as early as possible, an annual follow-up of the subjects is recommended with the performance of an OGTT test annually in non-diabetic subjects. This problem is identical for patients with cystic fibrosis leading to the same recommendation. However, whether in our experience of monitoring patients with Dunningan's lipodystrophy, in subjects at risk of diabetes or in subjects with cystic fibrosis, the OGTT test and even more so its repetition is poorly accepted, which can lead to lack of patient follow-up. An alternative solution to the OGTT is therefore justified.

In the literature, different avenues have been explored. First, given oral glucose intolerance, replacement with a standardized breakfast has been explored in several studies. Another alternative tested in the population of subjects with cystic fibrosis is the use of an interstitial glucose sensor for screening for carbohydrate abnormalities.

In view of the literature, we formulate several hypotheses that will be tested in our study:

1. The intake of a standardized breakfast containing 75g of carbohydrates is comparable to the ingestion of 75g of glucose on the result of the OGTT test at 120 min for the diagnosis of carbohydrate abnormalities (diabetes and prediabetes) in patients with Dunnigan's lipodystrophy.
2. The continuous recording of interstitial glycaemia over several days allows the diagnosis of glucidic abnormalities equivalent to the classic OGTT in this population; possibly by identifying glycemic variations not seen by a single OGTT test. Thus the installation of an interstitial sensor over several days could be an alternative to the realization of the OGTT in the identification of carbohydrate disorders in patients with Dunnigan's lipodystrophy.
3. There will be a similar profile but a time lag between venous glycemic curves and interstitial blood glucose measurements after OGTT.
4. Replacing the oral glucose load of the classic OGTT (gold standard) with a standardized carbohydrate breakfast leads to similar interstitial glycaemia curves but with a time lag.

Study Overview

• Status: Recruiting
• Conditions: Lipodystrophy
• Intervention / Treatment: Diagnostic test: Standardized breakfast

• Study Type: Interventional
• Enrollment (Estimated): 60
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Réunion
  • Saint Denis, Réunion, 97400
    • Recruiting
    • Centre hospitalier universitaire de la Réunion
    • Principal Investigator: Estelle NOBECOURT, MD, PhD
    • Contact: Estelle NOBECOURT; Phone Number: 0262359000; Email: promotion.drci@chu-reunion.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Subject with Dunnigan's partial familial lipodystrophy followed at Reunion University Hospital not known to be diabetic.

Aged 18 to 75 Having given their informed consent.

Exclusion Criteria:

• Diabetic patient Patient scheduled for scan within 7 days of freestyle placement protected persons: "pregnant woman, parturient, nursing mother, person deprived of liberty by judicial or administrative decision, minor, and person subject to a measure of legal protection: guardianship or curatorship)"

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Standardized breakfast to replace in fine oral induced hyperglycemia test	Diagnostic test: Standardized breakfast; Standardized breakfast to replace in fine oral induced hyperglycemia test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
standardized breakfast test resuslt compare to oral induced hyperglycemia test	To assess the concordance between the standard breakfast-induced hyperglycemia test and the classic oral induced hyperglycemia test (gold standard) on the diagnosis of glycemic abnormalities at 120 minutes (min) in patients with Dunnigan's Lipodystrophy in Reunion. It is considered good if > 80%	2 hours after standardized breakfast

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de la Réunion

Study record dates

Study Major Dates

• Study Start (Actual): June 19, 2023
• Primary Completion (Estimated): May 30, 2025
• Study Completion (Estimated): June 30, 2025

Study Registration Dates

• First Submitted: March 16, 2023
• First Submitted That Met QC Criteria: March 16, 2023
• First Posted (Actual): March 29, 2023

Study Record Updates

• Last Update Posted (Actual): July 10, 2023
• Last Update Submitted That Met QC Criteria: July 7, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Glucose Metabolism Disorders; Metabolic Diseases; Skin Diseases; Lipid Metabolism Disorders; Skin Diseases, Metabolic; Hyperglycemia; Lipodystrophy
• Other Study ID Numbers: 2023/CHU/03

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No