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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Standardized breakfast to replace in fine oral induced hyperglycemia test | Experimental | Standardized breakfast to replace in fine oral induced hyperglycemia test |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Standardized breakfast | Diagnostic Test | Standardized breakfast to replace in fine oral induced hyperglycemia test |
|
| 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 |
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Inclusion Criteria:
Aged 18 to 75 Having given their informed consent.
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Universitaire de La Réunion | Recruiting | Saint-Denis | 97400 | Reunion |
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| ID | Term |
|---|---|
| D008060 | Lipodystrophy |
| ID | Term |
|---|---|
| D012875 | Skin Diseases, Metabolic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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