An interventional study of Subcutaneous adipose tissue biopsy and Blood sampling in Type 2 Diabetes, sponsored by Assistance Publique Hopitaux De Marseille. Not yet recruiting at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-09-19.
Sponsored by Assistance Publique Hopitaux De Marseille · Not applicable, Interventional, and Other
Cohort studies have shown that patients with obesity associated with metabolic abnormalities (metabolically unhealthy obesity) have an accumulation of ectopic fat deposits (EDF) linked to subcutaneous adipose tissue dysfunction. Although it is accepted that the storage capacity of subcutaneous adipose tissue is genetically determined, the genetic factors predisposing to adipose tissue distribution abnormalities remain poorly understood.
The Angiosafe T2D cohort consists of 7200 highly phenotyped type 2 diabetes (T2D) patients. In 297 patients from this cohort (ancillary study), investigators assessed epicardial fat volume (EFV) using an artificial intelligence algorithm. In 42 of these patients, designated as early T2DM/DGE, an accumulation of epicardial fat and diabetes occurring before the age of 40 were observed, clinically approaching the clinical presentation of genetic lipodystrophy, although subcutaneous adipose tissue persisted in their case.
This study will focus on a case-control study nested within the pre-existing cohort of T2D patients (Angiosafe T2D), and more specifically within this cohort on a subgroup of 42 patients with early-onset diabetes and an abnormal distribution of adipose tissue caracterized by ectopic fat accumulation. In order to understand the severe metabolic phenotype observed in this group of 42 patients, investigators propose to perform a multiomic analysis combining clinico-biological, exomic, transcriptomic and lipidomic data.
This study will compare the rate of patients with at least one rare (\<1% general population) potentially pathogenic genetic variant in a coding region of the genetic lipodystrophy genes by whole exome sequencing in 42 early-onset T2DM and a high epicardial fat volume patients versus 42 patients without early-onset T2DM and/or high epicardial fat volume (control group).
79 studies on the registry are indexed under Cardiac Complexes, Premature; 13 are open to participants now.
This study's planned enrollment of 84 is close to the median of 86 across 40 interventional studies indexed under Cardiac Complexes, Premature.
Browse Cardiac Complexes, Premature studies →Assistance Publique Hopitaux De Marseille is the lead sponsor of 686 studies on the registry; 148 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Inclusion Criteria for T2D/DGE patient:
Inclusion Criteria for control patient:
Exclusion Criteria:
Diagnostic age of diabètes mellitus less than or equal to 40 years and epicardial fat volume greater than 72 mL.
Procedure: Subcutaneous adipose tissue biopsy · Other: Blood sampling
Age at diagnosis of diabetes greater than 40 and/or epicardial fat volume less than 72 mL.
Procedure: Subcutaneous adipose tissue biopsy · Other: Blood sampling
Under local anesthesia, subcutaneous adipose tissue will be collected from 2 puncture points in the umbilical region for a total volume of 2 mL.
One 4 mL tube of blood will be collected
Frequency of variants genes
Higher frequency of rare heterozygous missense variants of lipodystrophy genes, or the presence of variants more often classified as pathogenic or of unknown significance (according to the ACMG classification) in the target group compared with the control group. A variant is considered rare if its frequency in GnomAD is \< 1%.
Time frame: Day 1
Plasma and adipocyte lipidic profil determined by mass spectrometry
Identification of plasma and adipocyte lipid species whose expression is significantly altered in patients according to their phenotype and genotype (T2D/DGE versus controls)
Time frame: Day 1
Integrative multiomic analysis including clinical, biological, exomic, transcriptomic and lipidomic data.
identification of a multiomic signature that would differentiate the 2 groups: Early T2D/DGE and controls.
Time frame: Day 1
Gene expression profil in subcutaneous adipose tissue determined by mRNA sequencing
identification of genes whose expression is significantly altered in patients according to their phenotype and genotype (comparison of early T2D/DGE versus controls) in subcutaneous adipose tissue
Time frame: Day 1
This study is not yet recruiting, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Assistance Publique Hopitaux De Marseille