Ignite Creation Date:
2024-05-06 @ 2:29 AM
Last Modification Date:
2024-10-26 @ 11:19 AM
Study NCT ID:
NCT02056912
Status:
COMPLETED
Last Update Posted:
2015-01-14
First Post:
2014-01-24
Brief Title:
Identification of a New Gene Involved in Hereditary Lipodystrophy
Sponsor:
University Hospital Bordeaux
Organization:
University Hospital Bordeaux
Study Overview
Official Title:
Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE
Status:
COMPLETED
Status Verified Date:
2015-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
LIPOGENE
Brief Summary:
Human lipodystrophies lipoD represent a heterogeneous group of diseases characterized by generalized or partial fat loss with fat hypertrophy in other depots when partial3 4 Insulin resistance dyslipidemia and diabetes are generally associated leading to early complications Acquired lipoD can be generalized resembling congenital forms or partial as the Barraquer-Simons syndrome with loss of fat in the upper part of the body contrasting with accumulation in the lower part The most common forms of lipoD are iatrogenic In human immunodeficiency virus-infected patients some first-generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations Genetic forms are very uncommon recessive generalized congenital lipoD result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2 AGPAT2 Dominant partial familial lipoD result from mutations in genes encoding the nuclear protein lamin AC or the adipose transcription factor PPARgamma Importantly LMNA mutations are also responsible for metabolic laminopathies resembling the metabolic syndrome and progeria a syndrome of premature aging Molecular genetic bases of many rare forms of genetic lipoD remain to be elucidated
Detailed Description:
The investigators have recently evaluated two sisters index patients affected by a syndrome associating diffuse leukoencephalopathy and partial lipoD The investigators have analyzed numerous known genetic causes of leukodystrophies and lipoD but the investigators failed to identify a known cause for this syndrome which has never been previously reported The investigators then switched their effort to analyses of exome using next generation sequencing in both affected sisters and their unaffected relatives one sister and two parents The investigators identified an excellent candidate gene with a homozygous missense mutation in both affected sisters The investigators now aim to prove the involvement of this candidate gene in lipoDs determinism by a search of additional mutations in the candidate gene in a series of patients affected with lipoD collaboration with Pr Capeaus Team LIPOGENE study and by functional analyses performed in the two index patients on blood and skin samples LIPOGENE sub-study
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None