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Identification of a New Gene Involved in Hereditary Lipodystrophy

NCT02056912 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 2

Last updated 2015-01-14

No results posted yet for this study

Summary

Human lipodystrophies (lipoD) represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial.3, 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 A/C 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.

Conditions

  • Lipodystrophy

Interventions

GENETIC

Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene

BIOLOGICAL

Perform blood cells and fibroblasts biochemical and immuno-labeled investigations

Performed only in the two index patients enrolled in the sub-study

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Marie-Laure VUILLAUME · University Hospital, Bordeaux

Study Design

Allocation
NA
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-01-31
Primary Completion
2014-01-31
Completion
2014-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02056912 on ClinicalTrials.gov