Main
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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
Register:
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ClinicalTrials.gov |
Last refreshed on:
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19 February 2015 |
Main ID: |
NCT02056912 |
Date of registration:
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24/01/2014 |
Prospective Registration:
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No |
Primary sponsor: |
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Public title:
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Identification of a New Gene Involved in Hereditary Lipodystrophy
LIPOGENE |
Scientific title:
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Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE |
Date of first enrolment:
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January 2014 |
Target sample size:
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2 |
Recruitment status: |
Completed |
URL:
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http://clinicaltrials.gov/show/NCT02056912 |
Study type:
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Interventional |
Study design:
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Intervention Model: Single Group Assignment, Masking: Open Label
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Phase:
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N/A
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Countries of recruitment
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France
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Contacts
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Name:
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Marie-Laure VUILLAUME |
Address:
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Telephone:
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Email:
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Affiliation:
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University Hospital, Bordeaux |
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Key inclusion & exclusion criteria
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Inclusion Criteria:
Study :
- Patients affected by lipoD
- No identified genetic cause of lipoD
- Child or adult
- DNA already available in the French reference laboratory for the genetic diagnosis of
lipoD (laboratoire de Biochimie du CHU Saint-Antoine, Paris) or in the INSERM UMRS
938 laboratory, Faculté de médecine Pierre et Marie Curie Site Saint-Antoine, Paris
- Subject affiliated to the french Sécurité Sociale
- Signed consent obtained for the molecular diagnosis of lipoD.
Sub-study:
- Signed consent obtained for this sub-study from both index patients
Exclusion Criteria:
Study:
- Identified genetic cause of lipoD
- No signed consent by the patient
- Subject not affiliated to the french Sécurité Sociale.
Sub-study:
- Absence of signed consent obtained for this sub-study from both index patients
Age minimum:
18 Years
Age maximum:
N/A
Gender:
Both
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Health Condition(s) or Problem(s) studied
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Lipodystrophy
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Intervention(s)
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Biological: Perform blood cells and fibroblasts biochemical and immuno-labeled investigations
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Genetic: Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene
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Primary Outcome(s)
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Altered lipids composition in blood red cells membranes
[Time Frame: 6 months]
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Quantitative or qualitative variation of the protein encoded by the candidate gene in fibroblasts
[Time Frame: 6 months]
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Additional mutation in the studied candidate gene XX
[Time Frame: 6 months]
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Phospholipids anomalies in plasma
[Time Frame: 6 months]
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Dense deposits in fibroblasts cytoplasm
[Time Frame: 6 months]
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Secondary ID(s)
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CHUBX 2013/13
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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Results
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Results available:
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Date Posted:
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Date Completed:
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URL:
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