LipodystrophyLIPOGENENCT02056912
Identification of a New Gene Involved in Hereditary Lipodystrophy
A study testing Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene and Perform blood cells and fibroblasts biochemical and immuno-labeled investigations in people with Lipodystrophy, run by University Hospital, Bordeaux at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Lipodystrophy
- What is being tested?
- Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene and Perform blood cells and fibroblasts biochemical and immuno-labeled investigations
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2014to Jan 2014
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Show all 9Show fewer
- Signed consent obtained for the molecular diagnosis of lipoD.
- Sub-study:
- Signed consent obtained for this sub-study from both index patients
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE
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.
Read the 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 lipoD's determinism by a search of additional mutations in the candidate gene in a series of patients affected with lipoD (collaboration with Pr Capeau's Team) (LIPOGENE study) and by functional analyses performed in the two index patients on blood and skin samples (LIPOGENE sub-study).
- Conditions
- Lipodystrophy
- Being tested
- Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene, Perform blood cells and fibroblasts biochemical and immuno-labeled investigations
- Keywords
- lipodystrophy, gene, inborn error of metabolism
- Medical subject headings
- Lipodystrophy, Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate geneGenetic
Perform blood cells and fibroblasts biochemical and immuno-labeled investigationsBiological
Performed only in the two index patients enrolled in the sub-study
| Study group | Role | What they receive |
|---|---|---|
| Lipodystrophie Héréditaire | Other | Not described Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Additional mutation in the studied candidate gene XX
Study's primary outcome
Measured: 6 months
Altered lipids composition in blood red cells membranes
Sub-study's primary outcome
Measured: 6 months
Quantitative or qualitative variation of the protein encoded by the candidate gene in fibroblasts
Sub-study's primary outcome
Measured: 6 months
Dense deposits in fibroblasts cytoplasm
Sub-study's primary outcome
Measured: 6 months
Phospholipids anomalies in plasma
Sub-study's primary outcome
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2014 (estimated)
- Study startJan 2014
- Primary completionJan 2014
- Study completionJan 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LipodystrophyStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marie-Laure VUILLAUME, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02056912
- Sponsor's protocol ID
- CHUBX 2013/13
- Other IDs
- 2013-004312-22
- Acronym
- LIPOGENE
- Status last verified
- Jan 2015
- First submitted
- 24 Jan 2014
- Last updated
- 1 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE
- ClinicalTrials.gov ID
- NCT02056912
- Acronym / sponsor ID
- LIPOGENE / CHUBX 2013/13
- Conditions
- Lipodystrophy
- Keywords
- lipodystrophy, gene, inborn error of metabolism
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 2 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- Jan 2014
- Primary completion
- Jan 2014 (actual)
- Study completion
- Jan 2014 (actual)
- First posted
- 6 Feb 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 lipoD's determinism by a search of additional mutations in the candidate gene in a series of patients affected with lipoD (collaboration with Pr Capeau's Team) (LIPOGENE study) and by functional analyses performed in the two index patients on blood and skin samples (LIPOGENE sub-study).
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Lipodystrophie Héréditaire | Other | 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (9 listed)
- 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
Key exclusion criteria (6 listed)
- Identified genetic cause of lipoD
- No signed consent by the patient
- Subject not affiliated to the french Sécurité Sociale.
- Absence of signed consent obtained for this sub-study from both index patients
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene | Genetic | Lipodystrophie Héréditaire |
| Perform blood cells and fibroblasts biochemical and immuno-labeled investigationsPerformed only in the two index patients enrolled in the sub-study | Biological | Lipodystrophie Héréditaire |
Primary outcome
Additional mutation in the studied candidate gene XX
Time frame: 6 months
Study's primary outcome
Altered lipids composition in blood red cells membranes
Time frame: 6 months
Sub-study's primary outcome
Quantitative or qualitative variation of the protein encoded by the candidate gene in fibroblasts
Time frame: 6 months
Sub-study's primary outcome
Dense deposits in fibroblasts cytoplasm
Time frame: 6 months
Sub-study's primary outcome
Phospholipids anomalies in plasma
Time frame: 6 months
Sub-study's primary outcome
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jun 2026.
Related trials for Lipodystrophy
Not yet recruitingPhase 2
Effects of Meal Macronutrients on Postprandial Lipids
Nephrotic Syndrome, Lipodystrophy
RecruitingObservational study
Metabolic Phenotyping in vEDS
Vascular Ehlers-Danlos Syndrome, Vascular Ehlers Danlos Syndrome
Active, not recruitingPhase 3
Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy
Lipodystrophy, Diabetes
Active, not recruitingPhase 2
Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy
Diabetes, Lipodystrophy
RecruitingPhase 3
Efficacy and Safety of Mibavademab in Adult and Pediatric Patients With Generalized Lipodystrophy
Generalized Lipodystrophy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marie-Laure VUILLAUME principal investigator
University Hospital, Bordeaux
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Amplification by PCR and direct sequencing on the entire coding sequence and intron-exons boundaries of the candidate gene and Perform blood cells and fibroblasts biochemical and immuno-labeled investigations in people with Lipodystrophy, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Additional mutation in the studied candidate gene XX (time frame: 6 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Jun 2026.