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From Known to New Genes in Dyslipidemia (GENELIP)
The mechanism of the majority of the dyslipidemia is multifactorial at the molecular level and remains elusive in more than 50% of the patients in many clinical conditions. Next generation sequencing, a booming strategy, improves the molecular diagnosis efficiency in both monogenic and polygenic dyslipidemia.
In order to decipher the mechanisms involved in the occurrence of dyslipidemia, in addition to the exploration of known candidate genes and Single Nucleotide Polymorphisms (SNP) involved in polygenic modulation, new genes involved in the regulation of lipoprotein metabolism or associated with lipids concentrations need to be sequenced in large groups of dyslipidemic patients.
The goal of this project is to gain new insight into genotype/phenotype correlation.
| Condition or disease |
|---|
| Dyslipidemias |
| Study Type : | Observational |
| Estimated Enrollment : | 5000 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Genetical Characterization of Patients Presenting With Dyslipidemia |
| Actual Study Start Date : | January 1, 2000 |
| Estimated Primary Completion Date : | December 1, 2024 |
| Estimated Study Completion Date : | January 1, 2025 |
| Group/Cohort |
|---|
|
Dyslipidemia
Genotype/phenotype correlation in patients with dyslipidemia
|
- Genetical exploration in dyslipidemic patients [ Time Frame: 25 years ]Deoxyribonucleic Acid (DNA) sequencing will allow the study of rare gene variants and their frequency in known and new genes in patients with dyslipidemia.
Biospecimen Retention: Samples With DNA
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- patients with a family documented history of primary hypercholesterolemia, hypertriglyceridemia, hypobetalipoproteinemia, combined hypolipidemia and combined hyperlipidemia according to the European Atherosclerosis Society and/or published data.
- patients with major secondary dyslipidemia.
Exclusion Criteria:
- inability to provide written informed consent
- lack of legal representative
| Contact: Mathilde Di Filippo | 4 72 11 89 94 ext 33 | mathilde.di-filippo@chu-lyon.fr | |
| Contact: Oriane Marmontel | 4 72 12 97 08 ext 33 | oriane.marmontel@chu-lyon.fr |
| France | |
| Laboratoire de Biologie Médicale Multi Sites, Centre de Biologie et de Pathologie Est, Département de biochimie et biologie moléculaire Grand Est | Recruiting |
| Bron, France, 69495 | |
| Contact: Mathilde Di Filippo 4 72 11 89 94 ext 33 mathilde.di-filippo@chu-lyon.fr | |
| Principal Investigator: | Philippe Moulin, PhD | Hospices Civils de Lyon |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | May 3, 2019 | ||||||||
| First Posted Date | May 6, 2019 | ||||||||
| Last Update Posted Date | May 6, 2019 | ||||||||
| Actual Study Start Date | January 1, 2000 | ||||||||
| Estimated Primary Completion Date | December 1, 2024 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
Genetical exploration in dyslipidemic patients [ Time Frame: 25 years ] Deoxyribonucleic Acid (DNA) sequencing will allow the study of rare gene variants and their frequency in known and new genes in patients with dyslipidemia.
|
||||||||
| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | No Changes Posted | ||||||||
| Current Secondary Outcome Measures | Not Provided | ||||||||
| Original Secondary Outcome Measures | Not Provided | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | From Known to New Genes in Dyslipidemia | ||||||||
| Official Title | Genetical Characterization of Patients Presenting With Dyslipidemia | ||||||||
| Brief Summary |
The mechanism of the majority of the dyslipidemia is multifactorial at the molecular level and remains elusive in more than 50% of the patients in many clinical conditions. Next generation sequencing, a booming strategy, improves the molecular diagnosis efficiency in both monogenic and polygenic dyslipidemia. In order to decipher the mechanisms involved in the occurrence of dyslipidemia, in addition to the exploration of known candidate genes and Single Nucleotide Polymorphisms (SNP) involved in polygenic modulation, new genes involved in the regulation of lipoprotein metabolism or associated with lipids concentrations need to be sequenced in large groups of dyslipidemic patients. The goal of this project is to gain new insight into genotype/phenotype correlation. |
||||||||
| Detailed Description | Not Provided | ||||||||
| Study Type | Observational | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
||||||||
| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description:
Deoxyribonucleic Acid (DNA) of patients will sequenced using Sanger and Illumina Next-Generation Sequencing (NGS) methodology combined with PapilLyon, the pipeline developed by the Hospices Civils de Lyon (HCL) bioinformatics team, which allows more than 350 genes potentially involved in plasma lipoprotein metabolism to be explored.
|
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Male or female patients with dyslipidemia | ||||||||
| Condition | Dyslipidemias | ||||||||
| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | Dyslipidemia
Genotype/phenotype correlation in patients with dyslipidemia
|
||||||||
| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|||||||||
| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
5000 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | January 1, 2025 | ||||||||
| Estimated Primary Completion Date | December 1, 2024 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
|
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| Sex/Gender |
|
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| Ages | Child, Adult, Older Adult | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts |
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| Listed Location Countries | France | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT03939039 | ||||||||
| Other Study ID Numbers | GENELIP | ||||||||
| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement | Not Provided | ||||||||
| Responsible Party | Hospices Civils de Lyon | ||||||||
| Study Sponsor | Hospices Civils de Lyon | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators |
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| PRS Account | Hospices Civils de Lyon | ||||||||
| Verification Date | May 2019 | ||||||||
