From Known to New Genes in Dyslipidemia

NCT03939039 | Unknown

• 1 other identifier: GENELIP
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Dyslipidemias

Outcome Measures

Primary Outcomes (1)

• Genetical exploration in dyslipidemic patients

  Deoxyribonucleic Acid (DNA) sequencing will allow the study of rare gene variants and their frequency in known and new genes in patients with dyslipidemia.

  25 years

Study Arms (1)

Dyslipidemia

Genotype/phenotype correlation in patients with dyslipidemia

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Male or female patients with dyslipidemia

You may qualify if:

• 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.

You may not qualify if:

• inability to provide written informed consent
• lack of legal representative

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Laboratoire de Biologie Médicale Multi Sites, Centre de Biologie et de Pathologie Est, Département de biochimie et biologie moléculaire Grand Est

Bron, 69495, France

RECRUITING

Related Publications (1)

• Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charriere S, Cornelis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15.

  PMID: 36528340 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

Dyslipidemias

Condition Hierarchy (Ancestors)

Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Philippe Moulin, PhD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mathilde Di Filippo

CONTACT

4 72 11 89 94; mathilde.di-filippo@chu-lyon.fr

Oriane Marmontel

CONTACT

4 72 12 97 08; oriane.marmontel@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 3, 2019
• First Posted: May 6, 2019
• Study Start: January 1, 2000
• Primary Completion: December 1, 2024
• Study Completion: January 1, 2025
• Last Updated: May 6, 2019

Record last verified: 2019-05

Locations

FR (1)