From Known to New Genes in Dyslipidemia

NCT ID: NCT03939039

Last Updated: 2019-05-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

5000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2000-01-01

Study Completion Date

2025-01-01

Brief Summary

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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

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Conditions

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Dyslipidemias

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Dyslipidemia

Genotype/phenotype correlation in patients with dyslipidemia

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Hospices Civils de Lyon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Philippe Moulin, PhD

Role: PRINCIPAL_INVESTIGATOR

Hospices Civils de Lyon

Locations

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

Bron, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Mathilde Di Filippo

Role: CONTACT

4 72 11 89 94 ext. 33

Oriane Marmontel

Role: CONTACT

4 72 12 97 08 ext. 33

Facility Contacts

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Mathilde Di Filippo

Role: primary

4 72 11 89 94 ext. 33

References

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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.

Reference Type DERIVED
PMID: 36528340 (View on PubMed)

Other Identifiers

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GENELIP

Identifier Type: -

Identifier Source: org_study_id

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