Lipid Transport Disorder Italian Genetic Record (LIPIGEN) (LIPIGEN)

April 8, 2024 updated by: Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)

LIPIGEN is an observational study involving Italian physicians and researchers in the field of diseases related to blood lipid levels. This study aims to improve the diagnosis and treatment of people with familial dyslipidaemias, including very common conditions such as familial hypercholesterolaemia (FH) and less common ones such as familial chylomicronidaemic syndrome (FCS).

What does the study do?

It collects information on Italian patients with Familial Hypercholesterolaemia (FH), following them in their normal clinical examination without adding extra procedures.

It uses the data collected to further our understanding of diseases such as familial hypercholesterolaemia, examining how it is diagnosed clinically and by genetic testing, and evaluating the effectiveness of different treatments.

It seeks to identify the genetic mutations that cause familial hypercholesterolaemia and other dyslipidaemias, helping to choose the most effective treatments.

It evaluates the impact of long-term treatments and patient adherence to medication, as well as monitoring the incidence of cardiovascular events and other important outcomes.

Who can participate?

The study is aimed at people of all ages, from children to adults, with familial hypercholesterolaemia or other genetic dyslipidaemia.

More than 50 centres throughout Italy are involved, making the study accessible to many.

What does participation entail?

Participants will continue with their normal clinical practice.

Data such as family history, personal clinical findings and genetic information will be collected, without additional procedures.

For some, further evaluations, such as ultrasounds, may be required to better study their condition.

The LIPIGEN study not only helps to better understand diseases related to high cholesterol but also aims to improve patients' lives through more precise diagnosis and personalised treatments.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
    • Milano
      • Sesto san Giovanni, Milano, Italy, 20099
        • Recruiting
        • IRCCS MultiMedica
        • Contact:
        • Principal Investigator:
          • Fabio Pellegatta, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Subjects with molecular or clinical diagnosis of genetic dyslipidemia of any age or sex.

Description

Inclusion Criteria:

  • Molecular or clinical diagnosis of genetic dyslipidemia
  • Informed consent signed

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Lipid profile of patients with genetic dyslipidemia
Time Frame: At baseline evaluation

Lipid profile of patients with molecular or clinical diagnosis of genetic dyslipidemia:

  • LDL cholesterol (mg/dL)
  • Total cholesterol (mg/dL)
  • HDL cholesterol (mg/dL)
  • Triglycerides (mg/dL)
  • Lipoprotein (a) (mg/dL), if available
At baseline evaluation
Genetic profile of patients with genetic dyslipidemia
Time Frame: At baseline evaluation

Genetic profile of patients with molecular or clinical diagnosis of genetic dyslipidemia:

  • Prevalance (%) of patients with pathogenic/likely pathogenic variants on candidate genes
  • Prevalance (%) of patients with variants of uncertain significance (VUS) on candidate genes
  • Distribution (%) of more common variants
At baseline evaluation

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)

Investigators

  • Study Chair: Alberico L Catapano, PhD, Fondazione S.I.S.A.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 4, 2015

Primary Completion (Estimated)

September 30, 2026

Study Completion (Estimated)

September 30, 2026

Study Registration Dates

First Submitted

April 2, 2024

First Submitted That Met QC Criteria

April 8, 2024

First Posted (Actual)

April 12, 2024

Study Record Updates

Last Update Posted (Actual)

April 12, 2024

Last Update Submitted That Met QC Criteria

April 8, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • LIPIGEN-001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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