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

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: Familial Hypercholesterolemia; Genetic Disorder
• Intervention / Treatment: Drug: Lipid-lowering treatments

• Study Type: Observational
• Enrollment (Estimated): 10000

Contacts and Locations

• Study Contact: Name: Manuela Casula, PhD; Phone Number: 0039 + 0250318428; Email: manuela.casula@unimi.it

Study Locations

• Italy
  • Milano
    • Sesto san Giovanni, Milano, Italy, 20099
      • Recruiting
      • IRCCS MultiMedica
      • Contact: Fabio Pellegatta, MD; Phone Number: 00390224209593; Email: lipigen@sisa.it
      • Principal Investigator: Fabio Pellegatta, MD

Participation Criteria

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

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Lipid profile of patients with genetic dyslipidemia	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	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

• 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

General Publications

• Averna M, Cefalu AB, Casula M, Noto D, Arca M, Bertolini S, Calandra S, Catapano AL, Tarugi P; LIPIGEN Group. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). Atheroscler Suppl. 2017 Oct;29:11-16. doi: 10.1016/j.atherosclerosissup.2017.07.001.

Study record dates

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: LIPIGEN; Familial Hypercholesterelomia; Genetic Dyslipidemia
• Additional Relevant MeSH Terms: Metabolic Diseases; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Hyperlipidemias; Dyslipidemias; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Hypercholesterolemia; Hyperlipoproteinemia Type II; Genetic Diseases, Inborn
• 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