Lipid Transport Disorder Italian Genetic Record (LIPIGEN)

Familial Hypercholesterolemia Clinical Trial

— LIPIGEN  

Official title:

Lipid Transport Disorder Italian Genetic Record (LIPIGEN)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06362473
• Other study ID #: LIPIGEN-001
• Status: Recruiting
• Start date: August 4, 2015
• Est. completion date: September 30, 2026

Study information

• Verified date: April 2024
• Source: Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
• Contact: Manuela Casula, PhD
• Phone: 0039 + 0250318428
• Email: manuela.casula[@]unimi.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: September 30, 2026
• Est. primary completion date: September 30, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Molecular or clinical diagnosis of genetic dyslipidemia

• Informed consent signed

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Genetic Diseases, Inborn
• Genetic Disorder
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Drug:
• Lipid-lowering treatments

Locations

Country	Name	City	State
Italy	IRCCS Multimedica	Sesto san Giovanni	Milano

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)

Country where clinical trial is conducted

Italy, 

References & Publications (1)

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.athero — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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