Lipid Transport Disorder Italian Genetic Record (LIPIGEN)

NCT06362473 | Recruiting

• 1 other identifier: LIPIGEN-001
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Familial Hypercholesterolemia; Genetic Disorder

Keywords

LIPIGEN; Familial Hypercholesterelomia; Genetic Dyslipidemia

Outcome Measures

Primary Outcomes (2)

• 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

Interventions

Lipid-lowering treatments DRUG

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi): lead

Study Sites (1)

IRCCS Multimedica

Sesto San Giovanni, Milano, 20099, Italy

RECRUITING

Related 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.atherosclerosissup.2017.07.001.

  PMID: 28965615 RESULT

MeSH Terms

Conditions

Hyperlipoproteinemia Type II; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Alberico L Catapano, PhD

  Fondazione S.I.S.A.

  STUDY CHAIR

Central Study Contacts

Manuela Casula, PhD

CONTACT

0039 + 0250318428; manuela.casula@unimi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 2, 2024
• First Posted: April 12, 2024
• Study Start: August 4, 2015
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): September 30, 2026
• Last Updated: April 12, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)