Clinical trial NCT06362473: Lipid Transport Disorder Italian Genetic Record (LIPIGEN)
Official title: Lipid Transport Disorder Italian Genetic Record (LIPIGEN)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Familial Hypercholesterolemia
Genetic Disorder
Keywords: LIPIGEN
Familial Hypercholesterelomia
Genetic Dyslipidemia
Lead sponsor: Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Sponsor class: OTHER
First posted: 2024-04-12
Enrollment: 10000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects with molecular or clinical diagnosis of genetic dyslipidemia of any age or sex.

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\&#39; lives through more precise diagnosis and personalised treatments.


Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* None

Primary outcomes:
measure: Lipid profile of patients with genetic dyslipidemia
timeFrame: At baseline evaluation
measure: Genetic profile of patients with genetic dyslipidemia
timeFrame: At baseline evaluation
Secondary outcomes:
Other outcomes:
Locations:
city: Sesto san Giovanni
country: Italy
facility: IRCCS Multimedica
state: Milano
Study officials:
affiliation: Fondazione S.I.S.A.
name: Alberico L Catapano, PhD
role: STUDY_CHAIR
References:
citation: 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.