Lipid Transport Disorder Italian Genetic Record (LIPIGEN)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Lipid-lowering treatments.
- Who it may be relevant to
- Registry conditions: Familial Hypercholesterolemia, Genetic Disorder. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Drug Lipid-lowering treatments
Primary outcome measures
- Lipid profile of patients with genetic dyslipidemia [Time frame: At baseline evaluation]
- Genetic profile of patients with genetic dyslipidemia [Time frame: At baseline evaluation]
Eligibility criteria
Inclusion criteria
- Molecular or clinical diagnosis of genetic dyslipidemia
- Informed consent signed
Exclusion criteria
- None
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- IRCCS Multimedica — Sesto San Giovanni
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. PMID 28965615
Identifiers
NCT: NCT06362473 · LIPIGEN-001