Familial Hypercholesterolemia, Genetic Disorder
Conditions
Keywords
LIPIGEN, Familial Hypercholesterelomia, Genetic Dyslipidemia
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.
Interventions
DRUGLipid-lowering treatments
Sponsors
Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Molecular or clinical diagnosis of genetic dyslipidemia * Informed consent signed
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Lipid profile of patients with genetic dyslipidemia | At baseline evaluation | 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 |
| Genetic profile of patients with genetic dyslipidemia | At baseline evaluation | 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 |
Countries
Italy
Contacts
Primary ContactManuela Casula, PhD
Outcome results
None listed