Familial HypercholesterolemiaLIPIGENNCT06362473
Lipid Transport Disorder Italian Genetic Record (LIPIGEN)
An observational study of Familial Hypercholesterolemia and Genetic Disorder, run by Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) at 1 site in Italy.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Familial Hypercholesterolemia, Genetic Disorder
- What is being tested?
- Lipid-lowering treatments
- How many people
- 10,000 participants
- Where
- 1 siteItaly
- Study dates
- 4 Aug 2015to 30 Sep 2026
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with molecular or clinical diagnosis of genetic dyslipidemia of any age or sex.
Who may be able to join
- Molecular or clinical diagnosis of genetic dyslipidemia
- Informed consent signed
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Multimedica
Sesto San Giovanni, Milano, 20099
Fabio Pellegatta, MD, 00390224209593, lipigen@sisa.it
Fabio Pellegatta, MD
About this study
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?
Read more
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
- Being tested
- Lipid-lowering treatments
- Keywords
- LIPIGEN, Familial Hypercholesterelomia, Genetic Dyslipidemia
- Medical subject headings
- Hyperlipoproteinemia Type II, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Lipid-lowering treatmentsDrug
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: At baseline evaluation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Apr 2024
- Study start4 Aug 2015
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Familial HypercholesterolemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 10,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alberico L Catapano, PhD, Study chair, Fondazione S.I.S.A.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06362473
- Sponsor's protocol ID
- LIPIGEN-001
- Acronym
- LIPIGEN
- Status last verified
- Apr 2024
- First submitted
- 2 Apr 2024
- Last updated
- 12 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 28965615
Study at a glance
From the registry record, last updated by the sponsor on 12 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Lipid Transport Disorder Italian Genetic Record (LIPIGEN)
- ClinicalTrials.gov ID
- NCT06362473
- Acronym / sponsor ID
- LIPIGEN / LIPIGEN-001
- Conditions
- Familial Hypercholesterolemia, Genetic Disorder
- Keywords
- LIPIGEN, Familial Hypercholesterelomia, Genetic Dyslipidemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)University, hospital or other
- Study start
- 4 Aug 2015 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Sep 2026 (estimated)
- First posted
- 12 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 10 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with molecular or clinical diagnosis of genetic dyslipidemia of any age or sex.
Key inclusion criteria (2 listed)
- Molecular or clinical diagnosis of genetic dyslipidemia
- Informed consent signed
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Lipid-lowering treatments | Drug | – |
Primary outcome
Lipid profile of patients with genetic dyslipidemia
Time frame: 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
Time frame: 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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Apr 2024.
- Results publication: PubMed 28965615Averna 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alberico L Catapano, PhD study chair
Fondazione S.I.S.A.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolemia and Genetic Disorder, run by Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Manuela Casula, PhD (0039 + 0250318428, manuela.casula@unimi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Lipid profile of patients with genetic dyslipidemia (time frame: At baseline evaluation). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06362473, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Apr 2024.