Homozygous Familial Hypercholesterolemia (HoFH)LILITHNCT06832371
Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia
An observational study of Homozygous Familial Hypercholesterolemia (HoFH) and Major Adverse Cardiovascular Events (MACE), run by Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) at 30 sites in 5 countries.
Trial summary
This observational, multicenter, retrospective and prospective study aims to evaluate the effect of lomitapide treatment on Major Adverse Cardiovascular Events (MACE) in patients with Homozygous Familial Hypercholesterolemia (HoFH). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia (HoFH), Major Adverse Cardiovascular Events (MACE), Dyslipidemia
- How many people
- 73 participants
- Where
- 30 sitesin 5 countries
- Study dates
- 9 Sep 2024to Dec 2026
- Phase
- Observational
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with a clinical or genetic diagnosis of homozygous familial hypercholesterolemia (HoFH) who have been treated with lomitapide for at least 12 months.
Who may be able to join
- Adult patients (age ≥18 years)
- Clinical or genetic diagnosis of HoFH
- Treated with lomitapide at any dosage
- On treatment with lomitapide for at least 12 months at the time of enrollment
- Availability of 3 years of medical records prior to lomitapide treatment to confirm MACE
- Giving written informed consent
Who cannot join
- Patients who were prescribed lomitapide outside of the marketing authorization or in contraindicated patients
- Patients receiving lomitapide in clinical trials
- Patients receiving an investigational agent, defined as any drug or biologic agent other than lomitapide that has not received Market Authorization in the country of participation, at the time of enrolment
Trial locations and contacts
30 sites in 5 countries.
30 sites in 5 countries
Italy17 sites
Ospedale regionale generale "F. Miulli"
Bari
Policlinico Sant'Orsola - Università di Bologna
Bologna, Emilia-Romagna, 40138
Ospedale Sant'Anna e San Sebastiano
Caserta, Campania, 81100
ARNAS Garibaldi
Catania, Italy
Policlinico di Catanzaro - A.O.U. Mater Domini
Catanzaro, Calabria, 88100
Arcispedale Sant'Anna - Università degli Studi di Ferrara
Ferrara, Emilia-Romagna, 44124
DIMI - Dipartimento di Medicina Interna, Università di Genova
Genova, GE, 16132
Ospedale Bassini - ASST Nord Milano
Milan, Lombardy, 20092
Ospedale Civile di Baggiovara - A.O.U. di Modena
Modena, Emilia-Romagna, 41124
Policlinico Federico II di Napoli
Naples, Campania, 80131
Ospedale San Luigi Gonzaga
Orbassano, Torino, 10043
Policlinico di Padova - A.O.U. di Padova
Padova, Veneto, 35128
Policlinico Paolo Giaccone - Università degli Studi di Palermo
Palermo, Sicily, 90127
CNR Gabriele Monasterio - Centro di Aferesi, Pisa
Pisa, Tuscany, 56124
Policlinico Umberto I - Sapienza Università di Roma
Rome, Lazio, 00161
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Torino, Torino, 10126
Ospedale Borgo Trento - A.O.U. Integrata Verona
Verona, Veneto, 37126
France5 sites
CHRU Lille - Centre Hospitalier Universitaire de Lille
Lille
Centre Hospitalier Universitaire de Lyon (CHU Lyon)
Lyon
Hôpital de la Conception - Assistance Publique Hôpitaux de Marseille (AP-HM)
Marseille
Hôpital La Pitié Salpêtrière - Groupe Hospitalier "La Pitié Salpêtrière - Charles Foix"
Paris
Strasbourg University Hospital (CHU Strasbourg)
Strasbourg
United Kingdom4 sites
Queen Elizabeth Hospital Birmingham (QEII - Birmingham)
Birmingham, England
Harefield Hospital - Royal Brompton & Harefield NHS Foundation Trust
Harefield, England
Hammersmith Hospital - Imperial College Healthcare NHS Trust
London, England, W12 0HS
Manchester University Hospital - NHS Foundation Trust
Manchester, England
Greece2 sites
University General Hospital of Ioannina
Ioannina
METROPOLITAN HOSPITAL, Piraeus
Piraeus
Netherlands2 sites
Radboud University Medical Centre
Nijmegen
Rotterdam Erasmus Medical Center
Rotterdam
About this study
Official title: Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia: A Multicenter, Retrospective and Prospective Observational Study
This observational, multicenter, retrospective and prospective study aims to evaluate the effect of lomitapide treatment on Major Adverse Cardiovascular Events (MACE) in patients with Homozygous Familial Hypercholesterolemia (HoFH).
HoFH is a rare genetic disorder characterized by extremely high levels of LDL cholesterol (LDL-C), leading to an increased risk of early cardiovascular diseases. Lomitapide is an approved medication that lowers LDL-C levels by inhibiting microsomal triglyceride transfer protein (MTP).
Read more
The study will collect data from patients who have been treated with lomitapide for at least 12 months and will compare the incidence of MACE during the first three years of treatment with the three years before treatment initiation. The study includes data collection from multiple lipid centers across Europe.
The primary objective is to assess the impact of lomitapide on MACE, while secondary objectives include evaluating changes in lipid profiles, liver function tests, and lipid-lowering treatments.
Read the detailed description
This is a multicenter, international, long-term observational study investigating the real-world impact of lomitapide on Major Adverse Cardiovascular Events (MACE) in patients with Homozygous Familial Hypercholesterolemia (HoFH).
Study Design:
Observational, open-label, retrospective and prospective study Data will be collected from 30 lipid centers across Europe Patients will serve as their own control, with comparisons between pre-treatment (3 years before lomitapide) and post-treatment (first 3 years of lomitapide therapy) periods
Study Population:
Approximately 72 adult patients (≥18 years) diagnosed with HoFH Patients must have received lomitapide for at least 12 months Availability of 3 years of pre-treatment clinical records
Objectives:
Primary Objective: Evaluate the incidence of MACE before and after lomitapide treatment
Secondary Objectives: Assess changes in LDL-C, total cholesterol, liver function tests (ALT, AST, GGT), and lipid-lowering therapy usage (e.g., discontinuation of LDL apheresis, addition of PCSK9 inhibitors)
Endpoints:
Primary Endpoint: Change in MACE incidence over the 3-year treatment period
Secondary Endpoints: Changes in lipid levels, liver safety markers, and adherence to treatment protocols
Safety Considerations:
The study follows real-world clinical practice, with monitoring of adverse events, including liver-related safety concerns associated with lomitapide
Data will be collected in an electronic Case Report Form (eCRF) and analyzed following Good Clinical Practice (GCP) guidelines
This study aims to generate real-world evidence on the cardiovascular impact of lomitapide in HoFH patients, addressing an unmet clinical need for data on long-term outcomes.
- Conditions
- Homozygous Familial Hypercholesterolemia (HoFH), Major Adverse Cardiovascular Events (MACE), Dyslipidemia
- Keywords
- Lomitapide, Hypercholesterolemia, Cardiovascular Disease, LDL Cholesterol, Lipid-Lowering Therapy, Lipid Metabolism Disorders, Atherosclerosis, Rare Genetic Disorders
- Medical subject headings
- Homozygous Familial Hypercholesterolemia, Dyslipidemias, Hypercholesterolemia, Cardiovascular Diseases, Lipid Metabolism Disorders, Atherosclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| HoFH Patients Treated with Lomitapide | This cohort consists of adult patients (≥18 years) diagnosed with Homozygous Familial Hypercholesterolemia (HoFH) who have been treated with lomitapide for at least 12 months. The study will retrospectively analyze the incidence of Major Adverse Cardiovascular Events (MACE) in the three years before lomitapide treatment, and prospectively track MACE incidence during the first three years of lomitapide therapy. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of Major Adverse Cardiovascular Events (MACE) Before and After Lomitapide Treatment
This measure will assess the incidence of MACE (including myocardial infarction, stroke, cardiovascular death, and hospitalization due to unstable angina) during the first three years of lomitapide treatment compared to the three years prior to treatment initiation.
Unit of Measure: Number of events per 100 patient-years.
Measured: 3 years before treatment vs. 3 years during treatment
Secondary outcomes (8)
Change in LDL-Cholesterol Levels
This measure will evaluate changes in LDL-C levels. Unit of Measure: mg/dL.
Measured: Baseline, 1 year, 2 years, 3 years
Change in Total Cholesterol, Triglycerides, and HDL-Cholesterol
Assess changes in total cholesterol, triglycerides, and HDL-C at 1, 2, and 3 years after lomitapide treatment initiation.
Unit of Measure: mg/dL.
Measured: Baseline, 1 year, 2 years, 3 years
Change in Triglyceride Levels
This measure will evaluate changes in triglyceride levels. Unit of Measure: mg/dL.
Measured: Baseline, 1 year, 2 years, 3 years.
Change in HDL-Cholesterol Levels
This measure will evaluate changes in HDL-C levels. Unit of Measure: mg/dL.
Measured: Baseline, 1 year, 2 years, 3 years
Liver Safety Profile - ALT Levels
This measure will evaluate changes in alanine aminotransferase (ALT) levels. Unit of Measure: U/L.
Measured: Baseline, 1 year, 2 years, 3 years.
Liver Safety Profile - AST Levels
This measure will evaluate changes in aspartate aminotransferase (AST) levels. Unit of Measure: U/L.
Measured: Baseline, 1 year, 2 years, 3 years.
Liver Safety Profile - GGT Levels
This measure will evaluate changes in gamma-glutamyl transferase (GGT) levels. Unit of Measure: U/L.
Measured: Baseline, 1 year, 2 years, 3 years.
Lipid-Lowering Therapy Modifications
This measure will track changes in lipid-lowering therapies, for example the discontinuation of LDL apheresis or the introduction of evinacumab, as described in the study protocol.
Unit of Measure: Number of patients with therapy modifications.
Measured: Baseline, 1 year, 2 years, 3 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2025
- Study start9 Sep 2024
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Homozygous Familial Hypercholesterolemia (HoFH)Studies 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
- Other
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
- Sponsor type
- University, hospital or other
- Collaborators
- Amryt Pharmaceuticals DAC, Clinical Trial Consulting, CMV-Stat S.r.l.
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06832371
- Sponsor's protocol ID
- LILITH
- Acronym
- LILITH
- Status last verified
- Feb 2026
- First submitted
- 10 Feb 2025
- Last updated
- 20 Feb 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The LILITH study collects observational data on patients treated with lomitapide in compliance with data protection regulations (GDPR) and Good Clinical Practice (GCP) guidelines. At this time, individual participant data (IPD) sharing is not planned to ensure confidentiality and adherence to ethical and legal requirements. However, aggregated study results will be made available through scientific publications and regulatory reports.