Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia

NCT ID: NCT06832371

Last Updated: 2025-02-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

72 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-09-09

Study Completion Date

2026-12-31

Brief Summary

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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).

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.

Detailed Description

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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 \>26 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

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Homozygous Familial Hypercholesterolemia (HoFH) Major Adverse Cardiovascular Events (MACE) Dyslipidemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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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.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* 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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Amryt Pharmaceuticals DAC

UNKNOWN

Sponsor Role collaborator

Clinical Trial Consulting

UNKNOWN

Sponsor Role collaborator

CMV-Stat S.r.l.

UNKNOWN

Sponsor Role collaborator

Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHRU Lille - Centre Hospitalier Universitaire de Lille

Lille, , France

Site Status RECRUITING

Centre Hospitalier Universitaire de Lyon (CHU Lyon)

Lyon, , France

Site Status RECRUITING

Hôpital La Timone - Assistance Publique Hôpitaux de Marseille (AP-HM)

Marseille, , France

Site Status RECRUITING

Hôpital La Pitié Salpêtrière - Groupe Hospitalier "La Pitié Salpêtrière - Charles Foix"

Paris, , France

Site Status RECRUITING

Strasbourg University Hospital (CHU Strasbourg)

Strasbourg, , France

Site Status RECRUITING

University General Hospital of Ioannina

Ioannina, , Greece

Site Status RECRUITING

University Hospital of Ioannina

Ioannina, , Greece

Site Status RECRUITING

METROPOLITAN HOSPITAL, Piraeus

Piraeus, , Greece

Site Status RECRUITING

Policlinico di Catanzaro - A.O.U. Mater Domini

Catanzaro, Calabria, Italy

Site Status RECRUITING

Ospedale Sant'Anna e San Sebastiano

Caserta, Campania, Italy

Site Status RECRUITING

Ospedale Monaldi - AORN dei Colli, Napoli

Napoli, Campania, Italy

Site Status RECRUITING

Policlinico Federico II di Napoli

Napoli, Campania, Italy

Site Status RECRUITING

Policlinico Sant'Orsola - Università di Bologna

Bologna, Emilia-Romagna, Italy

Site Status RECRUITING

Arcispedale Sant'Anna - Università degli Studi di Ferrara

Ferrara, Emilia-Romagna, Italy

Site Status RECRUITING

Ospedale Civile di Baggiovara - A.O.U. di Modena

Modena, Emilia-Romagna, Italy

Site Status RECRUITING

DIMI - Dipartimento di Medicina Interna, Università di Genova

Genova, GE, Italy

Site Status RECRUITING

Policlinico Umberto I - Sapienza Università di Roma

Rome, Lazio, Italy

Site Status RECRUITING

Ospedale Bassini - ASST Nord Milano

Milan, Lombardy, Italy

Site Status RECRUITING

Policlinico Paolo Giaccone - Università degli Studi di Palermo

Palermo, Sicily, Italy

Site Status RECRUITING

Ospedale San Luigi Gonzaga

Orbassano, Torino, Italy

Site Status RECRUITING

A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette

Torino, Torino, Italy

Site Status RECRUITING

CNR Gabriele Monasterio - Centro di Aferesi, Pisa

Pisa, Tuscany, Italy

Site Status RECRUITING

Policlinico di Padova - A.O.U. di Padova

Padua, Veneto, Italy

Site Status NOT_YET_RECRUITING

Ospedale Borgo Trento - A.O.U. Integrata Verona

Verona, Veneto, Italy

Site Status RECRUITING

Radboud University Medical Centre

Nijmegen, , Netherlands

Site Status RECRUITING

Rotterdam Erasmus Medical Center

Rotterdam, , Netherlands

Site Status RECRUITING

Queen Elizabeth Hospital Birmingham (QEII - Birmingham)

Birmingham, England, United Kingdom

Site Status RECRUITING

Harefield Hospital - Royal Brompton & Harefield NHS Foundation Trust

Harefield, England, United Kingdom

Site Status RECRUITING

Hammersmith Hospital - Imperial College Healthcare NHS Trust

London, England, United Kingdom

Site Status RECRUITING

Manchester University Hospital - NHS Foundation Trust

Manchester, England, United Kingdom

Site Status RECRUITING

Countries

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France Greece Italy Netherlands United Kingdom

Facility Contacts

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Cécile Yelnik, MD

Role: primary

Sybil Charriere, MD

Role: primary

Sophie Beliard, MD

Role: primary

Antonio Gallo, MD

Role: primary

Alain Pradignac, Prof.

Role: primary

+33 3 88 12 80 01

Fotis Barkas, MD

Role: primary

+30 693 6636376

Georgios Liamis, MD

Role: backup

Evangelos Liberopoulos, Prof.

Role: primary

Genovefa Kolovou, MD

Role: primary

+30 693 688656

Tiziana Montalcini, Prof.

Role: primary

+39 331 6718386

Paolo Calabrò, MD

Role: primary

+39 328 4346963

Francesco Natale, MD

Role: primary

Gabriella Iannuzzo, MD

Role: primary

+39 338 5498597

Sergio D'Addato, MD

Role: primary

+39 338 7028519

Angela Passaro, MD

Role: primary

+39 329 3721484

Francesca Carubbi, MD

Role: primary

+39 335 5455313

Fabio Nascimbeni, MD

Role: backup

Livia Pisciotta, MD

Role: primary

Marcello Arca, Professor

Role: primary

+39 333 2569355

Laura D'Erasmo, MD

Role: backup

+39 349 1588705

Alberico Catapano, Professor

Role: primary

+39 392 3885941

Fabio Pellegatta, MD

Role: backup

Maurizio Averna, Prof.

Role: primary

+39 328 0212157

Baldassarre Cefalù, Prof.

Role: backup

+39 091 6554333 / +39 347 0947

Franca Napoli, MD

Role: primary

+39 3477227363

Paolo Fornengo, MD

Role: primary

Francesco Sbrana, MD

Role: primary

+39 050 3152705

Tiziana Sampietro, MD

Role: backup

Alberto Zambon, MD

Role: primary

+39 347 6133417

Sabina Sabina, MD

Role: backup

Elena Sani, MD

Role: primary

+39 347 3054670

Joost Rutten, MD

Role: primary

+31 6 29635591

Jeanine Roeters van Lennep, MD

Role: primary

+31 652 313132

Charlotte Dawson, MD

Role: primary

+44 7751 960880

Alison Pottle, MD

Role: primary

+44 1895 828677

Jaimini Cegla, MD

Role: primary

+44 20 3313 7178

Deena Patel

Role: backup

+44 20 3313 7178

Handrean Soran, MD

Role: primary

+44 7909 692791

Other Identifiers

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LILITH

Identifier Type: -

Identifier Source: org_study_id

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