CompletedObservational

Studying how lomitapide treatment affects the risk of serious heart problems in people with a rare inherited high cholesterol condition

This study is investigating how a drug called lomitapide impacts the risk of serious heart problems in adults who have a rare inherited condition called Homozygous familial hypercholesterolemia (HoFH). HoFH causes extremely high cholesterol and greatly increases the risk of heart disease. Lomitapide is known to reduce cholesterol effectively in these patients. This study will look at existing patient information and then follow these patients for up to three years. Researchers will compare their heart health before starting lomitapide with their heart health while on the medication to better understand its long-term benefits.

At a glance

Status

Completed

Sponsor

Fondazione S.I.S.A.

Enrolment target

Start

09 Sep 2024

Estimated completion

30 Nov 2025

MACE in patients with familial hypercholesterolemia

What is this study about?

This study is about a very rare condition called Homozygous familial hypercholesterolemia, often shortened to HoFH. People with HoFH have extremely high levels of 'bad' cholesterol (LDL-C) from a very young age, which dramatically increases their risk of serious heart problems. There's a medication called lomitapide that is very good at lowering this high cholesterol in HoFH patients.

Doctors know lomitapide helps reduce cholesterol, but they need to learn more about how it affects the actual risk of serious heart problems over time. Because HoFH is so rare, it's very difficult to do traditional studies with large groups of people. So, this study will look at existing health records of HoFH patients who have been taking lomitapide and then continue to follow them for at least three years. They will compare how often these patients experienced serious heart problems *before* starting lomitapide with how often they experience them *during* treatment.

The goal is to get a clearer picture of how lomitapide helps protect the heart in the long run. By gathering this information, researchers hope to improve understanding of HoFH and its treatment, ultimately helping doctors make the best choices for their patients.

Key takeaways

This study focuses on people with a rare inherited high cholesterol condition called HoFH.
It aims to understand how lomitapide affects the risk of serious heart problems over time.
The study uses existing medical records and follows patients for up to three years.
You won't have new treatments or tests as part of this study.
Your participation helps improve knowledge about HoFH and its treatment.
It's an observational study, meaning researchers look at what's already happening.

Who may be eligible?

This study is looking for adults who have been diagnosed with Homozygous familial hypercholesterolemia (HoFH).

To be considered, you must be 18 years or older and have been taking the medication lomitapide for at least 12 months. Also, there needs to be at least three years of your medical records available from before you started taking lomitapide, so researchers can check for any past heart problems. You should also be able to understand what the study involves and be willing to give your written consent to take part.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Have you been diagnosed with Homozygous familial hypercholesterolemia (HoFH)?
Have you been taking lomitapide for at least 12 months?
Do you have at least three years of medical records available from before you started lomitapide?
Are you able to understand the study information and give your written consent to participate?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you won't be asked to change any of your current medications or treatments. All the information collected will come from your regular medical check-ups that are already part of your usual care. This includes details like your weight, height, age, and sex.

Doctors will also look at your blood pressure, heart rate, and medical history, including any genetic test results for HoFH. They will track any serious heart problems you may have, as well as any other serious health issues. They'll also review your blood test results, such as cholesterol levels and liver function. If available from within the year before you started lomitapide, they may also check liver scans like MRI or ultrasound.

You will be followed for up to three years in this study. This helps them understand the long-term effects of lomitapide.

Potential risks and benefits

Taking part in this study won't directly benefit you, as you'll continue with your usual care. However, your participation will help doctors and researchers understand more about HoFH and how lomitapide works, which could improve care for others in the future. As this is an observational study, you won't undergo any extra tests or procedures specifically for the study, so there are no additional risks from participating. You can find out more about the known risks and side effects of lomitapide from its patient information leaflet. Remember, you are free to withdraw from the study at any time without affecting your medical care.

Locations (29)

Imperial College Healthcare NHS Trust
City only
London, United Kingdom
Guy’s & St Thomas’ NHS Foundation Trust Royal Brompton and Harefield Hospitals
City only
London, United Kingdom
Queen Elizabeth Hospital
Approximate
Birmingham, United Kingdom
University Department of Medicine Central Manchester University Hospitals NHS Foundation Trust
City only
Manchester, United Kingdom
Centro per le Malattie Rare del Metabolismo dei Lipidi Unità di Medicina Interna e Malattie Metaboliche Dipartimento di Medicina Traslazionale e di Precisione Sapienza Università di Roma
City only
Roma, Italy
Prof. Paolo CALABRO’ Dipartimento Scienze-Cardiovascolari AO “Sant’Anna e San Sebastiano” di Caserta
Unverified
Caserta, Italy
U.O. ASTANTERIA/MCAU AOU Policlinico “Paolo Giaccone” di Palermo
Unverified
Palermo, Italy
Medicina Interna Cardiovascolare Dipartimento Malattie Cardio-Toraco-Vascolare Policlinico Sant’Orsola di Bologna
Unverified
Bologna, Italy
DAI di Medicina Clinica Centro di Riferimento Regionale di Lipidologia e Dislipidemie AOU Federico II di Napoli
Unverified
Napoli, Italy
Direttore Nefrologia e Emodialisi Centro Aterosclerosi e Dislipidemie Ospedale Bassini ASST Nord Milano
Unverified
Cinisello Balsamo, Italy
U.O. Nutrizione Clinica AOU Mater Domini di Catanzaro
Unverified
Catanzaro, Italy
S.S. Servizio Trasfusionale A.O.U. Ospedale S. Luigi Gonzaga
Unverified
Orbassano, Italy

Common questions

What is HoFH?

HoFH is a very rare inherited condition that causes extremely high cholesterol levels from birth, which can lead to serious heart problems.

What is lomitapide?

Lomitapide is a medication used to significantly lower cholesterol levels in people with HoFH.

Will I have to take new medicine or extra tests for the study?

No, you will not have to take any new medicine or have extra medical tests just for this study. All information will come from your routine medical appointments.

How long will the study last if I take part?

Once enrolled, the study will follow your health records for about three years.

Who is paying for this study?

The study is funded by Fondazione SISA, an organisation in Italy.

How to find out more

Alberico Catapano

alberico.catapano@unimi.it +39 (0)2 49637591 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.