RecruitingOBSERVATIONAL

EAS Familial Hypercholesterolaemia Studies Collaboration

The EAS Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC) is a global effort to gather information about a genetic condition called Familial Hypercholesterolaemia (FH). If you have FH, your body struggles to remove 'bad' cholesterol (LDL-C), leading to a much higher risk of heart problems at a younger age. Sadly, many people with FH don’t know they have it, or aren't getting the best treatment. This study isn't about new treatments; it’s about collecting existing, anonymous data from doctors and clinics around the world. By putting all this data together in one huge, standardised database, researchers can get a much clearer picture of FH globally. This information will help improve early diagnosis, guide better treatments, and even influence healthcare policies to support people with FH.

At a glance

Status

Recruiting

Sponsor

Imperial College London

Enrolment target

75,000

Start

22 Mar 2015

Estimated completion

01 Dec 2030

Familial Hypercholesterolemia

What is this study about?

Familial Hypercholesterolaemia (in short, FH) is a common condition that runs in families. If you have FH, your body doesn't handle cholesterol in the usual way, leading to very high levels of 'bad' cholesterol (called LDL-C) in your blood. Having high LDL-C for a long time can significantly increase your risk of heart and blood vessel problems, often much earlier in life than for people without FH.

Even though we know that finding FH early and starting effective treatment can make a big difference, many people with this condition aren't diagnosed or don't receive the best possible care. This means that a lot of people at risk are missing out on important steps to protect their heart health. One of the main reasons for this is that information about FH is scattered across many different countries and medical centres, making it hard to get a complete picture of the situation worldwide.

The EAS FHSC is a large global project designed to tackle this problem. It brings together doctors and experts from nearly 60 countries to create a single, comprehensive database of information about people with FH. This project doesn't involve giving new treatments or direct tests; instead, it gathers existing, anonymous patient details from many different clinics and registries. By combining and standardising this data, researchers can learn much more about FH globally, understand how it's being treated, and identify areas where care can be improved. This knowledge is vital for developing better guidelines, supporting earlier diagnosis, and ensuring more effective treatment for everyone living with FH.

Key takeaways

FH is a common genetic condition causing high ‘bad’ cholesterol.
Many people with FH are undiagnosed or undertreated.
This study gathers anonymous health data from around the world to understand FH better.
The goal is to improve early diagnosis and effective treatment globally.
It's an observational study, not a treatment trial, and involves no direct patient participation.

Who may be eligible?

This study is gathering information about people who have a diagnosis of Familial Hypercholesterolaemia (FH), whether it was found through clinical signs (what a doctor observes) or genetic testing. It also includes information about family members of someone with FH, even if those family members don't have an FH diagnosis themselves but were screened for the condition.

To be included, all personal details that could identify someone must be removed from the information before it's added to the study's database. This protects everyone's privacy.

However, some people would not have their information included. For example, if someone's high cholesterol is due to another medical problem, like an underactive thyroid or kidney disease, rather than FH, their data would not be used. Also, if there are local rules that prevent anonymised data collection, that information wouldn't be included.

Quick self-check

Do you have a diagnosis of Familial Hypercholesterolaemia (FH)?
Was your FH diagnosed by a doctor or through a genetic test?
Are you a family member of someone with FH who might have been screened for the condition?
Is your high cholesterol definitely due to FH, not another health problem?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

This study does not involve direct participation by individuals. You wouldn't attend any appointments, take any medication, or have any follow-up visits specifically for this project. Instead, researchers are collecting anonymous, existing health information that has already been gathered by doctors and clinics in different countries. Your individual information, if it were to be included, would have all identifying details removed beforehand, meaning it’s impossible for anyone to trace it back to you. This is a study based on reviewing already collected medical records, not on new patient involvement.

Potential risks and benefits

This study collects existing, anonymous information, so there are no direct risks to individuals. You don't have to do anything, and your personal privacy is protected because all identifying details are removed from the data before it's used. The primary benefit is to the wider community of people with FH. By combining data from many individuals, researchers can create a clearer picture of FH worldwide, leading to better ways to diagnose and treat the condition, improve care, and ultimately help people with FH live healthier lives. Because no new data is being collected from individuals, there is no 'right to withdraw' for individual patient data once it has been anonymised and included in the database.

Locations (1)

School of Public Health, Imperial College London
London, United Kingdom· Recruiting

Common questions

What is Familial Hypercholesterolaemia (FH)?

FH is a genetic condition that causes very high levels of 'bad' cholesterol (LDL-C) in your blood, increasing your risk of heart problems.

Am I directly involved in this study?

No, this study collects anonymous information from existing medical records. You won't be asked to do anything or attend appointments.

How does this study help people with FH?

By looking at lots of anonymous data, researchers can better understand FH globally, leading to earlier diagnosis and improved treatments for everyone with the condition.

Is my personal information safe?

Yes, all personal details are removed from the data before it's added to the study, so your privacy is fully protected.

Is this a drug trial?

No, this is an 'observational' study. It collects and analyses existing information, rather than testing new medications or treatments.

How to find out more

EAS FHSC Coordinating Centre

coordinator@eas-fhsc.org +44 (0)20 7594 2771 Official trial record

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