RecruitingNAINTERVENTIONAL

Screening for Familial Hypercholesterolemia in Children

This study is exploring better ways to identify a common inherited condition in children called Familial Hypercholesterolemia, or FH. FH means a child has very high cholesterol from a young age, which can lead to serious heart problems later in life if not treated. The good news is that FH is treatable with simple and effective methods. Currently, many children with FH aren't diagnosed, meaning they miss out on early treatment that could significantly improve their health. This study aims to understand if screening all children, not just those with a family history, could help find more cases of FH. Finding FH early allows for healthy lifestyle changes and mild treatments that can prevent heart disease and greatly improve a child's future health.

At a glance

Status

Recruiting

Phase

Sponsor

Centre Hospitalier Universitaire, Amiens

Enrolment target

300

Start

02 Jan 2025

Estimated completion

01 Feb 2027

Hypercholesterolemia, Familial

What is this study about?

Familial Hypercholesterolemia (say Fah-mil-ee-al Hi-per-kol-es-ter-ol-ee-mee-a), or FH for short, is a condition passed down in families that causes very high levels of 'bad' cholesterol (LDL) in the blood. Even children with FH can have these high levels. While high cholesterol is often linked to lifestyle, with FH, it's something you inherit. If left untreated, FH can lead to serious heart problems much earlier in adulthood, sometimes as much as 13 times more likely than someone without FH. For example, a 40-year-old with untreated FH could have arteries similar to those of an 80-year-old.

The good news is that FH is the most common inherited condition that can be easily and effectively treated, with very few side effects. Treatment often involves healthy eating from a young age and, if needed, medicines like statins. These treatments can dramatically reduce the risk of heart disease and improve long-term health. However, many people with FH, especially children, don't know they have it. This means they miss out on vital early treatment that could protect their heart.

Currently, doctors mainly check for FH in children if a close family member has had early heart problems or is already known to have FH. But some health experts, including the World Health Organization, believe we should check all children. They think this could help more children get diagnosed early, start healthy habits, and receive treatment before any problems develop. Countries like Slovenia and even parts of the UK are starting to look at more widespread screening, and these efforts are showing promising results in protecting children's hearts. This study wants to add to that understanding, specifically for children in France.

Key takeaways

FH is an inherited condition causing high cholesterol in children.
Early diagnosis and treatment of FH can prevent serious heart problems.
This study explores screening all children for FH, not just those with family history.
A simple blood test is the main way to check for FH.
Effective treatments for FH exist, including healthy eating and medication.

Who may be eligible?

This study is looking for children aged between 2 and 18 years old to take part. For a child to join, they would need to have not eaten anything for at least 8 hours before the blood sample is taken. Both the child's parents and the child themselves, if old enough to understand, would need to agree to take part by signing a consent form.

Children would not be able to join this study if they already know they have Familial Hypercholesterolemia. Also, any child who has recently been diagnosed with diabetes (less than a month ago), has severe thyroid problems (called profound hypothyroidism), a specific kidney condition (acute nephrotic syndrome), or is being treated for cancer, would not be able 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.

Is your child aged between 2 and 18 years old?
Can your child avoid eating for 8 hours before a blood test?
Do you and your child (if they understand) agree to take part?
Does your child NOT already know they have Familial Hypercholesterolemia?
Does your child NOT currently have diabetes diagnosed in the last month?
Has your child NOT been diagnosed with severe low thyroid function, a specific kidney problem, or cancer being treated?

Answer every question to see your result.

What does participation involve?

If your child joins this study, they would need to provide a blood sample. This sample would be taken after they have fasted, meaning they haven't eaten for at least 8 hours. The blood sample is used to check their cholesterol levels. Beyond this initial assessment, the study description does not detail further visits, medications, or follow-up appointments. The main involvement described is the fasting blood test. The total duration of participation isn't specified beyond the single blood sample collection.

Potential risks and benefits

Taking part could offer the benefit of potentially finding out if your child has Familial Hypercholesterolemia, which could lead to early treatment and better long-term heart health. The main risk involved is the mild discomfort or a small bruise from the blood test. As with any blood test, there's a very small risk of infection. You and your child are free to withdraw from the study at any time, for any reason, without needing to explain why, and this would not affect your child's medical care.

Locations (1)

CHRU Amiens
Verified postcode
Amiens, France· Recruiting

Common questions

What is Familial Hypercholesterolemia (FH)?

FH is an inherited condition where your body has very high levels of 'bad' cholesterol (LDL) from a young age, which can increase the risk of heart problems later in life if not treated.

Why is it important to find FH in children?

Finding FH early allows for simple treatments and healthy lifestyle changes to start sooner, which can greatly reduce the risk of serious heart problems when they get older.

What does 'screening' mean in this study?

Screening means checking a group of people, in this case, children, for a specific condition even if they don't have symptoms, to try and find cases early.

What is the treatment for FH?

Treatment often starts with healthy eating and lifestyle changes. If needed, medications like statins are very effective and have few side effects.

Will my child have to take medicine if they have FH?

Not necessarily right away. Early management often focuses on diet and exercise. Medication might be considered later, based on their cholesterol levels and doctor's advice.

How to find out more

gwendoline Buissart, MD

buissart.gwendoline@chu-amiens.fr 0322838466 Official trial record

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