RecruitingOBSERVATIONAL

Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)

This study is reviewing past information from children born with a heart problem called RASopathy-associated hypertrophic cardiomyopathy (RAS-CM). This condition can be very serious, especially in babies. While there are some promising new treatments being explored, it's hard to test them in very sick infants. By looking back at existing health records, researchers hope to understand the condition better and create a detailed collection of patient information. This collection will be vital for comparing with future studies of new medicines. The ultimate goal is to help scientists and doctors develop and test new, effective treatments for children affected by RAS-CM, improving their long-term health and well-being.

At a glance

Status

Recruiting

Sponsor

Deutsches Herzzentrum Muenchen

Enrolment target

100

Start

17 Jun 2025

Estimated completion

31 Dec 2026

Hypertrophic Cardiomyopathy (HCM)Heart Failure RASopathy

What is this study about?

This study is a bit different from many others because it doesn't involve any new treatments or tests for patients. Instead, it's a 'retrospective natural history study.' This means researchers are looking back at existing medical records and information that has already been collected from patients with a specific heart condition.

The condition being studied is called RASopathy-associated hypertrophic cardiomyopathy, often shortened to RAS-CM. This is a heart problem linked to a group of genetic conditions called RASopathies. In RAS-CM, the heart muscle becomes unusually thick, which can make it harder for the heart to pump blood effectively. This can be particularly serious for babies and young children.

The main reason for doing this study is to gather detailed information about how RAS-CM affects people over time. This includes clinical information (like symptoms, how well they responded to care, and hospital stays) and genetic information (details about their specific genetic changes). This collection of information will serve two important purposes: first, it will help set up a baseline that can be used to compare with future studies of new medicines, especially when it's not possible to do traditional trials with control groups. Second, it will help researchers understand the condition better, which can guide them in choosing the most important things to measure in future treatment studies. The hope is that this will speed up the development of new and more effective treatments for RAS-CM.

Key takeaways

This study reviews past medical records of children with a specific heart condition.
It aims to understand how RASopathy-associated cardiomyopathy (RAS-CM) progresses naturally.
The information will help develop and test new treatments in future studies.
No new treatments or tests are involved for patients.
The study focuses on children diagnosed between 2015 and 2019 who had heart issues early in life.

Who may be eligible?

To be included in this study, the patient must have had a confirmed genetic diagnosis of a RASopathy, which means a specific change was found in one of the genes related to this condition. They also needed to have a diagnosis of a thickened heart muscle (hypertrophy) based on heart scans, with the thickness being greater than what’s considered normal for their age.

Finally, they must have been admitted to hospital between January 2015 and June 2019 because of heart failure, or developed worsening heart failure during a hospital stay within their first six months of life. Heart failure in babies was identified using a specific scoring system called the Ross Score.

Patients would not be included if they had received certain medications that specifically target the disease pathways, or if there wasn't enough information in their medical records to calculate their Ross Score accurately during their first six months.

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.

Does your child have a confirmed genetic diagnosis of a RASopathy?
Was your child's heart muscle shown to be thicker than normal on a scan?
Was your child admitted to hospital for heart failure between 2015 and 2019, or developed it early in life?
Has your child NOT received specific medications called mTOR or MEK inhibitors?
Are your child's early medical records detailed enough to understand their heart failure symptoms?

Answer every question to see your result.

What does participation involve?

As this is a 'retrospective' study, it means researchers are looking at information that has already been collected in the past. If your child's medical records are included, your participation is completely passive. There will be no hospital visits, no new tests, no medications to take, and no changes to your child's current medical care. Your child's medical information will simply be reviewed by the researchers to help them understand more about their condition. There is no direct follow-up or specific duration of participation for individual patients, as the data collection is from historical records.

Potential risks and benefits

Since this study only involves reviewing existing medical records, there are no direct physical risks to your child. The main risk is linked to privacy and ensuring that personal information is handled securely and confidentially. Researchers will take steps to protect your child's identity. There are no direct benefits to your child from taking part in this study. However, the information gathered could significantly help other children in the future by paving the way for better understanding and the development of new treatments for RASopathy-associated cardiomyopathy. You have the right to withdraw your consent for your child's anonymised information to be used, if appropriate, by contacting the study team, but as the data is retrospective and anonymised, withdrawal may not always be possible once data has been collected.

Locations (1)

TUM Klinikum Deutsches Herzzentrum München
Verified postcode
München, Germany· Recruiting

Common questions

What is a 'natural history study'?

It's a study that observes how a disease develops and progresses over time in people who are not receiving any new experimental treatments, simply looking at existing records.

Will my child receive any new treatment if their records are used?

No, this study only involves looking at past medical records. It does not involve any new treatments or direct interaction with your child.

How will my child's privacy be protected?

Researchers will handle all medical information confidentially, usually by removing direct identifiers so that the information cannot be linked back to your child immediately.

Why is this study important if it's just looking at old data?

By understanding the past progression of the disease, researchers can better design new studies for potential treatments and understand how well new drugs might be working.

What is a RASopathy?

RASopathy is a general term for a group of genetic conditions caused by changes in specific genes, which can affect many parts of the body, including the heart.

How to find out more

Cordula Prof. Wolf

wolf@dhm.mhn.de +49 89 1218-2441 Official trial record

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