RecruitingOBSERVATIONAL

International CRDS Registry

This registry is researching a newly identified heart condition called Calcium Release Deficiency Syndrome (CRDS). This condition happens when there's a problem with a specific gene, RYR2, which is important for how calcium works in your heart cells. This genetic change can unfortunately lead to serious, life-threatening heart rhythm problems. The main goal of this registry is to gather information from many people with CRDS. By doing this, doctors hope to understand the condition better, including its various forms, how to best identify those at risk, and the most effective ways to treat it. The knowledge gained will help improve care for patients and their families.

At a glance

Status

Recruiting

Sponsor

Population Health Research Institute

Enrolment target

500

Start

21 Nov 2024

Estimated completion

31 Dec 2050

Calcium Release Deficiency Syndrome

What is this study about?

Imagine your heart cells have tiny internal gates that control how calcium flows in and out. This calcium flow is crucial for every heartbeat. For people with Calcium Release Deficiency Syndrome (CRDS), these gates, controlled by a gene called RYR2, don't open properly, or don't release enough calcium when they should. This problem can make the heart beat irregularly and sometimes dangerously fast, which doctors call an arrhythmia.

CRDS is a very new discovery, so doctors are still learning a lot about it. That's why this international registry has been set up. A registry is like a large collection of information from many different patients. By bringing all this information together, doctors can see patterns and gain a much better understanding of CRDS than if they only studied a few patients.

Specifically, this registry aims to understand the full range of CRDS symptoms, called the 'phenotypic spectrum.' It also looks at the best ways to predict who might be at higher risk of serious problems, known as 'risk stratification,' and to figure out which treatments work best. The ultimate goal is to improve the lives of people with CRDS.

Key takeaways

CRDS is a newly discovered heart rhythm condition.
It's caused by a problem with the RYR2 gene that affects heart calcium.
The registry aims to gather information to improve understanding and treatment.
Participation helps future patients with CRDS.
It usually involves sharing existing medical records, not new treatments.
Your privacy is protected, and you can withdraw anytime.

Who may be eligible?

If you are thinking about joining, there are a few different groups you might fit into, depending on your genetic test results.

One main group includes people who have a rare change in their RYR2 gene that laboratory tests have shown makes the calcium gates in their heart cells not work as well as they should (called 'loss-of-function').

There's also a group for people with a rare RYR2 gene change that involves a piece of the gene being missing or cut short. Finally, there's a control group for people who have a rare RYR2 gene change, but tests show it doesn't seem to affect how the calcium gates work. This helps researchers compare different situations.

Quick self-check

Do I have a diagnosis of Calcium Release Deficiency Syndrome (CRDS)?
Have I had a genetic test showing a change in my RYR2 gene?
Have laboratory tests specifically shown that this RYR2 gene change makes my heart cells not work as well?
Is my RYR2 gene change considered rare (meaning it's not common in the general population)?

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

What does participation involve?

Taking part in this registry generally involves sharing your medical information and test results with the research team. This information will be collected from your existing medical records. You won't typically need to attend extra hospital visits for the registry itself, or take new medications as part of it. The focus is on gathering information about your condition and how it's managed under your usual care. The total duration of your participation will depend on how long the registry continues to collect data, but you won't need to do anything beyond allowing access to your medical information.

Potential risks and benefits

The main benefit of participating is helping researchers learn more about CRDS, which could lead to better understanding and treatments for future patients like yourself. As this is a registry collecting existing information, there are very few direct risks. Your personal medical information will be kept confidential to protect your privacy. You are completely free to decide not to participate, or to withdraw your consent at any time without it affecting your medical care.

Locations (17)

University of California
San Francisco, United States· Recruiting
Mayo Clinic
Rochester, United States· Recruiting
Duke University
Durham, United States· Recruiting
Inova Health Care Services
Fairfax, United States· Recruiting
Garvan Institute of Medical Research
Darlinghurst, Australia· Recruiting
Antwerp University Hospital
Edegem, Belgium· Recruiting
Universitair Ziekenhuis Brussel
Brussels, Belgium· Recruiting
University of Calgary
Calgary, Canada· Recruiting
Children's & Women's Health Centre of British Columbia
Vancouver, Canada· Recruiting
Hamilton General Hospital
Hamilton, Canada· Recruiting
London Health Sciences Centre - University Hospital
London, Canada· Recruiting
Montréal Heart Institute
Montreal, Canada· Recruiting

+5 more sites — see the official record for the full list.

Common questions

What is Calcium Release Deficiency Syndrome (CRDS)?

It's a newly discovered heart condition caused by a genetic problem in the RYR2 gene, affecting how calcium works in your heart, which can cause irregular heartbeats.

Why is this registry important?

Because CRDS is new, this registry helps doctors collect information from many patients to better understand the condition and find the best ways to diagnose and treat it.

Will I have to take new medicines or have extra tests?

No, this registry primarily collects information from your existing medical records; it doesn't involve new medications or extra tests for you.

Who can join the registry?

People with specific, rare changes in their RYR2 gene that affect how their heart cells work, as confirmed by laboratory tests.

Is my personal information safe?

Yes, all your medical information will be kept confidential and handled with care to protect your privacy.

How to find out more

Jason D Roberts, MD MAS

crds@phri.ca 905-297-3479 Official trial record

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