International registry for rare RYR2 variants
Part of Heart & circulation clinical trials.
This study creates a registry for people with rare changes in the RYR2 gene that affect heart function. Researchers will collect information to better understand these conditions and improve care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare change in the RYR2 gene, considered rare if found in less than 0.1% of the general population.
- Your RYR2 variant is known to cause loss of function (tested in a lab to reduce protein activity).
- Or you have a RYR2 variant that causes truncation (early stop signal) or a large copy number change (missing or extra genetic material).
- Or you have a rare RYR2 variant that is neither loss nor gain of function (non-functional).
- You are willing to have your RYR2 gene tested or provide results from previous testing.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study is evaluating a new diagnostic test for Calcium Release Deficiency Syndrome (CRDS) and related heart rhythm disorders. It aims to find out if this test can accurately identify patients with these conditions, which could lead to better diagnosis and treatment.
This study follows people with RYR1-related disorders over time to learn how the condition progresses. It may help researchers plan future treatments.
This study looks at people with RYR1-related conditions like muscle weakness or malignant hyperthermia. The goal is to learn more about these conditions and how common they are.
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
This trial is a registry that collects medical and genetic information from people with rhizomelic chondrodysplasia punctata (RCDP) or closely related conditions. It helps researchers better understand the condition and plan future studies that could lead to better care.
This study is building a Canadian database and tissue/blood bank for people and families with inherited heart rhythm conditions (and some inherited heart muscle diseases). It collects consented health and genetic information to help researchers better understand who is at risk and how these conditions work.
Hear when a new Calcium Release Deficiency Syndrome trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.