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Neurologic and Cardiac Phenotype in Patients with CPVT

Quick Facts 

 

📌 Studying: How CPVT may affect both the heart and the brain (including learning, attention, mood, and development), using standardized questionnaires.

📌 Condition: CPVT

📌 Ages: 3–18 years

📌 Status: Now Enrolling

About This Research Study

Researchers have noticed that some people with CPVT – especially those with variants in RYR2 – may also experience neurologic or neurodevelopmental challenges (like seizures, learning differences, attention challenges, or autism spectrum traits).

This study from the University of British Columbia (Principal Investigator: Dr. Shubhayan Sanatani) aims to:

❤️ Screen for neurodevelopmental disorders (NDD) in a large group of children with CPVT, and
❤️ Better understand the cardiac course of CPVT in children who may also have NDD features.

What will participation involve?

Families may be asked to complete a set of brief questionnaires, and the child may complete a virtual (remote) standardized IQ assessment.

If anything clinically important is flagged on screening, the study team will notify the participant’s physician so the family can be supported with next steps.

What is a Research Study?

Learn more about research studies – including FAQs and questions to consider as you decide whether participation is right for your family – here.

What are the basic eligibility criteria? 

This study is for families who meet these basic criteria:

  • Age: 3–18 years
  • Diagnosis: Confirmed CPVT (with or without an identified genetic variant), diagnosed at age ≤18 years.
  • Consent: Able and willing to provide consent/assent
  • Location: open to participation in the United States and Canada

Full eligibility will be confirmed by the research team.

Neurologic and Cardiac Phenotype in Patients with CPVT

After filling out the form below, you’ll have a chance to discuss this research study—and any questions you might have—directly with the staff at the SADS Foundation. Then a member of our team will connect you one-on-one with the research coordinator.

Your Name(Required)
Address
Name of Affected Individual(Required)
Tell us about the person who is interested in joining the registry. If you’re completing this form for your child (or someone you care for), please enter their information below.
Does the affected individual have CPVT?(Required)
Consent(Required)