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Calcium release deficiency syndrome (CRDS)

Overview

About this study

The purpose of this research study is to establish a large registry of individuals diagnosed with CRDS, along with individuals that have genetic changes that could potentially place them at risk for a CRDS-like condition, from around the world.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria Possess:

  • A rare* RYR2 variant that is characterized to be loss-of-function based on in vitro testing.
  • A rare* RYR2 truncating variant and/or large copy number variant involving the RYR2 gene.
  • A rare* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing.

Exclusion Criteria:

  • Individuals who do not meet the specified inclusion criteria will be automatically considered ineligible for participation in the study and will not be approached for recruitment. Inclusion criteria are established to define the target population based on research objectives, ensuring transparency and consistency in participant selection.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 7/31/2024. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

John Giudicessi, M.D., Ph.D.

Contact us for the latest status

Contact information:

CVRU Heart Rhythm Services Research Team

(507) 255-0774

More information

Publications

Publications are currently not available

More about research at Mayo Clinic

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CLS-20573190

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