Ignite Creation Date:
2024-10-25 @ 7:48 PM
Last Modification Date:
2024-10-26 @ 3:35 PM
Study NCT ID:
NCT06508164
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-07-08
Brief Title:
International CRDS Registry
Sponsor:
None
Organization:
None
Study Overview
Official Title:
International Calcium Release Deficiency Syndrome Registry
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CRDS Registry
Brief Summary:
Calcium Release Deficiency Syndrome CRDS is a newly discovered genetic arrhythmia syndrome that confers a risk of life-threatening arrhythmias secondary to RYR2 loss-of-function The International CRDS registry has been designed to facilitate large-scale evaluation of CRDS including its phenotypic spectrum approaches to risk stratification and optimal treatment strategies
Detailed Description:
Calcium Release Deficiency Syndrome CRDS is a recently discovered inherited arrhythmia syndrome that predisposes to malignant ventricular arrhythmias and sudden cardiac death SCD The underlying genetic culprit of CRDS is RYR2 which encodes the cardiac ryanodine receptor In contrast to Catecholaminergic Polymorphic Ventricular Tachycardia CPVT which stems from pathogenic RYR2 gain-of-function CRDS manifests secondary to RyR2 loss-of-function Enrolment into the CRDS registry requires that the putative disease causing RYR2 variant is confirmed to result in a loss-of-function on in vitro functional analysis Individuals possessing an RYR2 truncating variant or large copy number variant will be eligible for enrolment into a second registry arm Patients with a suspected CRDS diagnosis whose RYR2 variant is found not to impact function will be entered into a control arm of the registry
Given its recent discovery our understanding of CRDS remains in its infancy The International CRDS registry has been designed to facilitate evaluation of large numbers of CRDS patients and enable robust insights to hopefully improve management of affected patients and families
Given its recent discovery our understanding of CRDS remains in its infancy The International CRDS registry has been designed to facilitate evaluation of large numbers of CRDS patients and enable robust insights to hopefully improve management of affected patients and families
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None