Natural History Study in Pediatric Patients with MYBPC3
Research type
Research Study
Full title
A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients with Cardiomyopathy due to MYBPC3 Mutations
IRAS ID
304240
Contact name
Juan Pablo Kaski
Contact email
Sponsor organisation
Tenaya Therapeutics
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
50701, NIHR CPMS
Duration of Study in the UK
4 years, 9 months, 1 days
Research summary
This study aims to evaluate the natural history of patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene. MYBPC3 is the most common genetic cause of hypertrophic cardiomyopathy(HCM). MYBPC3 mutations have also been associated with other forms of CM in addition to HCM. The objective of this study is to follow, characterize and evaluate the natural history of the disease course, burden of illness, risk factors, quality of life (QoL), and biomarkers associated with disease progression and treatments in pediatric patients with CM due to MYBPC3 pathogenic or likely pathogenic mutations. The study will develop a registry to collect retrospective and prospective information related to the course of the condition, and burden of illness, QoL, as well as treatments, procedures, and outcomes in infants and children with MYBPC3 mutations up to 18 years of age. The study will include approximately 40 sites globally. The prospective cohort will be followed for up to 5 years.
It is important to perform a natural history study to characterize the course of CM in patients with MYBPC3 mutations to define which children would benefit the most from future therapies, and to establish a baseline natural history that can be used as a comparator to evaluate the effects of novel treatments in subsequent interventional studies.
REC name
London - Bromley Research Ethics Committee
REC reference
22/PR/0099
Date of REC Opinion
24 Jun 2022
REC opinion
Further Information Favourable Opinion