Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
ConditionCardiomyopathy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-18
SponsorTenaya Therapeutics
About this trial
The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality of life (QoL). This study will also collect information on treatments, procedures and outcome in infants and children up to 18 yrs who have this mutation.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Data is available for patient <18 years of age. Patients must be <18 years of age at enrollment or at time of death.
Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
Disqualifiers
Patient received cardiac transplantation or died >10 years before study initiation. For homozygous or biallelic infants, data may be collected beyond this 10-year period.
Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
Age <18 at entry into the prospective study.
Documented results of genotyping identifying at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
Trial population
Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation
Trial design
Design model
Other
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsGroup A: Retrospective
Group B: Prospective
Trial outcomes
Primary outcomes
1
To characterize the disease course and natural history in participants with pathogenic or likely pathogenic MYBPC3 mutations with a specific focus on cardiac events and measurement
Time frame
5 years for prospective group, n/a for retrospective groupSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov