Brief Summary
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.
Brief Title
Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
Central Contacts
Central Contact Role
Contact
Central Contact Phone
650-209-8092
Central Contact Email
mpollman@tenayathera.com
Central Contact Role
Contact
Central Contact Email
clinical.trials@tenayathera.com
Completion Date
Completion Date Type
Estimated
Conditions
Cardiomyopathy
Eligibility Criteria
Retrospective
Inclusion Criteria:
* 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).
Exclusion Criteria:
* 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.
Prospective
Inclusion Criteria:
For Infants:
* Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
For all other participants:
* 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).
* Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
Exclusion Criteria:
* Concurrent participation in an interventional clinical trial unless approved by the sponsor.
* Severe noncardiac disease anticipated to significantly reduce life expectancy.
Inclusion Criteria:
* 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).
Exclusion Criteria:
* 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.
Prospective
Inclusion Criteria:
For Infants:
* Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
For all other participants:
* 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).
* Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
Exclusion Criteria:
* Concurrent participation in an interventional clinical trial unless approved by the sponsor.
* Severe noncardiac disease anticipated to significantly reduce life expectancy.
Inclusion Criteria
Inclusion Criteria:
* 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).
Inclusion Criteria:
For Infants:
* Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
For all other participants:
* 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).
* Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
* 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).
Inclusion Criteria:
For Infants:
* Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
For all other participants:
* 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).
* Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
Gender
All
Gender Based
false
Keywords
Genetic Cardiomyopathy
Pediatric
MYBPC3
Hypertrophic Cardiomyopathy (HCM)
Dilated Cardiomyopathy
Restrictive Cardiomyopathy
Non-Compaction cardiomyopathy
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
Maximum Age
18 Years
Minimum Age
0 Years
NCT Id
NCT05112237
Org Class
Industry
Org Full Name
Tenaya Therapeutics
Org Study Id
TN-201-0003
Overall Status
Recruiting
Primary Completion Date
Primary Completion Date Type
Estimated
Official Title
A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
Primary Outcomes
Outcome Measure
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
Outcome Time Frame
5 years for prospective group, n/a for retrospective group
Start Date
Start Date Type
Actual
Status Verified Date
First Post Date
First Post Date Type
Actual
First Submit Date
First Submit QC Date
Study Population
Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation
Std Ages
Child
Adult
Locked Fields
Render the field
Maximum Age Number (converted to Years and rounded down)
18
Minimum Age Number (converted to Years and rounded down)
0
Investigators
Investigator Type
Principal Investigator
Investigator Name
Daphne Hsu
Investigator Email
dhsu@montefiore.org
Investigator Phone
718-741-2538
Investigator Department
Pediatrics
Investigator Division
Pediatric Cardiology
Investigator Sponsor Organization
External
Study Department
Pediatrics
Study Division
Pediatrics Cardiology
Categories Mesh Debug
Brain, Spinal Cord & Nervous System --- HEART DISEASES
Heart/Cardiovascular --- HEART DISEASES
Blood Disorders --- CARDIOVASCULAR DISEASES
Blood & Bone Marrow Cancers --- CARDIOVASCULAR DISEASES
Heart/Cardiovascular --- CARDIOVASCULAR DISEASES
Heart/Cardiovascular --- HEART VALVE DISEASES
MeSH Terms
CARDIOMYOPATHIES
CARDIOMYOPATHY, HYPERTROPHIC
CARDIOMYOPATHY, DILATED
CARDIOMYOPATHY, RESTRICTIVE
HEART DISEASES
CARDIOVASCULAR DISEASES
AORTIC STENOSIS, SUBVALVULAR
AORTIC VALVE STENOSIS
AORTIC VALVE DISEASE
HEART VALVE DISEASES
CARDIOMEGALY
LAMINOPATHIES
GENETIC DISEASES, INBORN
CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES