Clinical trial NCT05112237: Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
Official title: A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cardiomyopathy
Keywords: Genetic Cardiomyopathy
Pediatric
MYBPC3
Hypertrophic Cardiomyopathy (HCM)
Dilated Cardiomyopathy
Restrictive Cardiomyopathy
Non-Compaction cardiomyopathy
Lead sponsor: Tenaya Therapeutics
Sponsor class: INDUSTRY
First posted: 2021-11-08
Enrollment: 200
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation

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.


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.

Primary outcomes:
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
timeFrame: 5 years for prospective group, n/a for retrospective group
Secondary outcomes:
Other outcomes:
Locations:
city: Little Rock
country: United States
facility: Arkansas Children's Hospital
state: Arkansas
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: Sacramento
country: United States
facility: University of California Davis Health
state: California
city: San Diego
country: United States
facility: Rady Children's Hospital - San Diego
state: California
city: Aurora
country: United States
facility: University of Colorado Hospital - Anschutz Medical Campus
state: Colorado
city: Wilmington
country: United States
facility: Nemours Alfred I. Dupont Hospital for Children
state: Delaware
city: Hollywood
country: United States
facility: Joe DiMaggio Children's Hospital
state: Florida
city: Kansas City
country: United States
facility: Children's Mercy Hospital Kansas
state: Missouri
city: Saint Louis
country: United States
facility: St. Louis Children's Hospital
state: Missouri
city: Bronx
country: United States
facility: Montefiore Medical Center, Albert Einstein College of Medicine
state: New York
city: Lake Success
country: United States
facility: Cohen Children's Medical Center
state: New York
city: New York
country: United States
facility: Mount Sinai
state: New York
city: New York
country: United States
facility: Columbia University Irving Medical Center
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic Main Campus
state: Ohio
city: Middlefield
country: United States
facility: DDC Clinic Center for Special Needs Children
state: Ohio
city: Lancaster
country: United States
facility: Cardiology Care for Children
state: Pennsylvania
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh
state: Pennsylvania
city: Dallas
country: United States
facility: Children's Medical Center Dallas
state: Texas
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
city: Edmonton
country: Canada
facility: University of Alberta Hospital
state: Alberta
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Déu Barcelona
city: Madrid
country: Spain
facility: Hospital General Universitario Gregorio Marañón
city: Vigo
country: Spain
facility: Hospital Alvaro Cunqueiro - Clinico Universitario Vigo
city: Glasgow
country: United Kingdom
facility: NHS Greater Glasgow and Clyde
city: London
country: United Kingdom
facility: Royal Brompton & Harefield NHS Foundation Trust
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Children NHS Foundation Trust
Study officials:
References: