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ACTIVE NOT RECRUITINGN/A

Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy

Sponsor: Tenaya Therapeutics

NCT ID: NCT05112237

View on ClinicalTrials.gov ↗

At a glance

What the study gets you
Health checks and monitoring — no treatment given
Type of study
Observational (no treatment given)
Time in hospital
In-person visits at study sites — visit count not specified by the sponsor
Drug or intervention
Not specified by the sponsor
How long the study runs
Study runs about 79 months (dates as stated)
About the drug or intervention
Not specified by the sponsor
Patient visit burden
Not specified by the sponsor
Type of study
Observing health over time
Ages
0 Years to 18 Years
Who
All
Number of participants
200
Started
2021-11-01
Last checked
2026-09

Plain English Summary

What is this study?

  • • Testing a new treatment for cardiomyopathy
  • • Clinical study - 200 participants
  • • 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)

Who can take part?

  • • Ages 0 Years to 18 Years
  • • Diagnosed with cardiomyopathy

Where?

  • • Glasgow - NHS Greater Glasgow and Clyde
  • • London - Royal Brompton & Harefield NHS Foundation Trust
  • • London - Great Ormond Street Hospital for Children NHS Foundation Trust

This is a simplified summary. Always discuss with your doctor before making any decisions.

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.

Cardiomyopathy

How this trial compares with your answers

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What we know so far

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Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.

Eligibility at a Glance

Key info

  • Age: 0 Years - 18 Years
  • Who can join: All genders

What the study is looking for

  • ✓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...

Who cannot take part

  • ✗Patient received heart transplantation or died \>10 years before study initiation. For homozygous or biallelic...
  • ✗Prospective
  • ✗Inclusion Criteria:
  • ✗For Infants:
  • ✗Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
See the full 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.

Where Is This Study? (3 UK sites)

NHS Greater Glasgow and Clyde

Glasgow G12 0XH, United Kingdom

Hospital R&D contact (matched)

Radek Penar

radoslaw.penar@nhs.scotn/a

Royal Brompton & Harefield NHS Foundation Trust

London SW3 6NP, United Kingdom

Hospital R&D contact (matched)

Main Email: gstt.research.rbhh@nhs.net

gstt.research.rbhh@nhs.netn/a

Great Ormond Street Hospital for Children NHS Foundation Trust

London WC1N 3JH, United Kingdom

Hospital R&D contact (matched)

Main Email: Research.Governance@gosh.nhs.uk

Research.Governance@gosh.nhs.uk0207 905 2700
Data sourced from ClinicalTrials.gov · Last verified: 2026-09