MEK inhibitor for severe infantile heart failure in Noonan and related RASopathies
Official title: 2/2 Clinical Trial of a MEK Inhibitor for RASopathy-Associated Severe Infantile Hypertrophic Cardiomyopathy
Funded at New England Research Institutes, INC. · NIH-11351068 · Data updated 2026-11-12
A 12-month, multi-site trial tests whether the medicine trametinib can help infants with life-threatening heart failure due to Noonan syndrome and related genetic conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New England Research Institutes, INC. NIH-funded |
| Lab location | 1 site (Wilmington, UNITED STATES) |
| Project start | September 7, 2026 |
| Project end | August 31, 2032 |
| Funding year | 2026 |
| Award (this year) | $806,069 |
| NIH project number | 1U24HL185609-01 |
| Project ID | NIH-11351068 on NIH RePORTER |
Who could benefit from this research
✓Could help
Infants under 6 months with Ross Class III or IV heart failure due to molecularly confirmed RASopathy-related hypertrophic cardiomyopathy.
✕Less likely to help
Infants without the specific genetic and clinical criteria or with contraindications to trametinib may not benefit and could experience harms.
What this research studies
Infants under 6 months with severe heart muscle thickening from RASopathies may receive trametinib in a 12-month Phase 3 trial across multiple Pediatric Heart Network sites. The study compares outcomes to real-world data from infants who receive standard care, monitoring for safety and effectiveness, with an additional 12-month follow-up after stopping the drug and potential re-treatment if heart disease relapses. Researchers will use established clinical trial infrastructure and data coordination to track survival, heart function, and need for heart transplant or surgery. The goal is to see if trametinib improves the main outcomes in this very vulnerable population, with careful management of possible skin-related adverse effects. Participation includes heavy monitoring and follow-up to determine durable benefits and safety in infancy.
Why it matters
Potential benefit: If successful, the trial could improve survival and heart function for infants with life-threatening HCM due to RASopathies.
How similar studies have gone: Prior data from preclinical and retrospective studies suggested trametinib could help, but this is a rigorous prospective trial to confirm benefit.
Where this research is happening
-
New England Research Institutes, INC.
Wilmington, United States Active
Researchers
- Principal investigator: Miller, Julie Elaine — New England Research Institutes, INC.
- Study coordinator: Miller, Julie Elaine
Related research
Other NIH-funded projects on the same topics.
-
SGLT inhibitors for non-obstructive hypertrophic cardiomyopathy
A testing of a diabetes drug class (SGLT2 inhibitors) to help people with non-obstructive hypertrophic cardiomyopathy feel better and reduce heart-related problems.
-
Using big biobanks to understand rare gene changes in hypertrophic cardiomyopathy
A large study will look at genetic data and health information from many people to better understand how rare gene changes influence hypertrophic cardiomyopathy and its risks.
-
Understanding heart disease in hypertrophic cardiomyopathy through heart tissue and blood analysis
Researchers are studying people with hypertrophic cardiomyopathy to see how genes and signaling in heart tissue and blood relate to disease progression and risk of serious heart problems.
-
Myosin binding protein C variants and heart disease
A doctor-scientist at the University of Michigan is studying how certain genetic changes in a heart protein (MYBPC3) cause hypertrophic cardiomyopathy and whether fixing the protein or its interactions could help people with this condition.
-
MEK inhibitor shows promise for serious infant heart disease in Noonan/RASopathies
A multi-site study tests whether the drug trametinib can help infants with severe heart muscle thickening caused by Noonan syndrome and related RASopathies.
-
Boosting heart cell energy in hypertrophic cardiomyopathy
New approaches to improve mitochondrial energy in heart cells for people with hypertrophic cardiomyopathy.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.