AI Article Synopsis
- - The study assessed how trametinib, a RAS-MAPK pathway inhibitor, affects difficult-to-treat chylous effusions in three hospitalized patients with Noonan syndrome.
- - All patients exhibited significant improvements, including reduced lymphatic leaks and better overall health indicators such as growth, heart function, and blood health after undergoing MEK inhibition treatment.
- - While trametinib was generally safe, causing only mild skin irritation in one patient, more extensive studies are necessary to further confirm its effectiveness and long-term safety for this group.
Article Abstract
Objective: To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically refractory chylous effusions in 3 hospitalized patients with Noonan syndrome.
Study Design: Pharmacologic MEK1/2 inhibition has been used to treat conditions associated with Noonan syndrome, given that activation of RAS-MAPK pathway variants leads to downstream MEK activation. We describe our experience with 3 patients with Noonan syndrome (owing to variants in 3 distinct genes) and refractory chylous effusions treated successfully with MEK inhibition. A monitoring protocol was established to standardize medication dosing and monitoring of outcome measures.
Results: Subjects demonstrated improvement in lymphatic leak with additional findings of improved growth and normalization of cardiac and hematologic measurements. Trametinib was administered safely, with only moderate skin irritation in 1 subject.
Conclusions: Improvements in a variety of quantifiable measurements highlight the potential utility of MEK1/2 inhibition in patients with Noonan syndrome and life-threatening lymphatic disease. Larger, prospective studies are needed to confirm efficacy and assess long-term safety.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jpeds.2022.05.030 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!