Scientists at the Université de Montréal and CHU Sainte-Justine Research Cente are said to have made a discovery, which could be a promising treatment for patients with Noonan Syndrome.
What is Noonan Syndrome?
Noonan syndrome is a genetic disorder characterized by congenital heart disease, short stature, unusual facial features, a broad and webbed neck and a host of potential health conditions. Nearly 80% of the infants with Noonan syndrome are said to have heart defects such as pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, or ventricular septal defect.
Infants with Noonan syndrome, accompanied by hypertrophic cardiomyopathy and congestive heart failure normally have a poor prognosis, resulting in significant early mortality. (Source: NORD).
Noonan Syndrome is a *RASopathy disorder. (*RASopathy disorders refer to a group of developmental syndromes caused by mutations in genes belonging to the RAS/MAPK pathway. - Source: The University of Nebraska Medical Center).
Groundbreaking Study
The study involved two Noonan syndrome infants with heart defects.
In the new study, the two patients were treated with Trametinib, a targeted therapy for advanced melanoma, sold under the brand name Mekinist. In melanoma patients, Mekinist works by inhibiting the action of MEK protein kinase, thereby blocking the effect of BRAF mutations that promote cancer growth.
Promising Results
According to the researchers, there was a significant improvement in the clinical and cardiac status of the Noonan syndrome patients just three months after treatment.
Hypertrophy regressed in both the patients, with sustained improvement over a total of 17 months of treatment. One of the patients, who required ventilation, could be taken off the ventilator after six weeks of treatment. Both patients showed better overall growth after treatment was started, said the researchers.
What Next?
Since the present study involved only two patients, a proper clinical trial with a larger number of participants is required to prove that Trametinib is effective in treating Noonan syndrome patients with heart defects.
Commenting on the groundbreaking research, the study's author, Gregor Andelfinger, said, "Up to this finding, our therapeutic options were limited to surgery, including heart transplant, and symptomatic relief with medication. Trametinib treatment is the first approach specifically targeted to the molecular cause of RASopathies."
The research findings are published in the Journal of the American College of Cardiology.
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