Who are we?
Gerarda Cappuccio, MD, PhD and Nicola Brunetti-Pierri, MD

Where do we work?
Federico II University of Naples & Telethon Institute of Genetics and Medicine, Italy

How do we see people?
Medical Genetics, Federico II University Hospital

What inspired this article?
Our previous work that showed improved extracellular matrix deposition in cells of Myhre syndrome patients treated with losartan.

What is the name of the article?
“A pilot clinical trial with losartan in Myhre syndrome”

What is the name of the journal?
American Journal of Medical Genetics; 2021 Mar;185(3):702-709.

What is important?
In this paper we report the outcomes of a pilot clinical study in which we enrolled four patients with Myhre syndrome and evaluated their skin thickness, joint mobility, and cardiac fibrosis as potential endpoints to monitor the disease over time and to investigate the efficacy of new treatments. We found that Myhre syndrome patients have increased skin thickness, reduced joint mobility, and reduced myocardial strain. Three patients with Myhre syndrome were then treated with losartan and they showed improvements in skin thickness, joint mobility and to a lesser extent of myocardial strain. Although further long-term controlled clinical trials with a larger number of affected individuals are needed, the present study suggests that losartan might improve skin, joint and heart abnormalities of Myhre syndrome.

What has been the impact?
It is too early to measure the impact of this is a preliminary but encouraging pilot clinical trial.

How would you like to continue this research (if funding was not an issue?)
We would like to continue this research with a long-term controlled clinical trial with a larger number of affected Myhre syndrome individuals. However, further funding would be needed to conduct this trial.