A pilot clinical trial with losartan in Myhre syndrome.

ABSTRACT:

Introduction

Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-β pathway and extra-cellular matrix (ECM) homeostasis. Main clinical features of MS include thickening of skin and joint stiffness. Previous studies showed that losartan improved ECM deposition in MS fibroblasts.

Materials and methods

Four molecularly confirmed MS subjects (mean age 23.8 ± 17 years) were evaluated for: (a) skin thickness by Rodnan score, (b) joint range of motion (ROM) by goniometry, and (c) speckle-tracking echocardiogram. Following baseline evaluations, three MS individuals received losartan for 12 months and pre-defined endpoints were monitored after 6 and 12 months of treatment.

Results

At baseline, Rodn

SUBMITTER: Cappuccio G 

PROVIDER: S-EPMC7898344 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature