A clinical trial has tested a drug that was originally developed for the treatment of cancer in patients with progeria - a disease that affects children and causes premature aging - with satisfactory results.

Progeria is a deadly disease that is also known as Progeria syndrome of Hutchinson-Gilford (SPHG) and whose cause, discovered in 2003, is a genetic mutation that generates the progerin protein, responsible for the appearance of the pathology.

Children born with this mutation age and die early-the average age of death is 13 years-because progeria accelerates the onset of cardiovascular diseases that normally affect adults from 60 or 70 years but that , in this case, they occur in children of five years, who can suffer from a myocardial infarction to a stroke.

Children with Progeria showed significant improvement in several aspects such as weight gain, skeletal rigidity and, above all, in their cardiovascular system

The drug used in the study, which involved 28 children from 16 countries, and whose results have been published in 'Proceedings of the National Academy of Sciences', is a farnesyl transferase inhibitor (IFT) called lonafarnib. Progerin prevents cells from carrying out their functions normally, and for this purpose uses a molecule called 'farnesyl group' that binds to this protein. IFTs have the ability to block the binding of the 'farnesyl group' to progerin.

The research was developed in the Clinical and Translational Studies Unit of the Boston Children's Hospital, where children IFT lonafarnib was administered orally twice a day, and subjected to various tests and periodic tests to check its evolution, for two years. and a half.

The scientists found that the minors showed significant improvement in several aspects such as weight gain - thanks to the increase in muscle and bone mass - skeletal stiffness - which reached normal levels after the therapy - and, above all, in their system cardiovascular (improved vascular wall density and arterial stiffness was reduced by 35%).

The results of the study open a path of hope in the treatment of progeria and, since progerin also increases naturally with the age of people, continuing to investigate the effect of IFT on this protein will help to better understand the process of aging in humans, as well as cardiovascular diseases associated with age.

Source: Progeria Research Foundation (PRF)

First-ever Therapy to Demonstrate Survival Benefit in Progeria (November 2019).