The phase 2A Pivot-HD clinical study for Huntington disease starts today in Italy
PTC518 is a small molecule capable of reducing the protein that causes Huntington's disease.
Pivot-HD: new hope for the treatment of Huntington Disease
PTC518 is a small molecule capable of reducing the protein that causes Huntington's disease (HD).
The screening of the first group of Italian participants in the Pivot-HD study is scheduled to begin today at the Huntington and Rare Diseases Unit of Casa Sollievo della Sofferenza Research Hospital (CSS), Coordinating Center for Italy, under the direction of the neuroscientist Ferdinando Squitieri, LIRH Foundation Scientific Director, Head of the Huntington and Rare Diseases Unit at IRCCS CSS and Head of Neurology at Mendel Institute in Rome.
PIVOT-HD is a phase 2 clinical study to verify the safety, tolerability, dosage and test a first level of efficacy of PTC518, a molecule selected from over 300,000 for its ability to overcome the blood-brain barrier and reach also the periphery, with the aim of reducing levels of the mutant huntingtin (mHTT) protein, the cause of HD.
The mechanism in brief: the PTC518 molecule fits between two exons (the functional parts of the DNA) and prevents the RNA (a sort of 'photocopy' of the DNA) from translating the mutated protein, thus interfering with a mechanism called 'splicing', which serves to eliminate the non-functional parts (those that are not translated) of the gene.
Mutant huntingtin (mHTT) is responsible for the alteration not only of tissues of the central nervous system, but also of metabolic aspects and of the function of peripheral organs, an aspect often overlooked in the study, and also in the clinic, of Huntington's disease.
The main objective of PIVOT HD is to verify the safety and tolerability of PTC518, verifying its ability to reduce the levels of the mutated protein both in the brain and in the peripheral organs. The experimental molecule is administered orally and has not shown any unexpected side effects to date.
“Among the trials that intend to act directly on the cause of the disease, reducing huntingtin levels, this one - promoted by PTC Therapeutics - is currently the most eagerly awaited for at least three reasons: 1) it is the one in the most advanced phase of the study and so far without adverse events, 2) it is taken orally, 3) it reaches not only the brain but also the peripheral organs, where the disease is more subtle and less recognizable. I am thrilled to start this adventure as head of the Coordinating Center for Italy" - says the neuroscientist Ferdinando Squitieri.
The study is currently being conducted in Australia, Europe (Austria, France, Germany, Italy, Spain, the Netherlands, UK), New Zealand and the United States.
“As and more than other times, in this trial the contribution of the LIRH Foundation will be fundamental, not only in terms of communication and participants' involvement, but also in relation to the execution of a significant part of the study protocol activities. We are confident that this could represent a new opportunity to give reasonable hope to the many families living with this difficult rare disease. We will share updates on December 2, at the LIRH Annual Conference in Rome” – says Barbara D’Alessio, President and Executive Director of the Italian Huntington Research League.
Click HERE to learn more (Italian).
Click HERE for the recent press release from PTC Therapeutics (English).