International confirmation of the number of HD affected in Italy (LIRH estimate)

A recent study confirmed HD epidemiology data in different Countries, including Italy, were the research was carried out by LIRH Foundation in 2016.

The study was published online in the international journal Neuroepidemiology and took into account the estimated number of diagnosed Huntington's disease patients in 2020 in 8 different Countries: the United States, Canada and 5 European Countries, including Italy. Of the 66,787 patients diagnosed with HD, 62-63% resulted in an early stage of the disease.

This innovative analysis took into account the prevalence estimate (i.e. how many living patients there are in a given territory) for the first time based on the disease stage and allowed data analysis thanks to ENROLL-HD, the research platform that represents the largest global registry for a rare disease. Through this model of analysis (number of patients included in ENROLL-HD based on the disease stage), the validity of the estimates carried out in some recent international studies has been confirmed, including the one concerning the prevalence estimate of Huntington's disease in Italy in 2016.

In Italy it is estimated a prevalence of about 11 people per 100,000 with a number of about 6500 sick individuals and over 30,000 at risk of getting sick, potentially carriers of a Huntington's disease mutation and still in a pre-symptomatic phase, without manifesting disease symptoms.

"It is necessary to conduct reliable epidemiological studies, in order to not underestimating the impact of Huntington's disease in our societies" says Professor Ferdinando Squitieri, Co-founder and Scientific Director of the LIRH Foundation, the Italian organization that supports, leads and promotes clinical and translational research and provides free assistance to thousands of families, in Italy and abroad, today also with the precious help of telemedicine.