Enroll - HD is the most extensive collection of data, information and biological samples never planned for any rare disease before today.
It is an 'observational' study, meaning that no experimental drug is provided to participants. It is a "global international study ", involving 14 Countries and 135 enrolling organizations, including LIRH Foundation.
The study is sponsored by CHDI Foundation, based in the US.
More than 20,000 people are planned to participate in the study over the next five years .
Enroll - HD has three main objectives:
- To understanding the disease natural history;
- To encourage patients participations in clinical trials;
- To bring out the best clinical practices.
Who can participate?
Gene carriers, at-risk individuals who have not been tested, unrelated partners and children under 18, but only if symptoms occur.
What does participation in Enroll-HD imply?
Medical and psychological monitoring; behavior, movement , emotional status and quality of life evaluation; blood test (which is NOT a genetic test, but will be used by researcher ì to understand the biological changes that occur in life). Follow-up visits are requested every year.
Tracing participants' identity is impossible.
A partial refund of participation costs is provided by the study.
LIRH Foundation actively contributes to Enroll-HD in its sites throughout the Country, with its trained staff. Currently, LIRH is the number 3 in the world for its contribution in participants recruitment.
At June 1, 2016 10.707 participants from 135 organizations (14 Countries) were enrolled: 5.782 in Europe (Denmark , Germany, Poland, Ireland, Italy, Netherlands, Spain and UK): 4.341 in North America (USA and Canada ); 442 in Australasia ( Australia and New Zealand ); 142 in Latin America (Argentina and Chile ). As for Italy, LIRH enrolled 345 participants, the highest number in our Country.
'Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy'; this research, published in 2015 on 'Clinical Genetics,' was conducted by Ferdinando Squitieri, MD, PhD - LIRH scientific director - and represents the first estime of HD cases in Italy after the gene discovery, in 1993.
The latest epidemiological survey was conducted, in fact, in restricted areas of northern Italy before the gene discovery and reported a prevalence of people with the 2.3 - 4.0 individuals per 100,000 inhabitants.
The new study was conducted in Molise region, which is very small and where there was only one HD Centre. As a result, we documented a prevalence of 10.85 per 100,000 people affected, much higher than the previous. The survey also revealed a projection for the future: it is reasonable to expect an increase of an additional 17% of patients - compared to about 6,500 currently estimated in Italy - by 2030, because of longer lives in the Italian population. These data - probably still underestimated - stand as a milestone in the epidemiology of Huntington's Disease and, at the same time, provide an important 'call to action' for Italian central and regional health Institutions.
Experimental Drug Trials
Our role in such clinical trials can be summarized as follows:
- on one hand, we inform patients on trials, endpoints, inclusion and exclusion criteria, duration etc;
- on the other hand, we facilitate the participation costs reimbursement process .
'Open-Pride' and 'Legato-HD' are the studies we are currently dealing with.
Research Results Dissemination
We do that in several ways: conferences, newsletter, website, video, social media, direct mailing, one-to-one communication, toll free number.