H11 The lirh foundation HD observational studies: enroll-HD and HDclarity. (12th September 2022)

• Record Type: Journal Article
• Authors: Busi, Ludovica C; Ceccarelli, Consuelo; Casella, Melissa; Gabriele, Maria; Maffi, Sabrina; Scaricamazza, Eugenia; Migliore, Simone; Abruzzese, Maria Pia; Perrone, Federica; Belcastro, Loris; Mazza, Tommaso; D'Alessio, Barbara; Squitieri, Ferdinando
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93(2022)Supplement 1
• Page Start: A67
• Page End: A67
• Publication Date: 2022-09-12
• Subjects: Enroll-HD -- Plasma Collection -- HD Clarity -- LIRH Database; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-ehdn.175
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Background: LIRH Foundation in Rome is an Enroll-HD site since July 2014. Our clinical database, together with the partnership with 4 HD family associations that became our members enabled us to establish several outpatients clinics across Italy, e.g. Milan, Rome, Campi Bisenzio (Florence), San Giovanni Rotondo (thanks to the agreement with IRCCS Casa Sollievo della Sofferenza Hospital) and Catania. Aim: To involve patients and their families into research programs by providing free of charge care and by promoting communication/advocacy/patients' engagement initiatives. Methods: ENROLL-HD protocol, LIRH-clinical database and Site Metric Card. Results: To date, there are >4000 contacts in our database. We recruited 1042 participants into ENROLL-HD: 106 are last 12-month new recruitments, 625 are manifest, 78 premanifest HD subjects. We also recruited 82 mutation negative, 87 family controls and 168 with unknown genetic condition individuals. Our whole cohort of 36-79 CAG mutation carriers includes juvenile-onset (n=15) and paediatric HD (n = 5, with CAG >80) patients. These last two categories can also include non-Italian, but English-speaking, patients since 2022. According to the metric card, we have a follow-up compliance of 91.4%. Our cohort of Enroll-HD participants allowed us to contribute with 433 plasma samples (since June 2021) and 47 CSF samples in HDClarity (since October 2019). Conclusion: This represents the basis to seek new population-dependent and correlation-based relationships among clinical, environmental and genetic factors. The continuous requests of new visits and the increasing number of participants in all our clinical studies made us think that we are on the right path.