Article Text

Download PDFPDF
H11 The lirh foundation HD observational studies: enroll-HD and HDclarity
  1. Ludovica C Busi1,
  2. Consuelo Ceccarelli1,
  3. Melissa Casella1,
  4. Maria Gabriele1,
  5. Sabrina Maffi2,
  6. Eugenia Scaricamazza2,
  7. Simone Migliore2,
  8. Maria Pia Abruzzese2,
  9. Federica Perrone2,
  10. Loris Belcastro1,
  11. Tommaso Mazza3,
  12. Barbara D’Alessio1,
  13. Ferdinando Squitieri1,2
  1. 1LIRH Foundation, Rome, Italy
  2. 2Huntington and Rare Diseases Unit, IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy
  3. 3Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy

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.

  • Enroll-HD
  • Plasma Collection
  • HD Clarity
  • LIRH Database

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.