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K31 Lega Italiana Ricerca Huntington (LIRH-rome) foundation as a network facilitator for assisting patients of italian origin: insight from Enroll-HD
  1. Sabrina Maffi1,2,
  2. Simone Migliore1,
  3. Massimo Marano1,2,
  4. Maurizio Stumpo3,
  5. Barbara D’Alessio1,
  6. Ferdinando Squitieri1,2
  1. 1Lega Italiana Ricerca Huntington e Malattie Correlate (LIRH) Foundation, Rome, Italy
  2. 2IRCCS Casa Sollievo della Sofferenza (San Giovanni Rotondo) and CSS-Mendel, Rome, Italy
  3. 3U.O. Neurologia Ospedale di Stato, San Marino Republic

Abstract

Background The Italian population is genetically heterogeneous with a variable HD frequency ranging around 11/100,000 individuals (Squitieri et al., 2016) and unusual haplotypes distribution. Enroll-HD represents an opportunity to monitor HD and to collect data and samples for research studies.

Aims To assist HD people following a model validated by research protocols.

Methods Data were collected according to the ethically approved Enroll-HD protocol at LIRH sites in Northern, Middle and Southern Italy.

Results Patients’ recruitment in Enroll-HD started in July 2014. At present, we have enrolled 329 subjects until May 2016, whose one-year follow-up was available for 177 of them. Our cohort included 278 gene positive (241 patients and 37 pre-manifest) individuals (84.5% of the whole samples), 37 genetically “unknown” subjects (mainly 50% at risk), five gene negative and 9 family member subjects (i.e. partners). Mean age at onset was 42.8 ± 12.2 years (range 10–83), thus including juvenile (<20 years), infantile (<10 years) and late onset (>60 years) cohorts. Onset symptoms included motors signs in 48.8%, mixed in 32.9%, psychiatric in 15.9% and cognitive in 1.9% cases. Suicide ideation occurred in 26.7%, calculated according to the C-SSRS scale activation. Mean repeat expansion number was 43.8 ± 4.9 CAG, spanning between low and high mutation size penetrance. Disease stage, according to the TFC scale score, ranged between 1 to 5.

Conclusions LIRH initiative aims to connect patients’ community with hospitals and research centres focused on HD. HD staging is critical to properly assist and address people to clinical trials. Our data may represent a fruitful basis for new potential genotype-phenotype correlations and epidemiological analyses in our population.

References

  1. Squitieri et al. Clin Genet 2016 Mar;89(3):367–70

  • Enroll-HD
  • Network
  • Clinics
  • Assistance
  • Observational analysis

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