4th International Summer School on Rare Disease and Orphan Drug Registries

Transcription

1 4th International Summer School on Rare Disease and Orphan Drug Registries Experiences with building and managing a registry: The Italian Cystic Fibrosis Patients Registry Marco Salvatore, National Center Rare Diseases Organised by Istituto Superiore di Sanità Rome (Italy), September 26-28, 2016

2 CF Patients Registry: identity card Why? How many information from a CF Registry? Aims?

3 Italian CF Patients Registry Established in 1988: probably is one of the first National official patients registry at European level Based on the agreement between the clinicians of the Italian National Referral Centers for Cystic Fibrosis (27 different Centers) and the Istituto Superiore di Sanità (National Center for Rare Diseases) InISSfrom2004:onSeptember2016newagreementhasbeensignedbyallparts Strong collaboration with European CF Registry: every year Italian CF Registry data are shared at European level

4 Italian CF Patients Registry: aims To contribute to the improvement in CF patients health care and clinical management through: the estimates of CF prevalence and incidence in Italy; the analyses of medium and long term clinical and epidemiological trends of the disesase; the identification of the main health care needs at regional, national and international level; the contribution to inclusion of patients in clinical trial for drug development/safety/efficacy (i.e. Ivacaftor, Orkambi); the contribute to the Health Care programs and to the distribution of resources.

5 ORGANIZATION: collaboration among different expertise/stakeholder Researchers from ISS, Clinicians from Refferal Centers, Representatives from Patients Association (Lega Italiana Fibrosi Cistica), Representatives from Italian Cystic Fibrosis Society 1. Technical Committee: help-desk, statistician, informatician, clinician 2. Scientific Commitee: geneticists (from ISS), clinicians (from ISS, Italian CF Society, Italian CF Refferal Centers), representative from the Italian CF Patients Association (Lega Italiana Fibrosi Cistica) 3. (at least) One conference call a month; 2 face-to-face meeting per year among all parts; participation to (four) Italian CF Society meetings (technical and scientific) and (two) European CF Society meetings (an Italian nominated member) many occasions to discuss and share information

6 Flow Chart Data sent by Italian CF centers ITALIAN QC data (TASK FORCE RIFC) Software CAMILLA NO Data OK? YES Data analysis EU Web QC interface Annual Report Ad hoc studies

7 Data collection and analyses are agreed at European level Year Data year of collection Publication of data IT EU IT EU ongoing (only 2013) ongoing ongoing (May) 2016 (July) - - Data QC, Analyses

8 Italian CF Patients Registry: data in brief (2010 published; under analysis) Patients included in ICF Patients registry YEAR 2010 YEAR 2011 YEAR 2012 YEAR 2013 YEAR 2014 M F Total M F Total M F Total M F Total M F Total N % 52,0 48,0 100,0 52,0 48,0 100,0 52,5 47,5 100,0 52,2 47,8 100,0 51,7 48,3 100,0 Median Age (yrs) 17,0 17,0 17,0 19,3 18,5 19,0 19,7 18,5 19,1 20,3 19,1 19,7 21,1 19,5 20,4 Patients 18 years aged N New Diagnosis N % 55,6 44,4 100,0 47,0 53,0 100,0 53,7 46,3 100,0 50,0 50,0 100,0 44,3 55,7 100,0 Median age at diagnosis (mths) 6,0 5,0 5,0 5,0 4,3 4,7 5,0 4,2 4,6 4,8 4,0 4,3 4,9 4,1 4,3 Death patients N % 47,1 52,9 100,0 28,9 71,1 100,0 53,7 46,3 100,0 45,5 54,5 100,0 51,0 49,0 100,0 Median age at death 27,0 24,0 25,0 32,9 31,1 32,0 35,0 27,3 31,0 27,6 29,9 29,4 35,3 32,4 35,3 Patients with [delta]508f mutation N % 67,7 66,9 67,3 69,1 68,8 69,0 68,5 68,8 68,6 68,4 68,4 68,4 67,8 68,4 68,0 Patients included in ECFPR N Increasing N of patients 2. Increasing N of deaths (maybe due to increasing number of compicance in transplants?) 3. Increasing median age at death (25 to 35 years) 4. Increasing N of >18 years aged patients

9 How data from Italian Cystic Fibrosis Patients Registry are analysed and used? 2010 Data published in 2015

10 2010 Report main sections Section 1 DEMOGRAPHY Section 2 DIAGNOSIS Section 3 NEW DIAGNOSIS IN 2010 Section 4 GENETICS Section 5 RESPIRATORY FUNCTION Section 6 NUTRITION Section 7 TRANSPLANTS Section 8 MICROBIOLOGY Section 9 MORTALITY

11 2010: RIFC in brief * Patients followed by 2 different Italian reference Centers ** Number of patients included in Italian registry differs those included in EU registry due to different inclusion criteria

12 Section 1: Demography 27CFReferralCentersFCsenttheirdatarefferedto2010

13 Section 2: Diagnosis Most part of patients (66.7%) is diagnosed within the first year of age Interestingly, a significative part of patients is diagnosed during adult age (11,4%). Screening represents the most important method of diagnosis (36,3%). «Other» stands for «familiarity, sympthoms, genetic tests, ect.»

14 Section 3: New Diagnosis in 2010 New diagnosis in 2010 were 168 A total of 105 patients were diagnosed within the first year of age: - 79 patients by newborn screening - 7 were negative to screening but were diagnosed within the first year of age by using other methods

15 Section 4: Genetics In 95.9% of patients, 2 (or more) CFTR mutations were identified. [delta]508f mutation was the most frequent (45.1%). Mutations with allelic frequency 1% (N. alleles=8,188). Mutazione N. % [delta]508f N1303K G542X G->A AA->G W1282X G->A R1162X G85E R553X D1152H

16 Section 7 - Transplans 20 patients(10 male; 10 female) were transplanted(lungs) in 2010 Age:11-46yearsold;medianage27.5years.

17 Section 8 - Microbiology Prevalence of the most common microbiological infections by age group

18 Section 9 - Mortality 2010: 34 patients died 9 patients after lung transpantation

19 Conclusions USE OF FEW standardized and clearly defined variables 1. to improve the quality and robustness of data 2. to facilitate comparison at national and/or international level EFFECTS Importance of SHARING DATA among different registries to contribute to international epidemiolgoy 1. uniformity and consistency of data at global level NEEDS Simply softwares to input and share data NEEDS