Towards the National Network of Services for Italian patients Towards the National Network of Services for Italian patients
with inherited eye diseaseswith inherited eye diseases
Center for Retinitis Pigmentosa of the Veneto RegionCenter for Retinitis Pigmentosa of the Veneto RegionCivil Hospital of CamposampieroCivil Hospital of Camposampiero
Francesco ParmeggianiFrancesco Parmeggiani
DISCLOSURE INFORMATIONMeeting: 7th SIOG Congress, Naples, Italy - 20-21 October 2017Speaker: Prof. Francesco Parmeggiani Consultant of the Center for Retinitis Pigmentosa of the Veneto Region for the University of FerraraRepresentative of the Center for Retinitis Pigmentosa of the Veneto Region in the ERN-EYEI have no financial relationship to disclose for this presentation
The RP Center of the Veneto The RP Center of the Veneto
Region works inside the Region works inside the
Operative the Civil Hospital of Operative the Civil Hospital of
CamposampieroCamposampiero
Healthcare Provider:Healthcare Provider:
Azienda ULSS 6 Azienda ULSS 6 EuganeaEuganea of of
Padova in the NorthPadova in the North--East of ItalyEast of Italy
Presentation of the RP Center of the Veneto RegionPresentation of the RP Center of the Veneto Region
Since 2004 the RP Center has been established asSince 2004 the RP Center has been established as
Clinical and Rehabilitative Outpatient ServiceClinical and Rehabilitative Outpatient Service
for patients with Retinal Rare Diseases by a Resolution of the Vfor patients with Retinal Rare Diseases by a Resolution of the Veneto Region, according eneto Region, according
to the National Law 284/1997 to the National Law 284/1997 ““Regulations for the prevention of blindness and visual Regulations for the prevention of blindness and visual
rehabilitationrehabilitation””
Veneto RP CenterVeneto RP Center
DELIBERAZIONE DELLA GIUNTA REGIONALE n.4095 del 30 dicembre 2003
Disposizioni per la prevenzione della cecità e per lariabilitazione visiva e l’integrazione sociale e la vorativadei ciechi pluriminorati - L. 28.08.1997, n. 284. Centrispecializzati ex articolo 1 per la costituzione di u na retedi servizi coordinati a garanzia degli interventi i n mate-ria di cecità ed ipovisione.
Veneto RP Center and ERNVeneto RP Center and ERN--EYE StructureEYE Structure
Since 2008 the RP Center has been also assisted by specialized pSince 2008 the RP Center has been also assisted by specialized personnel of the ersonnel of the
Eye Clinic of the University of Ferrara thanks to a specificEye Clinic of the University of Ferrara thanks to a specific
Convention for the Institutional Research on Retinal Rare DiseasConvention for the Institutional Research on Retinal Rare Diseases of the es of the
Department of Biomedical and Specialty Surgical SciencesDepartment of Biomedical and Specialty Surgical Sciences
Veneto RP CenterVeneto RP Center
CONTRATTO PER ATTIVITA’ DI RICERCA DI CARATTERE IST ITUZIONALE
tra
L’AZIENDA U.L.S.S. 15 “ALTA PADOVANA” DI CITTADELLA (PD)
e
L’UNIVERSITÀ DEGLI STUDI DI FERRARA – DIPARTIMENTO DI SCIENZE BIOMEDICHE E
CHIRURGICO SPECIALISTICHE
The main mission of the RP Center is to provide for aThe main mission of the RP Center is to provide for a
PatientPatient--Centered ServiceCentered Service
specifically dedicated to the midspecifically dedicated to the mid-- or longor long--term taketerm take--inin--chargecharge
of patients with inherited retinal dystrophies (IRD), as well asof patients with inherited retinal dystrophies (IRD), as well as of their family membersof their family members
Mission and Patient CohortMission and Patient Cohort
231 276 293 338 395 470 482 478 608
278 315 335 379 437 525 538 528 659
598 669 749 794 904 1099 1167 1189 1563
0
200
400
600
800
1000
1200
1400
1600
1800
2008 2009 2010 2011 2012 2013 2014 2015 2016
PATIENTS VISITS REHAB PRESCRIPTIONSIn the last years, the In the last years, the
patients with IRD firstly patients with IRD firstly
diagnosed or periodically diagnosed or periodically
monitored at our Center monitored at our Center
continuously increasedcontinuously increased
arriving at the number of arriving at the number of
608 cases in 2016, when 608 cases in 2016, when
the extrathe extra--regional patients regional patients
have reached the 15% of have reached the 15% of
our cohortour cohort
PATIENTS PER YEAR
VISITS PER YEAR
REHAB PRESCRIPTIONS PER YEAR
VIS
ION
AID
SA
RG
US
2N
MC
LE
NS
OrganogramOrganogram of Veneto RP Centerof Veneto RP Center
Clinical Practice and Register of Rare Diseases (RD) Clinical Practice and Register of Rare Diseases (RD)
In the last years, several parts of In the last years, several parts of
our clinical practice have been our clinical practice have been
progressively performed using the progressively performed using the
InterInter--Regional RD Register of the Regional RD Register of the
Veneto Region managed by the Veneto Region managed by the
University of Padova via anUniversity of Padova via an
Intranet HTTPS platform shared Intranet HTTPS platform shared
by 9 Italian Regions by 9 Italian Regions
Rare Diseases Register
Veneto Region
inclusive of about 25 millions of Italian people with an
estimated number of over 6.200 patients with RP
considering a disease’s prevalence of
1:4000 in the general population
> 90.000 certified patients
> 47.000 therapeutic plans
> 122.000 prescriptions
> 48.000 dispensations
> 61.000 dispensed products
Starting from 2004Starting from 2004
RP Center has performed overRP Center has performed over
800 certifications of Rare Eye Disease (RED)800 certifications of Rare Eye Disease (RED)
in patients with different IRD formsin patients with different IRD forms
utilizing the RD Register of the Veneto Regionutilizing the RD Register of the Veneto Region
Rare Diseases Register
Veneto Region
11
Starting from 2011Starting from 2011
RP Center has performed overRP Center has performed over
5.000 free5.000 free--delivered personalized therapeutic plansdelivered personalized therapeutic plans
in about 700 IRD patientsin about 700 IRD patients
utilizing the RD Register of the Veneto Regionutilizing the RD Register of the Veneto Region
THESE OFF-LABEL PRESCRIBTIONS OF DRUGS OR
SUPPLEMENTS
HAVE NOT TO BE NECESSARILY CARRIED OUT ON THE
BASIS OF MAXIMAL EBM LEVELS AND THUS ARE DEFINED
AS EXTRA-LEA PRESCRIBTIONS, I.E.
NOT INCLUDED IN THE NORMAL ESSENTIAL STANDARDS
OF ASSISTANCE
Rare Diseases Register
Veneto Region
22
Vit A + DHA NSAIDLutein IAC
Gruppo di Lavoro Malattie Rare Oculari
Malattie Rare <[email protected]> 26 ottobre 2010 13:36A: [email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected], [email protected], [email protected], [email protected], [email protected],[email protected], [email protected]: Paola Facchin <[email protected]>, Claudio Castellan <[email protected]>, annunziata di palma - UO pediatria Trento <[email protected]>,Pedrolli Annalisa <[email protected]>, [email protected], [email protected], Volta Matteo <[email protected]>
Alla c.a. Referenti del Gruppo di Lavoro sulle malattie rare Oculari Come noto il giorno 9 luglio scorso si è svolta la riunione di insediamento del Gruppo di Lavoro sulle malattie rare Oculari, composto dai responsabilidei Centri di riferimento della Regione Veneto, le Province autonome di Trento e Bolzano, il Friuli Venezia Giulia e la Regione Emilia Romagna per le malattie rare oculari o loro delegati nominati. Ringraziando quelli che hanno inviato i questionari compilati con le proposte per i trattamenti extraLEA si invia il file riassuntivo in cui sono state inserite tutte le proposte degli specialisti senza apportare alcuna modifica.Si fa presente che è stata inserita della bibliografia nel sito "Coordinamento Regionale" all'indirizzo https://malattierare.intra.rve. In ogni scheda dipatologia sono state inserite le proposte giunte dagli specialisti. Potete commentare le proposte direttamente nel sito inserendo il vostro parere, seavete della documentazione da condividere con gli altri la potete inviare a noi, provvederemo alla pubblicazione nel sito.Si comunica che la prossima riunione è convocata per il giorno 12 novembre 2010 alle ore 14.30 presso la sede del Coordinamento RegionaleMalattie Rare del Veneto, Via Donà 11, 35129 Padova.Si rimane a disposizione per ogni eventuale chiarimento. Cordiali saluti ______________________________ _______________________Coordinamento Regionale per le Malattie Rare - Regione VenetoRegistro Malattie Rare - Regione VenetoUnità di Epidemiologia e Medicina di Comunità
Dipartimento di Pediatria Università di PadovaTel. 049/8215700Fax: 049/8215701
proposte_Centri_accreditati.pdf83K
Rare Diseases Register
Veneto Region
Rare Diseases Register
Veneto Region
Rare Diseases Register
Veneto Region
Starting from September 2017Starting from September 2017
RP Center has also carried outRP Center has also carried out
freefree--delivered rehabilitation plans in patients with RED but delivered rehabilitation plans in patients with RED but
without any legal, blindnesswithout any legal, blindness--related, reimbursement statusrelated, reimbursement status
utilizing the RD Register of the Veneto Regionutilizing the RD Register of the Veneto Region
PENDING APPROVAL BY THE REGIONAL TECHNICAL
GROUP FOR RARE DISEASES
Rare Diseases Register
Veneto Region
33
Starting from the next 6Starting from the next 6--9 months9 months
RP Center will also begin to manage the clinical data of RP Center will also begin to manage the clinical data of
RED patients inside ofRED patients inside of
electronic Case Report Forms (electronic Case Report Forms (eCRFeCRF))
available at the RD Register of the Veneto Regionavailable at the RD Register of the Veneto Region
Rare Diseases Register
Veneto Region
44
Rare Diseases Register
Veneto Region
eCRFeCRF in which will be insertedin which will be inserted
both phenotypic and genotypic databoth phenotypic and genotypic data
in order to define family pedigrees, hereditary in order to define family pedigrees, hereditary
transmission and procreative risktransmission and procreative risk
Genetic ResearchUniversity of Padova
at present, this weakat present, this weak--point of ours has been just partially point of ours has been just partially
compensated by a research collaboration with Department of compensated by a research collaboration with Department of
Molecular Medicine of University of Padova to investigate on Molecular Medicine of University of Padova to investigate on
genotypegenotype--phenotype correlations in XLphenotype correlations in XL--RP pedigrees with RP pedigrees with
apparent AD inheritance apparent AD inheritance
LOOK FORWARD TO THE INDICATIONS OF VENETO REGION ABOUT AN
HEALTHCARE SERVICE OF MOLECULAR GENETICS TO COMPLETE THE
PATHWAY OF OUR PATIENTS WITH IRD IN THE NEXT FEW MONTHS
44
Conclusions Conclusions -- RP Center of the Veneto RegionRP Center of the Veneto Region
�� represents a consolidated landmark for a lot patients with RED,represents a consolidated landmark for a lot patients with RED,
being able to perform a comprehensive takebeing able to perform a comprehensive take--inin--charge of these charge of these
persons responding to for his/her queries, even if no service ofpersons responding to for his/her queries, even if no service of
molecular genetics is currently activatedmolecular genetics is currently activated
�� routinely recommend the best strategies of good rehabilitative routinely recommend the best strategies of good rehabilitative
practice to optimize the quality of vision in each RED patient, practice to optimize the quality of vision in each RED patient,
especially by the systematic use of personalized nanometerespecially by the systematic use of personalized nanometer--
controlled filtering lenscontrolled filtering lens
�� holds a longholds a long--time experience of collaboration with an advanced time experience of collaboration with an advanced
Rare Disease Register able to support a shared standardization Rare Disease Register able to support a shared standardization
of those crucial steps for an appropriate management of RED of those crucial steps for an appropriate management of RED
patients, such as RD certification, therapeutic and rehabilitatipatients, such as RD certification, therapeutic and rehabilitative ve
plans, phenotypic and genotypic data collectionplans, phenotypic and genotypic data collection
Thanks for your attentionThanks for your attention
and see you soon at the next meeting on ocular rare diseasesand see you soon at the next meeting on ocular rare diseases