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 <malattierare@pediatria.unipd.it> 26 ottobre 2010 13:36A: segreteria.pediatria@ulssvicenza.it, segoculisticatv@ulss.tv.it, segpedtv@ulss.tv.it, giancarlo.caprioglio@ulss12.ve.it, oculistica_csp@ulss15.pd.it,oculistica.osa@sanita.padova.it, brunetta.francescon@sanita.padova.it, pensiero@burlo.trieste.it, manfant@hotmail.com, francescamenchini@gmail.com,lanzetta.paolo@aoud.sanita.fvg.it, patrizia.busatto@gmail.com, jorsoni@unipr.it, francesco.parmeggiani@unife.it, roberto.bellucci@azosp.vr.it, attilio.boner@univr.it,marco.zaffanello@univr.it, ivana.zuliani@asbz.it, helga.pernter@asbz.it, giorgio.marchini@univr.it, adriana.bonora@ospedaleuniverona.it, pinello@pediatria.unipd.it,giovanni.prosdocimo@ulss7.it, bonandini.mario@azisanrovigo.it, elisabetta.bohm@ulss12.ve.it, marzio.chizzolini@libero.it, diego.ponzin@fbov.it,edoardo.midena@unipd.it, giorgio.tassinari@ausl.bologna.it, sergio.scalinci@unibo.it, adolfo.sebastiani@unife.it, p.arvedi@ausl.pc.it, cavallini.gianmaria@unimore.it,cappuccini.luca@asmn.re.it, P.Cassinari@ausl.pc.itCc: Paola Facchin <facchin@pediatria.unipd.it>, Claudio Castellan <claudio.castellan@asbz.it>, annunziata di palma - UO pediatria Trento <nunzia.dipalma@apss.tn.it>,Pedrolli Annalisa <Annalisa.Pedrolli@apss.tn.it>, bembi.bruno@aoud.sanita.fvg.it, erozzi@regione.emilia-romagna.it, Volta Matteo <MaVolta@regione.emilia-romagna.it>

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

francesco.parmeggiani@unife.it