Telethon, researchers andpatient associations: working together to supportscientific research

Danila Baldessari

Research program manager

Scientific Office Fondazione Telethon

Harmonize Williams

Syndrome

in EuropeRome, 17th October

2015

SUMMARY

• Telethon since 25 years• Mission and Vision

• Strategy and Excellence

• The «ladder of research» and the collaborative model to climb it

• Focus: Telethon-funded research on Intellectualdisabilites

2Harmonize Williams Syndrome in Europe

Vision

To make available as therapies the results of the excellent research selected and sustained over time

Mission

To advance biomedicalresearch towards the treatment of geneticdiseases

Telethon since 1990

3Harmonize Williams Syndrome in Europe

Our choice: to fund research on rare genetic diseases

neglected by major public and private investments

The virtuous circle

Society

• The «need» and the «object»

• Legitimacy

• Support

• Strategy

• Merit

• Efficiency

Transparency,Comunication

• to verify

• to report

• to fulfil the promise

4Harmonize Williams Syndrome in Europe

161 M€ Investment302 Grants

Intramural research

Telethon Institute of Genetics and Medicine Napoli

HSR-Telethon Institute of Gene Therapy Milano

Dulbecco Telethon InstituteCareer Program

Steering and management

The strategy: a broad portfolio of fundinginitiatives

Key facts 1990-2014

423 M€ Research investment

2.532 Research grants

1.547 Researchers funded

450 Genetic diseases studied

262 M€ Investment2.230 Grants

Extramural research

IL RUOLO DI TELETHON

Funding and support

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RESEARCH PROJECTS•General projects•Neuromuscular clinical projects - UILDM•Program projects•Exploratory projects•Collaborative projectsGenetic Biobanks

Alleanze internazionali

InternationalRare Diseases Research Consortium

Harmonize Williams Syndrome in Europe

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The method: Merit’ selection leading to successful results

Merit’ selection: “Peer review” process

Results of the fundedresearch:

excellent publications

Call for projects, research program managers,

Scientific Committee, External Reviewers,

Plenary discussion

(research projects 2015: 273 33 funded)

1991-2013: 9644 publications world-widerecognized (2013: 577 publications).

Citation index > Oxford (UK), NIH (USA), MRC(UK); Harvard (USA), Stanford (USA), Yale (USA)

Harmonize Williams Syndrome in Europe

The goal: to climb the research ladder

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Each research step not only is necessary for the development of a therapy but also itcan lead to a direct improvement of the quality of life

THERAPIES

BASIC RESEARCHGene Identification - study of the molecular disease’s mechanism

PRECLINICAL RESEARCHIn vitro and in vivo models (laboratory, animal models)

CLINICAL TRIALS Safety and efficacy tested on patients

DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES

Harmonize Williams Syndrome in Europe

The collaborative model: commitment of the stakeholders

Basic ResearchPre-clinical Research

Pre-clinical Development

Research Development Delivery

Public Funds

Patients

Associations

Telethon

Gap competenciesand funds

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Clinical trials

Therapy production and and fruibility

Harmonize Williams Syndrome in

Europe

Pharmaceutical

Industry

The Telethon galaxy of activities

9Harmonize Williams Syndrome in

Europe

Scientists

Biobanks

Registries

Trial Readiness

Filo Diretto

Partnership

Empowerment

Researchdevelopment

Industrial Partnerships

Researchprojects

Fonte: TRic database, Telethon, Maggio 2015

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Telethon Research on intellectual disabilities

SINCE 1991 Williams syndrome200 Research Projects 7 (1 Career)174 Scientists PI 671 Research Centres54 Diseases studied35.275.614 € Investment 2.000.000 €

PROJECTS ON41 Research projects 262 PI 335 Research Centres10.969.166 € Investment

SCIENTIFIC RESULTS1003 publications 30 on WS38.759 total citations15,4 avarage citations 2010-2014

Harmonize Williams Syndrome in Europe

68,3%

7,6%

6,2%

14,5%

THERAPY

IDENTIFICATION OF GENETIC DEFECT

SUDY OF MECHANISMS

PRE-CLINICAL STUDY IN CELL MODELS

DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES

CLINICAL TRIAL

PRE-CLINICAL IN ANIMAL MODELS

3,4%

Funds distribution (% total)

Take home message

11Harmonize Williams Syndrome in Europe

RESEARCHTHERAPIES

BASIC RESEARCH

PRECLINICAL RESEARCH

CLINICAL TRIALS

DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES

Danila Baldessari

Fondazione Telethon

Piazza Cavour, 1 - Milano

dbaldessari@telethon.it

www.telethon.it

Thank you !

Backup

Ricerca Telethon sulle disabilita’ intellettive- Dettaglio -

Focus sulle malattie con una forte componente di disabilità intellettiva che hanno ricevuto un Finanziamento Telethon > 1 milione di Euro

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Fonte: TRic database, Telethon, Sept 2015

Questi progetti includono anche una CARRIERA TELETHON (DTI – Dulbecco Telethon Institute)

MALATTIA FINANZIATO PROGETTI (dal 1991)

PROGETTIATTIVI

RICERCATORI PUBBLICAZIONI

Disabilità intellettiva legata all'X € 4.531.016,84 20 * 4 12 106

Encefalomiopatie mitocondriali € 3.184.704,85 39 0 31 253

Sindrome Rett € 2.889.019,80 14 2 15 82

Autismo € 2.585.078,64 14 3 22 75

Sindrome di DiGeorge € 2.394.168,73 10 * 1 6 50

Sindrome da X fragile € 2.474.866,89 14 * 3 13 51

Sindrome di Williams € 1.935.173,80 7 * 2 6 30

Sindrome di Down € 1.592.226,89 15 2 12 31

CDKL5 – Sindrome di Rettassociata a forme epilettiche

€ 1.487.231,00 4 3 9 9

Valorizziamo il merito: il processo di selezione “Peer review”

1 Pubblicazione bando e analisi dei progetti

2 Valutazione dei progetti

3 Discussione Plenaria

4 Approvazione/assegna-

zione dei fondi

Fase

Telethon Research program Managers

3 membri indipendenti della commissione

33 membri della commissione scientifica

Telethon Board of Directors

Responsabile # progetti 2015

33

82

156

273

3 membri commissione scientifica + 2 revisori esterni

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I risultati della ricerca finanziata:uno standard di eccellenza mondiale

1991-2013: 9644 articoli pubblicati su rivistescientifiche internazionali.

Nel 2013: 577 pubblicazioni

Citation index: Numero medio di citazioni/paper* – quinquenni mobili

13,7

14,7

15,56

15,69

16,05

16,08

16,16

16,80

Yale (USA)

Stanford (USA)

Harvard (USA)

MRC (UK)

NIH (USA)

Telethon (Italy)

Oxford (UK)

Cambridge (UK)

CONFRONTO TRA ISTITUTI 2009-2013

Telethon

USA

Italia

Europa

6

8

10

12

14

16

18CONFRONTO INTERNAZIONALE

* Aree delle pubblicazioni per la ricerca biomedica(biologia e biochimica, medicina clinica, immunologia,biologia molecolare e genetica, neuroscienze ecomportamento)

Ref: Thomson Reuters e

Telethon TRic database, giugno 2014

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Biobank Disease focusAgreement with

Associations

1 Cell lines and DNA Bank from patient affected by Genetic Diseases (Filocamo, Genoa)Metabolic and White

matter disordersLesch-Nyhan, FOP, Poland

2 Galliera Genetic Bank: DNA, Cell lines and Tissue samples (Baldo, Genoa) Several diseasesDravet, Ring14, Mowat

Wilson, Dup15Q

3 Human Genetic Bank of patients affected by Parkinson Disease (Goldwurm, Milan) Parkinson’s Disease

4 Cell and DNA Bank of Rett Syndrome and other X-linked mental retardation (Renieri, Siena) Mental Retardation ILA, Rett, Alport

5 Neuromuscolar Bank of Tissues and DNA samples (Pegoraro, Padua)

Joint neuromuscular Biobanks

6 Bank of DNA, Cell lines and Nerve-Muscle-Cardiac tissues (Moggio, Milan)

7 Cells, tissues and DNA from patients with Neuromuscular Diseases (Mora, Milan)

8 Genomic Disorders Biobank (Merla, San Giovanni Rotondo) Williams Syndrome PWS

9 Naples Human Mutation Gene BioBank (Politano, Naples) Neuromuscular and cardiomyopathies

10 Cell line and DNA bank of pediatric movement disorders (Garavaglia, Milan) Pediatric disorders

11 Biobank of Genetic Samples (Sangiorgi, Bologna) Bone diseases

• 780+ genetic diseases

• 79.000+ samples stored (DNA/RNA, tissues, cell lines)

• 6.200+ samples distributed/year

Biobank applications are selected for funding by the Telethon Biobanks Committee through the peer reviewsystem

Milan4 biobanks

Genoa2 biobanks

Siena1 biobank

S. Giovanni Rotondo

1 biobank

Padua1 biobank

Bologna1 biobank

Naples1 biobank

TNGB: Telethon Network of Genetic Biobanks

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Risultati rilevanti per la vita dei pazienti

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Ad oggi grazie ai finanziamenti Telethon:

1 terapia è al vaglio delle autorità regolatorie per essere resa disponibile atutti i pazienti che ne avranno bisogno (Ada-Scid).

10 malattie genetiche sono oggetto di studio clinico (leucodistrofiametacromatica; sindrome di Wiskott-Aldrich; beta talassemia; distrofiamuscolare di Duchenne; amaurosi congenita di Leber; sindrome di Stargardt;malattia di Pompe; encefalopatia etilmalonica; sindrome di Marfan, insonniafatale familiare).

Circa 20 nazionalità coinvolte in questi studi.

Oltre 400 bambini e adulti affetti da malattie genetiche rare aiutati ecoinvolti in studi clinici finanziati da Telethon.

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