Therapeutic area: Infectious diseases

The Penta ID Network brings together key stakeholders in paediatric infectious disease, including researchers, clinicians, regulatory bodies, the pharmaceutical industry and patients and their families, to plan and carry out high quality clinical research and training.

The network began in 1991 as PENTA, the Paediatric European Network for Treatment of AIDS, and focused on conducting clinical trials on antiretroviral therapy among HIV-infected children. It later integrated with the European Collaborative Study, one of the largest cohorts of children born to HIV-positive mothers. In 2011 the network officially became Penta ID (Infectious Diseases), expanding and applying its expertise in HIV to other paediatric infectious diseases. The network now spans over 110 clinical sites in 31 countries, providing the access to paediatric patients necessary to perform clinical research, and leverages the expertise and experience in paediatric infectious disease of hundreds of participating researchers and physicians. In addition to coordinating and participating in trials and cohort studies, the network develops treatment guidelines and training programmes for health care professionals on various aspects of prevention and treatment of paediatric infectious disease, and contributes to European and global efforts to improve research infrastructure and harmonize and streamline research methods.


Therapeutic area: Rare Disease

EURORDIS (European Organisation for Rare Diseases Association) currently represents 676 rare disease patient organisations in 62 countries worldwide, of which 37 are European countries, including 27 EU Member States and is the voice of the estimated 30 million patients affected by rare diseases throughout Europe.

EURORDIS’ mission is to build a strong pan-European community of patient organisations and people living with rare diseases and to be their voice at European level to fight against the impact of rare diseases on their lives. Since its establishment in 1997, EURORDIS has gained significant and well-recognised experience in networking and capacity building for patient organisations, in information sharing as well as in policy development, regulatory affairs, medicines development and patient engagement. EURORDIS is currently involved in the governance of the ERN through the ePAG (European Patient Advocacy Groups) which directly relay with the European healthcare professionals involved in the Rare Diseases field. This is where research will be done and a direct link with a central “”middle-man”” will bring an added-value in streamlining the actions. Over the years, EURORDIS has set up a continuum of activities so to support and foster the involvement and input of patient representatives all along the pathway of development of medicinal products. As mentioned above, EURORDIS is committed to empower patient advocates through training/capacity building programmes (such as the ExPRESS Summer School or EUPATI). EURORDIS has a long history of being the voice of RD patients on the Committees and Working Parties of the European Medicines Agency and other fora (EUNetHTA Stakholder Forum, EC Expert Group on Rare Diseases, EU Expert Group on Cancer Control). EURORDIS has also strong skills with regards to identification, support and follow-up of patients who are engaged in regulatory procedures (Protocol Assistance at EMA, parallel Scientific Advice/HTA assessment in the SEED project. Additionally, EURORDIS developed a non-binding Clinical Trials Charter that aims at improving the quality of clinical research in rare diseases and at enhancing a transparent and effective dialogue between sponsors and patient organisations.


Therapeutic area: Cystic fibrosis

The European Cystic Fibrosis Society (ECFS) is an international community of scientific and clinical professionals committed to improving survival and quality of life for people with CF by promoting high quality research, education and care.

The European Cystic Fibrosis Society has formed a disease specific Clinical Trials Network (ECFS-CTN) with 57 clinical trials sites across 17 European countries with an approximate patient population of 21,500 patients. All centres have ample experience in clinical research. ECFS-CTN has a Quality Manager, Standardisation Committee and a Training Committee who oversee the training, competence and performance at sites.


The aim of the ECFS-CTN is to increase the quality and quantity of CF clinical research by realizing efficient and high quality clinical trials. ECFS-CTN, established in 2006 as a work-package within FP6 EuroCareCF Project has between 15-24 studies active in the network at any one time. The protocol review committee reviews the scientific design, safety aspects and the feasibility of protocols for new upcoming trials and the likelihood of conducting these trials in the network. The coordinating centre (based in Leuven, Belgium) serves as the central point of contact for all internal and external communication and is supported and advised by the Executive Committee.  The ECFS-CTN has been recognized as a Level-1 network in Europe by the European networks of paediatric research at the European Medicines Agency (EnprEMA).


Therapeutic area: Paediatric Rheumatology

Istituto Gianna Gaslini represents the Paediatric Rheumatology International Trials Organisation (PRINTO). PRINTO is a non-governmental international network founded by Alberto Martini and Nicolino Ruperto in 1996, and initially included 14 European countries (about 80 countries, nearly 600 centres worldwide with 1700 members today), with the goal to foster, facilitate and co-ordinate the development, conduct, analysis, and reporting of multi-centres, international clinical trials and/or outcome standardisation studies in children with paediatric rheumatic diseases (PRD).

PRINTO was founded with the idea to perform clinical trials for the PRD with or without the support of pharmaceutical companies. In general, if a study is not supported by a pharmaceutical company the design is that of a randomized, actively controlled, and open label clinical trial. If the study is supported by a pharmaceutical company and is part of a clinical development program which aims for marketing an agent, more classic designs are used. PRINTO is composed of academic, clinical centres actively engaged in the research/clinical care of children with PRD. PRINTO actually groups the most esteemed paediatric rheumatology researchers worldwide. PRINTO has four main vertical structures: – the Advisory Council that provide leadership and guidance for PRINTO research activities – the International Coordinating Centre whose main task it to facilitate the flow of logistic and scientific details needed to design, launch and manage multi-centered, multi-national, collaborative studies – the National Coordinating Centres (one per country) whose tasks are to facilitate the participation of the greatest number possible of individual centers, and to provide the translation of all the forms to be completed by the parents/patients – the Individual Clinical Centres that constitute the main support structure to obtain a critical mass of data for on-going and future research. Currently, PRINTO has enrolled more than 3,000 patients in sponsored trials which lead to the registration, thanks to the EU paediatric rules of almost all biologics agents labelled for use in JIA (etanercept, adalimumab, abatacept, tocilizumab, canakinumab, golimumab and others whose trials are ongoing), and more than 37,000 patients in academic studies. Of note among the academic studies it is worthwhile to mention the projects which lead to the criteria for response in clinical trial with juvenile idiopathic arthritis (known as JIA American College of Rheumatology – ACR – criteria used by either the EMA or the FDA for registration trial), juvenile systemic lupus erythematosus and juvenile dermatomyositis. Among the most recent projects it should be mentioned the largest pharmacovigilance registry in JIA (over 8000 patients), the largest autoinflammatory diseases registry (Eurofever)


Therapeutic area: Paediatric Oncology

The European Society for Paediatric Oncology (SIOP Europe or SIOPE) is the only Pan-European organisation representing all professionals working in the field of childhood cancers. With more than 1,600 members across 34 European countries, today SIOPE is leading the way to ensure the best possible care and outcomes for all children and adolescents with cancer in Europe.

Through the integration of research, care and education, SIOPE and its European community of health professionals address the two goals of the next decade: to increase the cure rate and the quality of cure of children with cancer. To achieve this goal, our Society addresses the main challenges faced by European paediatric oncology community through a multidisciplinary and Pan-European perspective. SIOPE is responsible for the dissemination of several other EU-funded projects in paediatric oncology (ENCCA, ExPO-r-Net and PanCareSurFup), ensuring thereby continuity and avoiding fragmentation. It already manages daily several modern communication tools, including the SIOPE website, newsletter, social media, e-communication, and presence at the main European events. Established in 1998 as SIOP European branch, SIOPE became an independent organisation in 2007 and developed into a professional organisation with a permanent Secretariat in Brussels and an established governance structure. Being a Member of ECCO (The European Cancer Organisation) and the European branch of SIOP (the International Society of Paediatric Oncology), SIOPE benefits from a privileged position to promote the project within the wider international cancer community, and actively participates in the EU and global cancer agenda. SIOPE focuses its efforts in several activities, within the following major areas: Since its creation, SIOPE’s efforts focused on making the voice of paediatric oncology heard at the European level, by engaging with policy-makers and European Union officers in order to shape the future EU health and research policy. Today SIOPE has become a reference stakeholder at the EU level, deeply involved in several discussions with policy-makers on the revision and assessment of EU pieces of legislation. This is why the paediatric oncology community needs SIOPE to identify and unify the opinions of the paediatric oncology community in Europe, speak with a single representative voice at the EU-level and influence the European health and research policies. Educational opportunities: training of the new generation of excellent professionals and improve the skills of healthcare professionals dealing with childhood cancer patients. SIOPE aims to work towards the acceleration of the knowledge transfer from research centres to daily practice, stressing the importance of the learning process, and strives to offer various types of education and training opportunities to the community. Communication: SIOPE has a strong expertise and long-lasting track record in the dissemination of several EU-funded projects in paediatric oncology (e.g. ENCCA, PanCareSurfUp, ExPO-r-NeT, EPAAC), benefitting from a privileged position to promote them within the wider international cancer community. Fostering cross-border exchange of best practices, SIOPE produces and disseminates relevant information for its members, partners and in support of research collaborations. Parents and patients: SIOPE actively maintains solid partnerships with parent/patient/survivor advocates at the European level, to bridge the existing information gap with paediatric oncology professionals. SIOPE provides a strong and reliable step stone for patients and their families to approach policy makers, researchers and other stakeholders. In order to place patients at the core of its initiatives, SIOPE signed last year a Memorandum of Understanding with Childhood Cancer International (CCI), a society which represents all European Childhood Cancer patients, survivors and their families. Relevant previous projects/activities related to the proposal – Leader of Work Package 9 on Childhood Cancers of the EU Joint Action on Rare Cancers (JARC) – Dissemination Leader of the project ENCCA, the European Network for Cancer Research in Children and Adolescents – Dissemination Leader of the project ExPO-r-Net, the European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment – Dissemination partner of the project PanCareSurFup, PanCare Childhood and Adolescent Cancer Survivor Care and Follow-Up Studies Dissemination partner of the project EPAAC, the European Partnership for Action Against Cancer. SIOPE disposes of the following resources which could be relevant to the project’s aims and objectives: – A strong expertise and long-lasting track record in: o the dissemination of several EU-funded projects in paediatric oncology o the organisation of well attended events and meetings at the European Level (e.g. the yearly policy event at the European Parliament on the occasion of International Childhood Cancer Day) o advocacy activities and engagement with relevant EU and national policy-makers – A comprehensive database of multi-disciplinary stakeholders from all stakeholders involved in the research, treatment and care of childhood cancer (patients/parents/survivors, researchers and healthcare professionals, EU and national policy-makers, industry representatives, regulators, charities, other cancer societies, etc.) A well profiled website and social media accounts.


Therapeutic area:  Muscular Dystrophy

TREAT-NMD is a network of world-leading experts for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible.

Since its launch in January 2007 the network’s focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. TREAT-NMD is committed to promoting collaborations between all stakeholders in order to avoid fragmentation and duplication. Its members include clinicians, patients, industry, academic institutions, advocacy groups and regulatory agencies all of whom recognize the advantages of strong interactions in accelerating cutting-edge therapies for otherwise unmet medical needs. TREAT-NMD has a strong track-record in advising the scientific and medical community, as well as providing the pharmaceutical industry with essential go-to resources (including registry management, clinical trial assistance and post marketing services) to advance novel treatments for neuromuscular conditions. The huge success of the TREAT-NMD model is highly relevant to other therapeutic areas, particularly those in rare diseases and paediatric conditions. TREAT-NMD offers tools and resources to facilitate all phases of clinical trials:

Pre-Clinical: TREAT-NMD works to harmonise the tools used in preclinical research. The goal is to identify a limited number of animal models and experimental protocols that are considered appropriate for use by research groups around the world, thereby improving the comparability of the preclinical work and accelerating the development of new drugs into the clinic.

Phase II: The TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary group of internationally recognized academic and industry drug development experts as well as representatives of patient foundations and regulatory experts. The committee meets twice a year to review applications and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases. The confidential, comprehensive reviews and resulting recommendations emphasize a rigorous, milestone-driven approach enabling optimal use of funding and resources. To date TACT has reviewed over 40 applications.

Phase I-Phase III: TREAT-NMD coordinates global registries for several neuromuscular diseases. TREAT-NMD Global Registries collect, as a minimum, a standardized core set of information that is not only useful for planning clinical trials, but also for recruiting patients into them. The TREAT-NMD Global Registries are governed by a Charter and the TREAT-NMD Global Database Oversight Committee (TGDOC). There have been nearly 20 global enquiries to the registries including feasibility studies, academic research and patient recruitment for trials. In addition, TREAT-NMD has established and manages a Care and Trial Site Registry (CTSR) in order to identify those sites capable of recruiting enough patients and offering a specific standard of care and experience in clinical trials. The CTSR provides information on personnel, facilities and patient population in order to help pharmaceutical industry and clinical investigators select trial sites, and to help to identify potential partners for upcoming research projects.

Phase IV: As the first therapies for neuromuscular diseases come to market TREAT-NMD also has a key role to play in Post Marketing Surveillance (PMS). The TREAT-NMD Executive Committee (including patient representatives) are in active consultation with the stakeholders to ascertain the feasibility of developing a disease specific PMS platform. Networking and communication is a vital role of TREAT-NMD which has a global membership. A monthly newsletter is sent to over 3500 subscribers and is read by academics, patients, professionals, industry and other key stakeholders. TREAT-NMD has close to 10 years’ experience in the neuromuscular field and has a strong track record in managing international networks with a variety of stakeholders.


Therapeutic area:  Chronic Kidney Disease

The European Study Consortium for Chronic Kidney Disease Affecting Pediatric Patients (ESCAPE Network) was established in 1989 by a group of centres dedicated to promoting clinical research in paediatric nephrology.

To date, more than 50 clinical centres in 13 European countries have enrolled almost 4,000 children in clinical trials, cohort studies and patient registries coordinated by the Network. The Consortium performed several investigator-initiated landmark RCTs in paediatric chronic kidney disease (CKD) such as the Low-Protein Diet Trial (Lancet 1997) and the ESCAPE Trial (NEJM 2009), a 6-year trial that identified intensified blood pressure control as the first effective nephroprotective pharmacotherapy in children with CKD. Other RCTs served to optimize the pharmacological management of hyperparathyroidism by active vitamin D and the long-term risks and benefits of antibiotic prophylaxis in young infants with vesico-ureteric reflux (the ongoing PREDICT Trial). Moreover, the ESCAPE Network has a 10-year track record of successful collaborations with the pharmaceutical industry in paediatric product development programs, e.g. AstraZeneca’s Candesartan in Children with Hypertension (CINCH) Trial, Amgen’s Cinacalcet and Etelcalcetide trials in children with secondary hyperparathyroidism, Mitsubishi’s Colestilan in Children (CONNECT) trials, Amgen’s Paediatric Darbepoietin Registry, and Roche’s ongoing Mircera for Renal Anemia in Children trial programme. Furthermore, the Consortium has launched several highly successful international cohort studies and registries for rare paediatric kidney diseases, such as the PodoNet Registry Study for children with steroid resistant nephrotic syndrome (1,900 children followed since 2009), the Cardiovascular Comorbidity in Children with CKD (4C) Study (700 children since 2010), the ARegPKD Registry with >300 children with autosomal recessive polycystic kidney disease since 2013, and most recently the EurAKID Registry for acute kidney injury in children. Finally, the network has established a central biorepository which constitutes a unique resource for genetic and biomarker studies in various paediatric kidney diseases. The Network has received several million € funding from various public, private and industry sources, including the EU 5th (ESCAPE) and 7th Framework Programmes (EURenOmics), the E-Rare ERA-Net for Research Programmes on Rare Diseases (PodoNet), the European Renal Association (ERA-EDTA) (4C, ARegPKD), the KfH Foundation for Preventive Medicine (4C), and the Italian Ministry of Health (PREDICT). To date, the network’s clinical research activities have led to 75 peer-reviewed publications. The Consortium is coordinated by a Central Office located in Heidelberg, Germany and holds 6-monthly investigator meetings which serve to review the progress of the ongoing trials, cohort studies and registries, discuss novel investigator and industry driven trial proposals, and deliver samples to the central biobank. From 2017, F. Schaefer will also coordinate the European Reference Network for Rare Kidney Diseases (ERKNet). ERKNet is one of 24 ERNs recently established by the European Commission to improve healthcare management for rare diseases throughout the EU. ERKNet currently comprises 38 European Reference Centers for rare kidney diseases, including 29 paediatric nephrology services in 12 European countries. In addition to numerous activities aimed at providing cross-border specialist expertise throughout the EU and optimizing patient management across the reference centers, ERKNet will establish a network-wide patient registry of rare kidney diseases to provide rapid access to patient cohorts for pharmacological clinical trials. Fourteen of the 29 paediatric ERKNet centers are also members of the ESCAPE Network, and further ESCAPE centers are expected to join ERKNet in late 2017 or become affiliated partners.


Therapeutic area:  Paediatric Psychopharmacology

The European Child and Adolescent Psychopharmacology Network (ECAPN) is a well-established network of child and adolescent psychiatrists representing several EU countries, all of whom are experts in paediatric psychopharmacology.

Its aims include the identification of unmet needs in child and adolescent psychopharmacology, conducting collaborative scientific studies and clinical trials, and the development of strategies to improve state-of-the-art prescribing of medication to children and adolescents with psychiatric disorders in clinical practice. The ECAPN is supported by the European College of Neuropsychopharmacology (ECNP), who also provides budget support and is the Network legal and administrative representative. ECAPN has been recognized by European networks of paediatric research at the European Medicines Agency (EnprEMA) in 2014 (currently a category 2 network); ECAPN currently includes 12 members (Clinical centres, often with national satellite centres), and enlargement by including other members is in progress; many ECAPN members are also members of the EnprEMA EUNETHYDIS network (a category 1 network). Even before EnprEMA recognition, ECAPN members collaborated in promoting and conducting several FP7 EU Projects (PERS, AgressoTYPE, MATRICS on aggression and conduct disorder, TACTICS on impulsivity and compulsivity, STOP on drug-related suicidality, ADDUCE on ADHD, EMTICS on Tics and Tourette, EU-AIMS on autism, MILESTONE on transition on Adult Mental Health services); members of the network also cooperated in several Industry-sponsored trials for regulatory purposes (atomoxetine, lysdexanfetamine and guanfacine for ADHD, aripirazole for Tourette Syndrome, currently vortioxetine for Major depression); interaction with industries is under way in order to develop Paediatric Investigation Plans of innovative medications on sleep disorders and acute suicidal behaviour. Specific ECAPN Clinical centres also perform independent collaborative studies with other ECAPN clinical centres. Within several of the EU-funded studies, EU parent associations were actively involved and ECAPN developed specific guidelines for protection of children personal data and the management of genetic data (see ECAPN websites); a network clinical database is also under advanced construction with the ECNP support. The ECAPN is intensively involved in the annual ECNP School of Child & Adolescent Neuropsychopharmacology (a week of intense training for young Child and Adolescent Psychiatrists, last edition arriving from 28 EU countries. ECAPN provides an established expert scientific advisory panel for evaluating clinical developmental plans, requirements for data generation/integration, possibilities of implementation of clinical trial projects (feasibility), contributing to define appropriate innovative methods (dose selection, biomarkers, endpoints, study designs) for specific mental disorders, and an already established network of expert clinical centres for both large scale and pilot proof of concept or feasibility studies. ECAPN has established relationship with national government and regulatory agencies in several countries, existing research consortia (i.e., EU-AIMS, specific FP7 & Ho2020 consortia), patient (i.e., adolescents) and parent advocacy groups for child & adolescent mental disorders , usually not related to other paediatric advocacy groups, and intense relations with America (Northern and Southern) and Australian child & adolescent psychiatry research groups.


Therapeutic area:  Global Research Network

The Gianni Benzi Pharmacological Research Foundation (FGB) is a registered not-for-profit Scientific Research Organisation, promoting research in biological, medical and pharmaceutical areas, with particular reference to patients affected by rare diseases and other populations with specific therapeutic needs, including elderly and children.

FGB runs several activities, spanning in different fields. Activities linked to the area of Information and Communication Technologies (ICT) in medical research FGB coordinates HTA-THAL, an initiative collecting and storing clinical, economic and epidemiological data from Haemoglobinopathies patients in Italy. The database collects clinical information from near 2,000 patients referring to a total of 60 clinical centres. This electronic repository is evolving to allow direct data entry by patients (Patient Reported Outcomes, PROs) and interactions with other databases. A pilot exercise of data sharing is currently ongoing with the MIOT registry to produce an enlarged retrospective analysis. A larger collaboration with centres participating in EUROBLOONET, the European Reference Network in the field of Haematology, is under discussion. FGB also manages EuOrphan, a database collecting information on drugs for rare diseases designated and/or approved in Europe and in the US. Recent analyses from EuOrphan, also published on international peer-review journals, describe the reasons for failures to further developing orphan medicinal products after designation Europe. Through its reports, EuOrphan allows healthcare professionals, researchers, companies and patients to evaluate the coverage of the therapeutic needs in the field of rare diseases. In the context of the InNerMeD-I-Network, an IT-Platform has been set-up storing data and exchanging information on the diagnosis and treatment of inherited neurometabolic diseases. In the recently-approved project ID-EPTRI, FGB collaborates in the design of the IT platform as well as in other activities, e.g. context analysis and ethical review of the infrastructure. Finally, FGB is collaborating in initiatives in the Mediterranean area aimed at stimulating the adoption of ICT-based solutions for Health (Albania, Montenegro and South of Italy) and at creating a platform for the evaluation, validation and processing of research performance. Activities linked to the area of trials and studies methodologies and education FGB is involved in many other projects, also carrying out regulatory, ethical and methodological activities in interventional and non-interventional studies. They include: – PedCRIN (Paediatric Clinical Research Infrastructure Network, 731046 H2020-INFRADEV-2016-2017), three-year project (2016-2018); – SMART (Small Medicines Advanced Research Training, 692327 H2020-TWINN-2015), three-year project (2016-2018); – CloSed (Clonidine for Sedation of Paediatric Patients in the Intensive Care Unit, 602453-FP7-HEALTH-2013-INNOVATION-1), five-year project (2013-2018); – GAPP (GAbapentin in Paediatric Pain, 602962-FP7-HEALTH-2013-INNOVATION-1), four-year project (2013-2017); – GRiP (Global Research in Paediatrics, 261060-FP7- HEALTH-F5-2010), 78-month project (2011-2017); – DEEP (DEferiprone Evaluation in Paediatrics, 261483-FP7-HEALTH-2010), 68-month project (2011-2016). In the national context, the Gianni Benzi Foundation is co-founder of the Apulian High Technology District “Health and Biotechnology” (H-BIO Puglia) operating in three main areas: personalised medicine and advanced therapies, technology and services for advanced diagnostics, Bioinformatics. Finally, FGB promotes and develops annual high level Educational Courses devoted to implement regulatory science in EU (Foresight Training Courses). Previous Projects or activities: the five most relevant previous projects or activities, connected to the subject of this proposal are: – HTA-THAL Registry: the Italian Thalassaemia Patients’ Interregional Registry, Italian Ministry of Health 2008-2011 – InNerMeD-I-Network, Inherited NeuroMetabolic Diseases Information Network, Second Health Programme (2008-2013) Grant Agreement n. 2012 12 12 – ID-EPTRI, European Paediatric Translational Research Infrastructure, INFRADEV-01-2017 n. 777554 – EuOrphan database, an initiative deriving from a project funded by the e-TEN Programme, 510774 2003 / C 118 /19 – H-BIO Puglia, Plan for Research and Competitiveness 2007-2013 – Action I – Distretti di Alta Tecnologia e Relative Reti (PON 2007-2010) Significant infrastructure and/or any major items of technical equipment, relevant to the proposed work: FGB hosts an IT & Research laboratory, that has been formally acknowledged as Research Organisation/Laboratory in the list of Living Labs organisations (Apulia Region). It is in charge of developing platforms, databases and other tools (e.g., surveys and e-learning environment) to support research activities implementing innovation. The laboratory is also working on the design and implementation of patient registries.


Therapeutic area:  Global Research Network

The European Clinical Research Infrastructure Network (ECRIN, is a sustainable, non-profit, distributed infrastructure with the legal status of a European Research Infrastructure Consortium (ERIC). ECRIN provides support for the development and implementation of multinational clinical research projects in Europe.

ECRIN is a fast-growing network currently it has seven Member Countries (France, Germany, Spain, Italy, Portugal, Hungary and Norway) and two Observer Countries (Czech Republic and Switzerland). Many more countries have expressed interest in joining ECRIN and are about to join. By supporting multinational trials, ECRIN aims to facilitate access to patients, resources, and expertise, and, in turn, enhance the quality of clinical research projects for greater public health impact. ECRIN’s ‘distributed infrastructure’ includes a Core Team based in Paris, France (headquarters) and European Correspondents (EuCos) working in each Member and Observer Country. EuCos are seconded to ECRIN by ECRIN’s national scientific partners with which ECRIN has established a stable partnership. These partners are usually networks of academic clinical trial units (CTUs) and/or clinical research centres (CRCs) located at or affiliated to national universities and hospitals. These CTUs/CRCs have professional staff specialised in clinical research and are highly qualified to conduct multinational clinical trials according to international standards, general and specific regulations applying to clinical trials, and Good Clinical Practices (GCPs). ECRIN’s national scientific partners include 80 CTUs and CRCs. ECRIN national scientific partners are the final service providers for ECRIN-supported clinical trials; they provide services under the coordination of ECRIN. In addition, to its national scientific partners in Member and Observer Countries, ECRIN has partners in other countries in Europe and internationally with which it collaborates. History and funding: ECRIN began in 2004 as a consortium and matured through European Union Framework Program 6 and 7 funding (projects awarded in 2004, 2006, 2008 and 2012). In 2006, it was listed on the European Strategy Forum on Research Infrastructures (ESFRI) roadmap, and in 2016, it was designated an “ESFRI Landmark”. In December 2013, ECRIN was awarded ERIC status. ECRIN is sustainably funded through the contributions of its Member Countries. ECRIN has been offering trial management services for multinational clinical studies since 2009. Currently, clinical trial portfolio for ECRIN includes more than 40 European-funded, multinational clinical trials run in more than 20 countries (with a mean of seven countries per study), including both ECRIN Member and Observer Countries, as well as other countries in Europe and elsewhere. These trials are of different clinical research phases covering various diseases, medical conditions and populations. These trials cover medicinal products, vaccines, medical devices, nutrition, surgery, or diagnostic interventions. The support provided is adapted to the sponsor’s/coordinator’s requests and needs, and ranges from full support for the development of the clinical trial (as lead CTU and/or Work Package leader or co-leader), central tasks (data management, central monitoring and pharmacovigilance), and tasks to be performed in the different countries (national project management, regulatory and ethical authorisations, follow-up, and on-site monitoring). As part of the trials in its portfolio, ECRIN has coordinated many of the services that are being proposed for the given study. The list of clinical trials currently receiving ECRIN support is available at In addition, ECRIN has been or is currently coordinator of five EU-funded projects (FP6/FP7/H2020) and has been a beneficiary in more than 20 projects, acting as Work Package leader in most cases. ECRIN’s cross-border experience, acquired from both the provision of clinical trial services and participation in capacity building projects, is particularly relevant for the proposed study, where close coordination and communication between parties is critical to success. ECRIN has demonstrated that it can effectively coordinate services in multiple countries simultaneously; support communication between parties; and contribute to the identification of in-country resources, among other tasks. ECRIN services: ECRIN provides services for the management of multinational trials after having supported investigators and sponsors in the preparation of the trial protocol and funding application, and after validation of the trial through independent protocol peer-review and logistical assessment. Services during the conduct of the trial include central services (data management through ECRIN certified data centres, central vigilance) and distributed services provided by the ECRIN partner in each country involved (regulatory and ethical submissions, follow-up, monitoring, and local vigilance, etc.). ECRIN primarily provides support to sponsors in investigator-initiated trials; its focus is on independent, multinational academic research as well as trials initiated by biotech and medical device small and medium enterprises (SMEs). As part of its trial-support activities, ECRIN develops and maintains freely accessible tools such as databases on regulatory and ethical issues, outcome measures, and risk-based monitoring. In addition, ECRIN contributes to capacity building projects aiming to establish shared services in biomedical areas, and to foster international cooperation in non-commercial trials. PedCRIN: The PedCRIN project coordinated by ECRIN started on January 2017, funded by the H2020 Infrastructure Unit (GA731046). PedCRIN is highly complementary to the IMI c4c project: whereas c4c focusses on the structuring of a network of paediatric investigation sites.


Therapeutic area:  Hereditary Metabolic Diseases

METABERN: The European Reference Networks (ERN)is the most advanced patient-centered program launched from the European Commission to network the most acknowledged clinical and research centers of excellence in Europe.

ERNs deliver cross border prevention, diagnosis, management and access to therapy to patients affected from rare diseases. Twenty-four ERNs have been recently approved caring, all together, for about one million patients in Europe, spanning 8000 rare diseases, involving 300 Health Care Providers (HCPs) and 1000 specialized units. Research and development of innovative therapies are ERNs´major aims. Involvement and coordination of Patient Associations is a central activity of ERNs: In this contest, the ERN for Hereditary Metabolic Diseases (MetabERN) is the first pan –European pan-Metabolic Network devoted to the cross-border care of inherited metabolic diseases. MetabERN cares for 43.000 metabolic patients, 2/3 of whom affecting paediatric patients, involving 1700 professionals from 69 HCP from 18 EU countries. MetabERN is in collaboration with all the approved ERNs due to the cross-linking phenotypes of rare diseases with the Metabolic involvement. MetabERN is coordinated by Prof. Maurizio Scarpa. Director of the Center for Rare Diseases of the Helios- Dr. Horst Schmidt Kliniken (ZSE-HSK) in Wiesbaden, Germany. The HELIOS Dr. Horst Schmidt Kliniken in Wiesbaden is a highly qualified multidisciplinary center aimed at the treatment of patients with rare diseases as a maximum care facility involving 22 specialized departments and 4 institutes. The team at the Center for Rare Diseases coordinates a multidisciplinary care aimed to satisfy patients´ need. The MetabERN will liaise closely with all the 24 ERNs to facilitate the development of innovative therapies for rare diseases. MetabERN will mainly contribute to feel the gaps in clinics and research in the field of rare metabolic diseases including genetic and pathophysiological studies, and research on diagnosis and therapies for rare diseases (identification and characterisation of biological targets, development of innovative screening systems, generation of relevant cellular and/or animal models and gene or cell therapies). This will be expanded by the collaborative partnerships with all the approved ERNs that will play a fundamental role in clinical research activity facilitating the engagement of a broad alliance of people, involved in the field of rare diseases, in a collaborative strategic effort. In particular, the establishment of a strong and active collaboration with Biotech and Pharma Companies will be extremely helpful to scale and speed up rare diseases research and most importantly, to link together basic research, the development of new tools, and operational research. Such creation of a network of experts will also allow to run a high standard scientific school supported by top-level scientists, biotech companies, policy-makers and patient groups to train the future generation of young physicians and scientists to maintain the EU’s leadership and excellence in this promising research field, and in particular on LSDs.


Therapeutic area:  Global Research Network

Arsenàl.IT is the Veneto’s Research Centre for eHealth and the voluntary consortium among all the 13 Health Authorities and Hospital Trusts of the Veneto Region, funded in 2005. It aims at enhancing the quality of the clinical processes and assistance offered to citizens with an inter-enterprises view.

Its strength lays in the capability of building sustainable models that let each associated member use in a better way the supplied resources and restrain the costs, facilitating the change management. Arsenàl.IT deals with planning, development and assessment of inter-organizational e-health applications and it is involved in activities connected to standardization, systems interoperability, innovation research, procurement engineering and training. The organization and application of e-health models studied by Arsenàl.IT and shared with all regional Local Health Authorities and Hospital Trusts are a network of knowledge, competence and technology that represents a unique example in Italy. In addition, Arsenàl.IT works at international level participating in several international and national networks finalized to increase the sharing of technology innovation; Arsenàl.IT is involved in European projects related to application of eHealth in management of chronic patient and in patients’ empowerments. From 2012, Veneto Region delegated Arsenàl.IT to coordinate the Local Health Authorities and Hospital Trusts of the region to achieve the objective of realize Regional Electronic Health Record. When carrying out these activities, the Consortium applies the Health Technology Assessment (HTA) model focussing on the systematic evaluation of different forms of clinical, economic, organizational and social impact as a result of the introduction of ICTs in Health. Arsenàl.IT collaborated with EUnetHTA (European network for Health Technology Assessment), that is a European project for the creation of a network for assessing healthcare technology. EUnetHTA, has now advanced to the third Joint Action, involves partners from 28 EU Members States. The strategic objective of the network is to link the national and regional system to HTA agencies, research institutes and Health Ministries as to consent an efficient exchange of information and the support for political decisions as regards Member States. Arsenàl.IT was in charge of coordinating the phase of dissemination of the “”body of knowledge”” progressively ripened in EUnetHTA on several HTA themes: spreading and management of outputs in HTA, information sharing. It is the method defined in this project that started the MAST – Model of Assessment of Telemedicine applications – used in a European RENEWING HEALTH Projects focused on the evaluation of eHealth services on tele-monitoring for patient with Chronic disease. EUnetHTA performs the function of the scientific and technical cooperation of the HTA Network.