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The Brains for Brain Foundation, in collaboration with the Clinical Research Center in Salzburg and the Medizinisches Simulationszentrum Salzburg, and as part of the capacity building and training activities of the European Reference Network for hereditary Metabolic disorders (MetabERN), has organized a PRECEPTORSHIP PROGRAMME ON RARE DISEASES: MUCOPOLYSACCHARIDOSIS (MPS), MANAGEMENT AND TREATMENT” that will take place at the Salzburg Medical Simulation Center on April 10^th, 11^th and 12th,   2019.

The course will guest about 15 physicians from different countries who will visit to share experiences and being updated on the recent development on MPS. The meeting will also provide a comprehensive global forum for experts and participants to exchange ideas and present results on all aspects of MPSs.

For more details please see the complete programme.

Objective – The overall objective of the course is to train professionals with a scientific background and an interest on Lysosomal Storage Diseases, in particular Mucopolysaccharidoses (MPSs) and to provide them with theoretical expert knowledge and practical experience in both the recognition of these diseases and related management. The practical experience in management and treatment of MPSs will be gained through the use of patient case studies that the participants will work on throughout the course and in parallel with new topics being added to their theoretical knowledge base.

 Expected results – The main expected results of this program consist in ensuring safe and effective initiation of therapies in patients from countries where there is not experience of administration; decreasing the possibility of severe adverse events during treatment and helping patients to receive a state of the art follow up.

 Learning outcomes – At the end of the course participants will be able to discuss a multidisciplinary approach for the management and treatment of these complex disorders assuring an adequate follow up of patients by evaluating the status of the disease.

Participants and Requirements – Participants (max 15) are expected to have quite a good experience in the management of MPS patients in particular with the ERT and its possible adverse events. The Preceptorship will be run in English, a good knowledge of the English language is mandatory. Participants are required to attend for the entire length of the preceptorship.

How to apply – If you are interested in the PRECEPTORSHIP PROGRAMME ON RARE DISEASES: MUCOPOLYSACCHARIDOSIS, MANAGEMENT AND TREATMENT,  please send an email  with your CV to Dr. Cinzia Maria Bellettato, the Brains for Brain Scientific Officer,  at c.bellettato@gmail.com

All candidates will be evaluated according to the skills, qualifications, experience and professional interest considered necessary to successfully complete the preceptorship.

IMPORTANT: Please note that B4B will cover travel from EU countries only and that non-EU affiliates will have to cover for flights.

For more details please see the complete programme.

Prof Maurizio Scarpa (IT) and Dr David Begley (UK)  have officially opened yesterday the 13th meeting of the Brains for Brain Foundation (B4B) that is taking place in Frankfurt in these days (January 24th-26th, 2019)

This  last edition brought together about 100 outstanding scientists and ‘clinicians’  leaders in the neurological field. Such an extended participation is a sign of the increasing awareness of the importance of collaborative research and  interdisciplinary dialogue among experts working on the neurological rare diseases field. In particular the active participation of new and old attendees seriously committed to combine their forces and their scientific experiences is a proof of evidence of the successful networking activity performed by the Brains for Brain Foundation. 

B4B is an International Task Force (chaired by Prof Maurizio Scarpa) aimed at funding  translational research and education in the field of neurodegenerative paediatric disorders,  mainly focusing  the attention on a group of about 40 genetically and biochemically very well characterised diseases, called Lysosomal Storage Disorders (LSDs).

Today is Rare Disease Day: it is time to ‘show your rare’

Brains for Brain is pleased to inform you that the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM) will be held in Athens from September 4th to September 7^th 2018.

The theme of the scientific program is: “Old Roads, New Connections”. The objective of the symposium is to show how ‘OLD’ knowledge is being transformed and ‘NEW CONNECTIONS’ are being recognized, which help us to see the bigger picture, understand the physiology and thus the pathophysiology of IEM’s and provide new diagnostic tools and new targets for treatment.

For more infor please see http://www.ssiem2018.org/.

We are pleased to announce the forthcoming 12th meeting of the Brains for Brain Foundation (B4B) .

B4B is an International Task Force (chaired by Prof Maurizio Scarpa) composed of outstanding scientists and ‘clinicians’ who are leaders in the neurological field. Together with Biotech companies they aim to facilitate joint efforts to improve the understanding of rare genetic diseases affecting and seriously damaging the brain, in particular in children. The main mission of the fundation infact consists in the funding of translational research and education in the field of neurodegenerative paediatric disorders  mainly focusing  the attention on a group of about 40 genetically and biochemically very well characterised diseases, called Lysosomal Storage Disorders (LSDs).

 If you wish to attend the workshop, please get in touch with Mrs Paula Caprelli (p.caprelli@jazzitaly.com) as soon as possible in order for us to be able to register your presence and predispose the logistics.

For general enquiries or any additional required information, please get in touch with Dr. Cinzia Maria Bellettato (c.bellettato@gmail.com)

The 20th anniversary edition of the EHFG took place 4-6 October 2017 in Bad Hofgastein, Austria, gathering over 500 participants.

The EHFG is the most important health-related event in the European Union and a meeting point for experts from different fields within the health system. Different knowledge and different experiences are brought together to the table for discussion, differing greatly from other events which are generally focused on very specific areas.

Prof.  Maurizio Scarpa was invited to actively participate to the meeting organised by DG Research and Innovation (DG RTD), European Commission, to represent the MetabERN and particularly contributing to the Gastein session “Personalising healthcare: How rare diseases pave the way” that took place on Wednesday 4 October 2017 from 09.00  to 11.00 am.

Other invited panellists that took part to the discussion were

• OLAF RIESS NeurOmics Project Coordinator, University of Tübingen
• AIN AAVIKSOO Secretary General for E-services & Innovation, Ministry of Social Affairs, Estonia & Vice-Chair, ICPerMed
• PÁLL JÓNSSON Associate Director for Research and Development, National Institute for Health and Care Excellence (NICE)
• VINCIANE PIRARD Senior Director Public Affairs (Europe & International), SANOFI Genzyme

The session was Moderated by IRENE NORSTEDT, Head of Innovative and Personalised Medicine Unit, DG RTD, European Commission

The meeting aimed at discussing current efforts in personalised medicine that aim at bringing scientific insights into the clinic to effectively

• identify disease and predisposition for disease,
• prescribe the right therapy and determine the right dose for the right patient,
• and to better deliver timely and targeted prevention.

During the session the different stakeholders discuss about current and future way to exchange knowledge and develop strategies, policies and guidance that pave the way to personalised medicine in Europe, using rare diseases as a model. Advances in genomics and other “omics” technologies have significantly improved our understanding of the pathogenesis of rare diseases. This has opened avenues for piloting new, personalised diagnostic methods and therapies. The impact of “omics” is reinforced by the combination of these data with Real-World Data (RWD).

What are Omics technology? “Omics” are technologies used to characterise and quantify pools of biological molecules and to explore their roles, relationships and actions in the cells of a living creature. They are primarily aimed at the universal detection of genes (genomics), mRNA (transcriptomics), proteins (proteomics) and metabolites (metabolomics) in a specific biological sample.

What are RWD? RWD are commonly defined as information reported and collected from routine clinical settings. Notably, it has been recognised that large data sets of detailed phenotypes integrated with genetic data help adjust dosage and select therapy. RWD is also vital for post-authorisation evidence generation. The blurred boundary between clinical care and research in rare diseases makes them an excellent candidate for piloting integrated bench-to-bedside pipelines to ensure the rapid translation of research findings into clinical support for personalised medicine.

What do we mean by personalized Medicine? According to the definition developed by the Advisory group for the H2020 Health, demographic change and well-being challenge “Personalised medicine refers to a medical model using characterisation of individuals’ phenotypes and genotypes (e.g. molecular profiling, medical imaging, lifestyle data) for tailoring the right therapeutic strategy for the right person at the right time, and/or to determine the predisposition to disease and/or to deliver timely and targeted prevention”

In the field of  Rare diseases the most important thing is the sharing of knowledge and experience in order to do the  best for the patients. European Reference Networks(ERNs) are therefore very important.

What are ERNs?  European Reference Networks are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources. There are 24 ERNS involving 25 European countries plus Norway, over 300 hospitals with over 900 healthcare units and covering all major disease groups. ERNs are patients centered. In the specific case, MetabERN and its members, for example,  demonstrate and document their patient-centred approach and commitment to patient empowerment having them deeply involved in the organizational structure (governance) of the network and taking particularly into account any input and experience of patients, families and patients’ association to be used in the development of guidelines and pathways, quality and safety framework, outcome and performance indicators. Moreover MetabERN is particularly focused at creating awareness and new generation of doctors that can help the patients to get a timely diagnosis.

How can the ERNs improve the lives of patients? Between 6 000 and 8 000 rare diseases affect an estimated 30 million people in the EU. An unfortunate feature of rare diseases and complex conditions is the scarcity and fragmentation of specialist knowledge, which is often not available in the patient’s region or country. Many patients therefore do not find a satisfactory explanation for their symptoms or the necessary knowledge on treatment options. By consolidating knowledge and expertise scattered across countries, the ERNs will give healthcare providers access to a much larger pool of expertise. This will result in better chances for patients to receive an accurate diagnosis and advice on the best treatment for their specific condition.

How to make the data usable? It is important to have digitalized data and patients’ information: we need to extend access to data at regional, national or across the borders level. To facilitate and create research it is needed politic will, interoperability, technical standards, semantic, legal agreement, data protection and organizational interoperability.  This are major issues for the ERNs since data sharing is fundamental in the context of ERNs. To this aim the European Commission is preparing a platform meant to help the 300 Health Care Providers to share data. This constitutes an important step forward toward the operability of data since it will be interfacing with already existing platforms. This is a very important moment since we are assisting to convergence of different disciplines coming together and of different stakeholders willing to start to work together and to the establishment of a number of initiatives (IRDIC, E-rare, digitalization of health and care, health technology and assessment, etc) that support collaborative research projects.

Video recordings of all the  EHFG sessions are available on the Gastein website: https://webcasting.streamdis.eu/Mediasite/Catalog/Full/

Organized by the Italian Ministry of Health, the ERN Info Day’ was held in Rome (Italy) on October 16th, 2017.This meeting was aimed to create collaboration among the Italian HCPs involved in the European Reference Networks (ERN), that as highlighted by Andrzej Jan Rys (Director HelathSystems, Medical Products and Innovation, DG Sante’) are virtual networks of specialists officially born in March 2017, dedicated to the diagnosis and treatment of diseases complex or rare. The 24 ERNs so far approved cover all major disease groups and represent almost a thousand of multidisciplinary medical teams of more than 300 hospitals, located in 25 EU Member States and Norway.

During the opening session the Italian Minister of Health, Beatrice Lorenzin, underlined the huge sense of  solitude  and loneliness that commonly affects patients with rare diseases and stressed the important role of ERNs in intercepting, helping and taking care of these patients and their families.

Thanks to a close contact with regulatory authorities, key opinion leaders, patient advocacy organizations. and non-traditional players, like technology companies, ERNs can create a new coordinated way to manage patients affected by rare diseases and optimize access to diagnosis and therapy. This will have a strong Impact on the National Health System in terms of sparing resources, optimizing services and avoiding waste of expertise.

The first six months of ERNs activity were then presented showing how Italy plays a leading role with two specific ERN that have been deeply presented by the related Coordinators:

• ERN on connective tissue and musculoskeletal diseases (ERN ReCONNET) coordinated by Professor Marta Mosca (Azienda Ospedaliero Universitaria Pisana, Italy)
• and ERN on bone disorders (ERN BOND) coordinated by Dr Luca Sangiorgi, Rizzoli Orthopaedic Institute, Bologna

and with the presence of 185 health care units (18% of the total) and 67 hospitals (22% of the total).

Moreover the key role of Prof Maurizio Scarpa (Coordinator of the ERN for Inherited Metabolic diseases and chair of the Board of ERN Coordinators) in further contributing to the increment of the Italian prestige inside the ERNs was highlighted.

ERNs constitute the most far-reaching clinical project in Europe. They are not a project or a program, they are a “CONCEPT” and represent  the major achievement of the European spirit of collaboration, sharing and health investment in the field of rare diseases. In particular, as stated by Prof Maurizio Scarpa, ERNs are not single networks, but rather a critical mass of about 300 hospitals and over 1000 specialised units, cross feeding each other to meet the needs of patients.

Prof Scarpa then described the challenges for the future mainly consisting in:

• Integrating the ERN into the national health care system of individual states,
• ensuring that the hospitals support the network coordinators and the health care Providers Units, so as to allow the ERN to become reference systems for patient pathways at the national level. “

In particular the ERNs´ integration inside the MS National Health Systems/National Plans for Rare Diseases will represent a major achievement for the Cross Border Care. The ERNs´/MS National Health Systems/National Plans for Rare Diseases integration is instrumental to define strategies to optimize the cost of management of patients of rare diseases.

As laid down in Article 12 of the Directive on the application of patients’ rights in cross-border healthcare, registries constitute one of the important objectives of the European Reference Networks (ERNs) to be set up. Also in this regard Italy has given an enormous contribution, as illustrated by Prof Domenica Taruscio (National Center for Rare Diseases, National Institute of Health), thanks to the establishment of the national Rare Disease registry of the Superior Health Institute and regional registries, tools that have allowed the creation of a national monitoring system for the surveillance of rare diseases and the analysis of the flows of patients and health care facilities. Such systems are designed to ensure maximum simplicity for patients who are forced to deal with several specialists and thanks to the integration of the common virtual counselling electronic platform a coherent framework for data sharing, second opinion and the creation of cross-border multidisciplinary teams is provided. This system allows to ensure better performance for a better quality of life for patients and at at the same time lower healthcare costs as highlighted by Paola Facchin (Interregional Table for Rare Diseases) who highlighted the importance of the support provided by the Ministry of Health to the Italian Centers in entering in the European context. Claudio Ales (UNIAMO FIMR onlus) recalled the importance of the patient’s contribution to this infrastructure and underlined the importance of having the different players working together in synergy, enhancing a better future for all the patients suffering from rare diseases.

Following the call for applications for Rare diseases (3rd Public Health Programme) in support of the setup of new registries, the Brains for Brain Foundation is proud to announce that the MetabERN proposal for the creation of the Unified Registry for Inherited Metabolic Disorders (U-IMD) has been approved by the EU.

The major objective of this project s to establish the first unified European registry  that encompasses all inherited metabolic disorders (IMDs) as listed by Orphanet (http://www.orpha.net/). The overall aim of this project is to promote health for children, adolescents and adults affected by rare IMDs and to reduce variation between countries and enable and empower patients, wherever they live, to access the necessary expertise and services and promote research on IMDs and the development of safe and efficacious new treatments. Furthermore, U-IMD will systematically collect data of affected individuals with an IMD of yet unidentified molecular origin and will group them according to their clinical and biochemical phenotype. This will help to identify and systematically treat and follow these patients once the etiology of their disease has been clarified.

The Unified European Registry for Inherited Metabolic Disorders (U-IMD) will be established in collaboration with the MetabERN.

 As laid down in Article 12 of the Directive on the application of patients’ rights in cross-border healthcare, registries constitute one of the important objectives of the European Reference Networks (ERNs) to be set up and consequently this achievement is of great value for the MetabERN and represents a major milestone for the entire network of ERNs.

The U-IMD Registry takes its origin from 3 existing and well characterised registries:  (E-IMD: https://www.eimd-registry.org/, E-HOD: https://www.ehod-registry.org/, iNTD: https://www.intd-registry.org/) family of IMD registries, and will  have a relevant impact on improving the health of patients with Inherited Metabolic Disorders and facilitates post- authorisation safety studies (PASS) for orphan drugs. In particular it will enable systematic deep clinical phenotyping, genotype/phenotype correlation, interdisciplinary analysis of the disease courses, diagnostic approaches, current treatment strategies and quality of life of IMD patients on a European level. Beside the extension of knowledge, U-IMD will also contribute to better treatment strategies, resulting in improved long-term prognosis of patients.

The project consists of 3 components: (1) a novel registry platform for all known IMDs, (2) an upgrade of existing IMD registries and (3) a collaboration with the European Rare Kidney Disease Reference Network (ERKNet). The new Unified European Registry for Inherited Metabolic Diseases (U-IMD) will encompass all known IMDs, fully implementing EUCERD recommendations. The data modules developed for U-IMD will be integrated in the existing IMD registries, with the iNTD registry as pilot, thus reaching interoperability of patient records. MetabERN will develop a common standard for minimal core data sets also with the ERKNET, the ERN for Kidney Diseases, to show interoperability and possible expansion of the registry to all other rare diseases.

The U-IMD registry will follow an open multiple stakeholder approach, explicitly seeking collaborations with national and EU level health authorities, other scientific networks and consortia, patient and parent organizations and industry.

The Project is lead by Stefan Kölkler ( MetabERN Vice-coordinator, University of Heidelberg, DE)  and it is at the moment at the Grant Agreement status.

The network that has been formed for the proposal comprises the following MetabERN Healthcare Providers: the University of Heidelberg, the Hospital Sant Joan de Deu (ES), the Bambino Gesú Hospital (IT), the University of Prague (CZ), The Horst Schmidt Kliniken (DE).