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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).

The Brains for Brain Foundation, in collaboration with the Centre for Rare Diseases at the Helios Horst Schmidt Kliniken in Wiesbaden & the Clinical Research Center in 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 November 20^th, 21^st and 22^nd,   2017.

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.

For more details please see the complete programme.

 Brains for Brain Foundation is proud to announce that  the Consortium Assembly of the International Rare Diseases Research Consortium (IRDiRC) has voted to appoint Maurizio Scarpa as a member of the IRDiRC Therapies Scientific Committee. 

IRDiRC teams up researchers and organisations investing in rare diseases research in order to achieve two main objectives – to deliver 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020. A new set of goals for 2017-2027 has been finalised and just  announced.

Brains for Brain is glad to share the new vision and goals of the International Rare Diseases Research Consortium (IRDiRC).

IRDiRC teams up researchers and organisations investing in rare diseases research in order to achieve two main objectives – to deliver 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020. A new  vision and a new set of goals for 2017-2027 has been finalised recently .

The new vision:

Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.

In order to work towards this bold and ambitious vision, IRDiRC has set three goals for the next decade:

1. All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline

 2. 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.

 3. Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients

for further information see the

IRDiRC_Goals 2017-2027 Press Release_20170808 v2 (1)

IRDiRC Goals – Social Media Text – 20170808 v2 (2)

Brussels June 21^st  2017_ MetaBERN is delighted to announce the appointment of its Coordinator, Prof Maurizio Scarpa, as the first Chairman of the European Reference Networks Board of Coordinators (ERN-BC)

The ERN-BC was officially formalized on April 26 2017 during the first meeting of the 24 established European Reference Networks. The board gives strategic direction that guide the operation of the ERNs. To this aim specific Working Groups were created and an initial discussion on the governance was initiated.

On June 21st in Brussels a second meeting was held to discuss among the other topics, the Governance of the ERN-BC and nomination of the leading structure and Maurizio Scarpa, MetabERN Coordinators, was nominated unanimously to be the first Chairman of the ERN-BC.

Prof Scarpa mandate will last one year from June 21 2017 during which he will share responsibilities with a Vice-Chair that will be shortly nominated by  the Board to assist him in performing duties and responsibilities. T

he Chairman role is mainly of coordination and he is responsible for providing leadership to, and overseeing the functioning of the Board ensuring that it acts in the best interests of the Group.

Prof Scarpa main key tasks are the following:

• liaise with all ERN Coordinators to gather input for the definition of the agenda of the ERN-BC
• collect feedback from Working Group Leads to circulate updates and prepare summaries for the European Commission on progress of work
• chair the ERN-BC meetings
• develop meeting reports and consensus documents
• represent the ERNs externally
• be the contact point for the EC with regards to the ERNs.

Brains for Brain Foundation is happy and proud to congratulate Prof Maurizio Scarpa, co-founder and President of the B4B Foundation, for the great achievement. 

Best of luck in what will surely be a great experience!!!

 24 European Reference Networks (ERNs) were formally launched on 9 March 2017. Representatives from the networks and Member States, along with patients and policymakers, gathered in Vilnius, Lithuania, for the 3rd ERN Conference and kick-off meetings (9 & 10 March).

Maurizio Scarpa, Coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN) discussed how ERNs could be cross-linked. The biggest challenges for many rare diseases is securing a diagnosis. For some conditions, it can take an average of 43,800 hours before a diagnosis is found. While the 24 ERNs are organised in a manner designed to reflect how medical specialties are grouped, many patients will require input from several 

ERNs. “There is crosslinking in nature,” said Dr Scarpa. “Nothing is isolated.” He said ERNs should be at the frontier of ‘network medicine’ – a new way of thinking of health which breaks down silos between disciplines and disease taxonomies. Tools must be developed to link the ERNs, including a shared virtual counselling system that allowed members of different ERNs to discuss complex cases. “ERNs are not a project or a programme they are a concept – a revolution in the understanding of rare diseases,” he said. “Don’t think of ERNs as discrete networks but as a large task force for sharing expertise.”

Full report of the Conference available at https://ec.europa.eu/health/sites/health/files/ern/docs/ev_20170309_frep_en.pdf

The Third Conference on European Reference Networks took place in Vilnius at the Lithuanian Exhibition and Congress Centre LITEXPO on  March 2017.

The audience was mainly constituted by clinicians, policy makers, ERN members, patients representatives, EU institutions representatives and other stakeholders.

The conference focused on the presentation of the newly approved European Reference Networks. The conference hosted 4 round tables to discuss on the EU dimension of the ERNS, how the EU, its policies and actions can support the networks, the integration of the ERNs with the various national healthcare systems and the way forward (full agenda available here).

The award ceremony for the recently approved ERNs took place in the evening.

The European Reference Network for Hereditary Metabolic Diseases (MetabERN, coordinated by Prof Maurizio Scarpa) is one of the 24 ERNs that have been officially launched during the conference. MetabERN is the first Pan-Europeans patient centered Pan-Metabolic European Network spanning 69 Health Care Providers in 18 EU countries. It is aimed to foster and optimise prevention, diagnosis, management, therapy of all metabolic disorders in Europe. The MetabERN has been approved by the European Commission on December 15th 2016 and acts as a tool for the EU policy making on rare diseases.

Brains for Brain Foundation is happy and proud to congratulate Prof Maurizio Scarpa, co-founder and President of the B4B Foundation, for the great achievement. 

B4B is proud to be part of this network!!!

5 pm. 10 March 2017_Helios Dr. Horst Schmidt Kliniken (HSK)-Center for Rare Diseases, Department of Pediatric and Adolescent Medicine in Wiesbaden, Wiesbaden (Germany)

Following the first call for proposals in July 2016, the MetabERN was approved in December 2016 and launched today in  Vilnius where the kick off meetings took place.

The Kick-off meeting aimed to give an overview presentation of the project’s objectives and to establish common ground of understanding, values and targets amongst partners, identifying potential problems which might arise during the project’s implementation and discussing the first year strategic plan in order to address them.

MetabERN represents the most comprehensive, inclusive and patient-orientated platform that will transform how care is provided to patients with metabolic diseases in Europe. 69 EU Hospitals from 18 countries joined synergies to set up MetabERN which will facilitate access to quality, affordable, cost-effective care across EU.

“We will change the way care is planned and provided to patients by bringing in the expertise of all relevant stakeholders, including Patient Associations and the Society for the Inborn Errors of Metabolism (SSIEM)” – said today Prof. Maurizio Scarpa, Director of the Rare Disease Center of the Helios Dr. Horst Schmidt Kliniken in Wiesbaden, Germany, coordinator of the MetabERN.

What is MetabERN?

The MetabERN is responding to the call for the establishment of European Reference Networks (ERNs) launched by the European Commission as laid down in  the Directive on the patients’ rights in cross-border healthcare  aiming to connect existing highly specialised healthcare providers across the European Union in the area of rare diseases. It represents 69 Founding Healthcare Providers from 18 European countries. MetabERN is committed to strengthen the cooperation among its members with the shared goal of improving the treatment and care for all patients affected by rare metabolic disorders in Europe and around the world.

What is the focus of MetabERN?  

Inherited metabolic diseases (IMDs) are a group of more than 700 genetic and often lethal disorders affecting children and adults. Their diagnosis is often incorrect or delayed leading to wrong therapies that can harm the patients. Accurate and timely diagnosis demand highly specialised expertise, specific physical examinations, and appropriate multidisciplinary investigations.

What does MetabERN do?

MetabERN ensures a join-up approach to care by bringing together pediatric and adult metabolic physicians across the EU to deliver the best available care to patients affected by IMDs.

To this end, MetabERN has established a multi-disciplinary and multi-stakeholder platform to improve standards of clinical management and strengthen referral systems, seek consensus on EU guidelines and Standard Operating Procedures, share knowledge in a structured way, encourage virtual counselling and promote new clinical trials for the development of innovative therapies.

An informative synopsis about the European Reference Network for Hereditary Metabolic Diseases (MetabERN) has been developed with the aim to make different stakeholders aware about the project objectives and potentiality. It is being distributed to a large community of people interested in Inherited NeuroMetabolic Diseases including Healthcare Professionals, Patients and Families Associations and Health Authorities and EU Institutions, leading Universities and Research Institutions and Industry Players.

You can download the electronic version of the synopsys by clicking here.

For more information please contact

Prof. Maurizio Scarpa, MD, PhD

MetabERN Coordinator

maurizio.scarpa@metab.ern-net.eu

We are pleased to announce the forthcoming 11th 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 Foundation is particularly promoting and coordinating research projects focused on the search of biomarkers for the understanding of pathophysiological process of neurometabolic disorders. Among the more than 500 types of hereditary metabolic diseases known today, the Foundation mainly focuses its attention on a group of about 40 genetically and biochemically very well characterised diseases, called Lysosomal Storage Disorders (LSDs).

According to its traditional programme, the workshop will be held in Frankfurt, Germany, since this venue is really well connected with all the countries and facilitates the participations of people from different parts of the world.

The meeting will therefore take place at the Hotel Holiday Inn, Frankfurt from March 29th to April 1st, 2017.

As usual, the programme will contain scientific and strategic sessions in which we the following issues wlil be discussed:

1.         Research achievements in the field of neurodegenerative diseases, in particular lysosomal storage disorders (LSDs) at clinical and basic science level and in the field of Blood Brain Barrier;

2.         New recent advances on natural history and pathophysiology of LSDs;

3.         Factors which control the entry into the brain of medicines and other therapeutic agents which may be helpful in treating central nervous system disease;

4.         How B4B and the European Union might collaborate to stimulate interest on research in rare diseases, and specifically we will have a session regarding the vision, the mission and the goals of European Reference Network for hereditary metabolic diseases (MetabERN) which is lead by Maurizio and involves 69 EU nationally certified Healthcare Providers from 18 countries. And we think that B4B will surely play an important role also in this project.

5.         The role of the industries in driving innovation for new therapeutic approaches for true unmet needs.

You can find a draft of the preliminary programme here.

 If you wish to attend the workshop, please get in touch with Mrs Paula Caprelli (p.caprelli@jazzitaly.com) asap for your hotel arrangements.

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

ERNs are unique and innovative cross-border cooperation platforms between specialists for the diagnosis and treatment of rare or low prevalence complex diseases.

Speaking to doctors, patients and the media at the University hospital in Leuven Belgium, Vytenis Andriukaitis, European Commissioner for Health and Food Safety, said: “Today, on European Rare Disease Day, I am particularly pleased to launch the European Reference Networks. As a medical doctor, I have too often been witness to tragic stories from patients with rare or complex diseases who were left in the dark, sometimes unable to find an accurate diagnosis and receive a treatment. I have also seen my colleagues struggling to help because they lack information and opportunities to network. These Networks will connect the considerable EU knowledge and expertise that is currently scattered between countries, making this initiative a tangible illustration of the added value of EU-collaboration. I am very confident that ERNs can light the way for rare disease patients, leading them to potentially life-saving and life-changing breakthroughs”.

24 thematic ERNs, gathering over 900 highly specialised healthcare units from 26 countries, will begin working together on a wide range of issues, from bone disorders to haematological diseases, from paediatric cancer to immunodeficiency. Joining up of EU’s best expertise on this scale should benefit every year thousands of patients with diseases requiring a particular concentration of highly specialised healthcare in medical domains where the expertise is rare.

To read the full article please visit http://europa.eu/rapid/press-release_IP-17-323_en.htm

For more information about ERN:

• MEMO: Questions and Answers about European Reference Networks
• Flyer
• Brochure
• Video Clip