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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

Today is Rare Disease Day 2017!

Today, with events taking place in over 90 countries all around the world, we hope to raise more awareness than ever for rare diseases!

With the theme of research, and the slogan, ‘With research, the possibilities are limitless’, #RareDiseaseDay 2017 is an opportunity to call on all researchers, universities, students, companies, policymakers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.

This year’s Rare Disease Day video, which has been viewed over a hundred thousand times and translated into over 30 languages,  draws a parallel with a routine that many of us go through multiple times a day – searching for an answer on the internet. The video highlights how isolating it is when you search on the internet but receive the response ‘your search had no results’. It also highlights the hope and promise that comes with additional research into rare diseases, something that must be continuously strived for. 

This year, on the tenth edition of the day, Rare Disease Day events will be held for the first time in four African nations, Botswana, Nigeria, Senegal and Sudan. Events will also be held for the first time in Saint Pierre and Miquelon.

The 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@helios-kliniken.de

On 15th December the Board of Member States of European Reference Networks (ERNs) voted to approve all 23 ERN proposals submitted under the first wave (the 24th proposal, submitted under the 2nd call, will be assessed early in 2017).

This momentous step comes after years of collaboration and efforts between rare disease patients, clinical experts and policy makers in EU Member States, at the European Commission and the European Parliament to bring the ERNs to fruition.

European Reference Networks are networks connecting expert centres in the field of rare diseases and specialised healthcare, organised across borders. This concept has been developing and maturing over the past five years and represents a major innovation in care for Europe’s 30 million rare disease patients: although pan-European structures exist in the research domain, this is the first such enterprise in the health sphere. The Networks will create governance structures for knowledge sharing and care coordination across the EU to improve access to diagnosis and treatment, as well as high-quality healthcare provision. ERNs have been organised around broad disease groups, to ensure that no patient with a rare disease is left ‘without a home’ under an ERN.

This is a major innovation for rare diseases in Europe, involving 370 hospitals and almost 1000 highly specialised units across 26 Countries (25 EU Member States + Norway).

The full list of approved ERN applications is available via the official European Commission webpage.

The European Reference Network for Hereditary Metabolic Diseases (MetabERN) represents the first most comprehensive, pan-metabolic, pan-european, patient-orientated platform ever conceived, that will transform how care is provided to patients with inherited metabolic diseases (IMDs) in Europe.

• MetabERN represents 69 founding nationally certified Healthcare Providers from 18 European countries, 44 Patients Organisations and is endorsed by the Society for the Inborn Errors of Metabolism. 
• MetabERN involves 1681 experts, of which about 52% are specialized medical doctors (particularly pediatrician, geneticist, neurologist and metabolic physicians).
• 42.427 are the patients managed by the MetabERN, 68%of which represented by pediatric patients. More than a half of the patients are affected by lysosomal disorders or aminoacid and organic acids related disorders diseases (23% and 39% respectively).

All Inherited Metabolic Diseases (IMDs), with no exclusion, are of interest for the MetabERN, independently from their prevalence, frequency and existing previous interest for research or therapy development.

Considering the complexity of the IMDs field as a whole, the group of more than 700 ultra rare metabolic diseases are structured in 7 subnetworks:

1. Aminoacid and organic acids related disorders

2. Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism

3. Carbohydrate fatty acid oxidation and ketone bodies disorders

4. Lysosomal disorders

5. Peroxisomal and lipid related disorders

6. Congenital disorders of glycosylation and disorders of intracellular trafficking

7. Disorders of Neuromodulators and Small Molecules.

In disease-specific networks professionals and patient associations will collaborate to transversal programs common to all the subnetworks. Patient organizations will work in close collaboration with Healthcare Professionals to map and understand patients’ needs and identify solutions.

MetabERN aims to:

• Accommodate and interconnect expertise across Europe at the service of IMD patients,
• Harmonise data collection across participating European centres,
• Establish common approaches to optimise prevention, diagnostics, management and treatment,
• Develop and implement harmonized guidelines,
• Stimulate cross-border research and innovative treatments
• Develop training and education opportunities especially in Member States where it is lacking,
• Interact closely with patients to serve as a reliable source of information and involve them in the planning of their individual care pathways and decision-making.

For these reasons, the MetabERN will be instrumental to facilitate and harmonize patients’ access to diagnosis and best treatment and to designing a collaborative govermental structure with patients, academia, politics, insurance companies and industry.

For more information please contact

Prof. Maurizio Scarpa, MD, PhD

MetabERN Coordinator

Maurizio.Scarpa@helios-kliniken.de

On June 21^st 2016, the Helios Dr. Horst  Schmidt Kliniken has submitted a proposal to the European Commission aimed at establishing the European Reference Network on Hereditary Metabolic Diseases (MetabERN). The MetabERN represents the first most comprehensive, pan-metabolic, pan-european, patient-orientated platform ever conceived, that will transform how care is provided to patients with inherited metabolic diseases (IMDs) in Europe.

69 EU nationally certified Healthcare Providers from 18 countries joined synergies to set up the 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 the expertise of all relevant stakeholders, including Patient Organizations, directly to patients. We are pleased to count on the collaboration of the Society for the Inborn Errors of Metabolism (SSIEM), the most acknowledge international society in the field, which will bring ideas and innovation after his more than 2000 members worldwide. The SSIEM has endorsed the MetabERN and will play a major role in the planning of the activities of the network with the support of its experience and worldwide representation. At the moment, “only” 69 Healthcare Providers were admitted to the network, but the EC has promised that, soon after the approval, all the hospitals willing to participate can do so, according to the EC rules, we are inclusive, there is a huge amount of work to do and we open to any hospital which wishes to work with us giving their experience to the service of the patients” – said 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. It aims 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. Additional Members, bearing the endorsement of the proper national agency and fulfilling the EC requiremetns, will be admitted after the approval of the network by the EC. In fact, the MetabERN is an inclusive network, 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. Patient Organizations will work in close collaboration with Healthcare Professionals to map and understand patients’ needs and identify solutions.

  What is the focus of MetabERN?  

As known, 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. All IMDs, with no exclusion, are of interest for the MetabERN, independently from their prevalence, frequency and existing previous interest for research or therapy development.

The structure of the MetabERN is such to portion the metabolic field into  7 subnetworks: 1) Aminoacid and organic acids related disorders; 2) Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism; 3) Carbohydrate fatty acid oxidation and ketone bodies disorders; 4) Lysosomal disorders; 5) Peroxisomal and lipid related disorders; 6) Congenital disorders of glycosylation and disorders of intracellular trafficking; 7) Disorders of Neuromodulators and Small Molecules. The subnetworks will be articulated in disease-specific working groups in which professional and patient associations will collaborate to transversal programs common to all the subnetworks.

What does MetabERN do?

The MetabERN will ensure 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 at the patient´s bed.

To this end, the MetabERN has established a multi-disciplinary and multi-stakeholder platform including Patient Organizations and Scientific/Medical Organizations to foster transversal program among the subnetworks aimed 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, generate epidemiological studies and registries, facilitate diagnosis of new diseases, empower patients and help the transition process from youth to adulthood,  encourage virtual counselling, design new pathways for training and education,  facilitate research programs  and promote innovative clinical trial design  for the development of innovative therapies and evaluate efficacy and safety of drugs in independent way.

Furthermore, the MetabERN aims to help all patients to better access to therapy by helping the MS in designing an economical strategy for the sustainability of rare diseases.

There is work for everybody:

For more information please contact

Prof. Maurizio Scarpa, MD, PhD

MetabERN Coordinator

Maurizio.Scarpa@helios-kliniken.de