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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

Since inherited neurometabolic diseases (iNMDs) are rare diseases affecting a small population of patients, their recruitment in biomedical research, including clinical trials, is getting more and more difficult, due to geographical dispersion and economic, methodological and ethical barriers. To provide a plan to facilitate and encourage research in the field of iNMDs, facilitating the identification of group of patients (target populations) to be involved in future clinical studies and other researches, an inventory of target populations and methodological recommendations on how to conduct clinical research on iNMDs has been developed and finalised by Prof. Adriana Ceci and Dr. Viviana Giannuzzi (Fondazione per la Ricerca Farmacologica Gianni Benzi onlus) in the context of the InNerMeD WP7 (Activities favouring biomedical research). The document also includes ethical recommendations to conduct studies involving iNMD patients with the highest ethical standards. The document addresses researchers (both from companies and research centres), Ethics Committees, patients and families. Importantly these ethical recommendations have been extended to patients affected by other rare diseases as well as non-EU patients.

To download the document click here.