BRAINS FOR BRAIN Onlus Foundation (B4B)

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MetabERN informative material

MetabERN Synopsis

MetabERN Synopsis

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

 

MetabERN is one of the 23 approved European Reference Networks For Rare Diseases

MetabERN Group

EUreferencenetwork_54_2289

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 Geographic Coverage 2

  • 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

 

Call for proposals: 7th NCL Research Award (NCL Foundation)

ankuendigung-bildThe NCL Foundation aims to help find a cure for the most prevalent form of childhood dementia caused by mutations in the CLN3 gene. Together with the existing NCL research community, NCL Foundation aims to move promising therapeutic avenues forward to help JNCL patients.

 CLN3 disease (Batten disease) belongs to a group of rare lysosomal storage diseases referred to as Neuronal Ceroid Lipofuscinosis (NCL). NCLs are the most common dementia-causing neurodegenerative diseases in children. All NCL forms including CLN3 disease lead inevitably to death. The first clinical manifestations of CLN3 disease typically begin with visual impairment starting around school age (5-6 years), and rapidly progressing to blindness. The disease gradually progresses to stages where children and teens develop seizures, cognitive deficits, motor deficits, loss of speech, and loss of communication capabilities. CLN3 patients in their teens become completely helpless, wheelchair bound, and eventually bedridden. Patients succumb to disease in the second or third decade of life.

 For the seventh time the NCL Foundation announces a call for its NCL Research Award (50,000 EUR) to support an innovative pilot project at the Postdoctoral fellowship level. We highly encourage junior scientists and clinical researchers worldwide to submit projects that hold promise to help halt, find or push forward a cure for CLN3 disease. We also encourage scientists to apply that work in disease areas outside NCL but relevant to elucidating the role of CLN3 or finding a cure for this disease.

 To find the application form visit: www.ncl-stiftung.de/main/pages/index/p/538

 Deadline for handing in all required documents: October 31, 2016

 

The European Reference Network for Hereditary Metabolic Diseases (MetabERN) is underway

MetabERN Group

EUreferencenetwork_54_2289On June 21st 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.

 

MetabERN Group69 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?

MetabERN Geographic Coverage 2The 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.

MetabERN Governace StructureThe 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?

ern_logo_eventpage_protraitThe 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

 

10th B4B Workshop and InNerMeD 3rd Open Conference

B4B - 2016

10th B4B Workshop and InNerMeD 3rd Open Conference

Brains for Brain Foundation (B4B), the organisation leading the “Inherited NeuroMetabolic Disease Information Network” (InNerMeD-I-Network) project, is pleased to announce that “The 10th B4B Plenary Workshop and InNerMeD Information Network 3rd Open Conference” will be jointly held in Madrid on March 16th – 19th 2016 at the Hotel Rafael Atocha.

The meeting aims to enable information exchange among clinicians, basic scientists and experts specialised in inherited neurometabolic diseases (iNMDs), pharmaceutical companies and family associations.

As usual, the programme will contain scientific and a strategic sessions on the following main topics:

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;

  • New recent advances on natural history and pathophysiology of LSDs;
  • Factors which control the entry into the brain of medicines and other therapeutic agents which may be helpful in treating central nervous system disease;
  • How B4B and InNerMeD partners might collaborate with the European Union to stimulate interest on research in rare diseases;
  • The role of the industries in driving innovation for new therapeutic approaches for true unmet needs.

Moreover, this year the programme includes a Plenary Session to mark the retirement of Prof. David Begley. This special session will reflect David’s major scientific contributions, and will consist of a mix of review lectures and contributions on new developments on Blood Brain Barrier and the delivery of therapeutics to the brain.

The session dedicated to InNerMeD project will see the participation of representatives of the European Commission and European Organizations to discuss the important issue of the dissemination of scientific information in the field of rare disease.

The detailed programme of the event is available hereBrains For Brain 2016

 

BRAIN AWARENESS WEEK

BAW_Header

THE BRAINS FOR BRAIN ONLUS FOUNDATION PROMOTES THE BRAIN AWARENESS WEEK
March 14-20, 2016

BAW_2016_NoOrgEvery March, Brain Awareness Week (BAW) unites the efforts of partner organizations worldwide in a week-long celebration of the brain. BAW is a worldwide global campaign promoted by Dana Alliance for Brain Initiatives (Dana Foundation) and  European Dana Alliance for the Brain aimed to raise public awareness about the progress and benefits of brain research.

B4B Foundation is one of the official partners of the BAW and every year actively celebrates it  joining forces to raise awareness of rare pediatric neurological conditions.

Rare paediatric neurological diseases represent an unknown public health issue in Europe. Overall, there are thousands of rare diseases that affect a large number of people. About four million people in Germany and 30 million in Europe are estimated to suffer under one of 8.000 actually known rare diseases. But their seldom appearance makes it a great challenge for modern medicine. Often, the diseases are multisystemic and there are no main symptoms. Therefore a complex and interdisciplinary collaboration in diagnosis and treatment is necessary.

Given the general lack of knowledge and expertise about these conditions it’s extremely important to promote awareness, among physicians and general public, about these disorders.

To this aim,  B4B, which is also the  organisation leading the Inherited NeuroMetabolic Diseases Information Network (InNerMeD-I-Network) project (www.innermed.eu), has organized  the  B4B & INNERMED meeting that will take place at the Hotel Rafael Atocha in Madrid, Spain, on March 16-19, 2016.

The programme will contain scientific and strategic sessions in which we will discuss:

1. Research achievements in the field of neurodegenerative diseases;

2. New recent advances on diseases natural history and pathophysiology ;

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 InNerMeD partners might collaborate with the European Union to stimulate interest on research in rare neurological diseases;

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

Moreover,  the programme includes a Plenary Session to mark the retirement of David Begley. This special session will reflect David’s major scientific contributions, and will consist of a mix of review lectures and contributions on new developments on Blood Brain Barrier and the delivery of therapeutics to the brain.


The establishment of an open dialogue among patients affected by rare diseases and their families, together with public authorities, researchers, health professionals, industry representatives and anyone who has a genuine interest in rare diseases  constitutes an important strategic action for overcoming the knowledge gap in the field of rare diseases.

B4B and InNerMed firmly believe that it is fundamental to manage rare diseases in an expert multidisciplinary setting where research, knowledge and expertise are easily shared,  assuring the best health outcomes for each patient.

Stay tuned for more updates

T download the scientific programme of the event click here :Brains For Brain 2016

 

B4B IS A FRIEND OF RARE DISEASE DAY!

 

B4B IS A FRIEND OF RARE DISEASE DAY!

Celebrated on the last day of February–the rarest day on the calendar–this is the one day every year when the world comes together to improve the lives of people living with rare diseases.

On 29th February 2016 the international rare disease community celebrates the ninth Rare Disease Day, coordinated by EURORDIS.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

rdd-logoSince Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries. Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation in over 80 countries around the world in 2015. This number will hopefully increase with many new partners in 2016. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.

 The Rare Disease Day 2016 theme “Patient Voice” recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers. The Rare Disease Day 2016 slogan “Join us in making the voice of rare diseases heard” appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.

mugs-r7bbfd3a5b7f74d7eb22d000b017967bd_x7jgr_8byvr_500B4B welcomes this initiative and is pleased to contribute to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Due to the fragmentation of knowledge, it can take years before a patient affected by rare diseases get diagnosed. B4B considers the promotion and the coordination of Research extremely important for health care system, and particularly for Rare Diseases, since they represent the tools by which speed up the achievements of results in research and benefits for patients.  This year Rare Disease Day encourages us to continue finding ways to work together to provide the different kinds of care that people living with a rare disease need.
B4B has done and will continue to do big efforts in order to encourage clinicians to work together in the most effective and efficient way in order to produce the best health outcomes for the patients.

For more info about the rare disease day please visit http://www.rarediseaseday.org/

10th B4B Workshop- Attendance and Contacts

attendance and contacts10th anniversary of the Brains for Brain Foundation

We are pleased to announce that in these days, we are drafting the scientific program of the next B4B meeting that will take place at the Hotel Rafael Atocha in Madrid, Spain, on March 16-19, 2016.
As usual, the programme will contain scientific and a strategic sessions in which we will discuss:
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 InNerMeD partners might collaborate with the European Union to stimulate interest on research in rare diseases;
5. The role of the industries in driving innovation for new therapeutic approaches for true unmet needs.

Moreover, this year the programme includes a Plenary Session to mark the retirement of David Begley. This special session will reflect David’s major scientific contributions, and will consist of a mix of review lectures and contributions on new developments on Blood Brain Barrier and the delivery of therapeutics to the brain.

To download the Scientific Programme click hereBrains For Brain 2016

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

Contrary to the last few editions of the Meeting, we are working with a new hotel (in a different city) so we need to know the number of participants as soon as possible since we must confirm with the hotel management.
Please get back to her shortly with the dates of your attendance, as well as your travel info (if you already have it), so we can book the rooms, meals and meeting services.

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

Thank you for your collaboration

 

To download the Scientific Programme click hereBrains For Brain 2016

 

The Pathobiology of the Lysosome and Lysosomal Diseases Conference, 7th – 10th July 2016

External-view.-FVW2 The Pathobiology of the Lysosome and Lysosomal Diseases Conference 2016 shall take place at Clare College, Cambridge, UK in July 2016

This conference will present an overview of recent progress in the understanding and management of lysosomal storage disorders. Internationally renowned scientists will cover subjects ranging from the basic biology and pathophysiology of this group of disorders to discussions of animal models, genetics, advancements in treatment, and pharmacoeconomic challenges posed by rare diseases in general and lysosomal disorders in particular.

Dont miss out on this fantastic speaker line-up, click here to view the speakers. You can also submit an abstract, oral or poster, before 7th May 2016.

For more info visit http://www.zingconferences.com/conferences/the-metabolic-role-of-the-lysosome-and-nutrient-sensing/

A Plan to facilitate and encourage research in iNMDs

InNerMeD-participated-in-the-public-Consultation-on-Gaucher-Disease

InNerMeD-participated-in-the-public-Consultation-on-Gaucher-Disease

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.