Senza categoria | Brains for Brain

21/07/2014

Rare Wednesdays at HSK, Dr Horst Schmidt Klinik

Rare diseases are characterized not only by their low prevalence but also by their wide heterogeneity and complexity. They often show a broad clinical spectrum with respect to severity of symptoms, progression and age of onset. The identification of affected patients is therefore a not simple and easy task.

Horst Schmidt Klinik, in collaboration with Brains for Brain Foundation, is organizing a series of monthly seminars to be regularly held on the third Wednesday of each month (for more precise and detailed information please see the list of appointments reported below).

Events will allow participants to learn from top neuroscientists and expert researchers and clinicians news on latest scientific findings on rare diseases.

The seminars aim to stimulate an interdisciplinary collaborative effort essential for analyzing all new diagnostic, therapeutic and technological strategies. The social and scientific relevance of such effort consists in the creation of best conditions for a dynamic exchange of knowledge and expertise aimed to assure a patient’s timely and accurate diagnosis and successful disease management meant for producing the best health outcomes for the patients.

Tentative agenda

Site: HSK, Kinderklinik Library

Time 1pm to 2 pm.

DATE	SPEAKER	TITLE
JULY 16, 2014	MAURIZIO SCARPA, Wiesbaden	Introduction to rare diseases and their treatment
SEPTEMBER 17, 2014	CHRISTINA LAMPE, Wiesbaden	Suspect, Diagnosis and treatment of lysosomal storage diseases
OCTOBER 22, 2014	MATTHIAS BAUER, Ludwigshaffen	Mitochondrial diseases: when should us suspect them?
NOVEMBER 19, 2014	TORSTEN MARQUARDT, Muenster,	Diagnosis of new rare diseases: from suspect to diagnosis
DECEMBER 17, 2014	ROLF ARNDT, Rostock	New methods for the diagnosis of rare diseases
JANUARY 21, 2015	KLAUS MONIKE, Margdeburg	Growth, Endocrinology and rare diseases
FEBRUARY 18, 2015	ALFRIED KOLSCHUTTER, Hamburg-Freiburg	Brain and rare diseases: The Leukodistrophies ,
MARCH 11, 2015	TBC	Liver and Rare Diseases (TBC)
APRIL 15, 2015	JOHANNES BERGER, Wien	Suspect and Diagnose of Organelle Diseases
MAY 20, 2015	FRITS. WIJBURG, Amsterdam	Suspect, Diagnosis and treatment of neuromuscular diseases

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13/06/2014

EMA and FDA joint proposal for clinical investigation of new medicines for Gaucher disease in children

by brains4brain

The European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) have released a draft joint proposal to facilitate the clinical investigation of new medicines for the treatment of Gaucher disease in children.

Gaucher Disease (GD) is a rare inherited metabolic disorder caused by mutations in the glucocerebrosidase gene resulting in decreased activity of the glucocerebrosidase, an enzyme localised in the lysosome that normally breaks down a fatty waste product called glucocerebroside. This enzyme deficiency therefore leads to the accumulation of glucocerebrosides in the body, typically in the liver, spleen and bone marrow. The severity of the disease is extremely variable with a wide range of symptoms. Historically, GD has been classified into three types but today it is mainly considered as a disease that encompasses a continuum of clinical findings from an asymptomatic type (only detectable by genetic analysis or enzyme deficiency) to a severe perinatal lethal disorder.

There is a high unmet medical need for children with neurological symptoms, in particular for new routes of administration that would reduce the treatment burden.

A number of medicines are under development for the treatment of GD; however, since it is a rare condition, recruitment of children in clinical trials has been shown to be difficult.

To address this issue, the joint proposal discusses two complementary approaches:

the extrapolation of efficacy from adults to children which would include the use of modelling and simulation approaches. The EMA and FDA consider that the primary rationale for extrapolation is to avoid unnecessary studies in children for ethical reasons, to increase efficiency, to reduce the burden on children, and to ensure that resources are allocated to areas where studies are most needed;
the possibility to conduct multi-arm, multi-company clinical trials to determine the safety and efficacy of several new medicines at the same time. This approach would allow reducing the total number of children to be included in trials, compared to separate controlled trials, as the same control arm would serve more than one medicine under evaluation. A proposed design for such trials is included in the document.

The proposal, in particular, aims not only to facilitate a rapid and smooth agreement of an EMA Paediatric Investigation Plan and FDA Paediatric Study Plan, but also to investigate the feasibility of developing multiple medicines for a rare disease in a shorter timeframe and in a limited number of patients, thereby reducing the burden on children and families.

Sponsors who wish to incorporate these innovative approaches in their development plan are advised to contact the regulatory authorities to get scientific advice. Sponsors have the possibility to approach the EMA or the FDA separately or to request parallel scientific advice from the two regulatory authorities if they wish.

Public consultation is open until 31 August 2014.

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03/04/2014

SIGNING OF A COLLABORATION AGREEMENT BETWEEN THE INTERNATIONAL RESEARCH FOUNDATION BRAINS FOR BRAIN AND RARISSIMAS

by brains4brain

During his last appointments at the EU Parliament in Bruxelles, Dr Maurizio Scarpa, expert in the field of rare neurological disorders and President of the B4B Foundation, had been invited by MEPs Maria da Graça CARVALHO and Paula Brito e Costa, President of the Rarissimas – the Portuguese National Association for Mental and Rare Diseases– to visit Portugal and participate to an important workshop on Rare Diseases that took place over the third weekend of March 2014. The workshop, organized by Rarissima, was also attended by MEPs Maria da Graça Carvalho, that accompanied Dr Scarpa visit and gave a talk entitled: Diseases of Lysosome under the 2020.

The Meeting represented a great opportunity to promote a closer collaboration between experts in the rare disease field and researchers from different countries and culminated with the signing of an agreement of collaboration between Brains for Brain Research Foundation and Rarissimas.

Rarissimas provides aid for sick persons and families with Rare Diseases who assemble together. Raríssimas was founded in 2002 by a group of mothers of children suffering from a rare disease. It was registered as an NGO in 2003. Its headquarters are in Lisbon, but there are two other Delegations (Oporto and Azores). Raríssimas has 3 Rehabilitation Centres and a Helpline – Linha Rara-, distinguished for the 2nd year at a European level. Raríssimas is a founding member of FEDRA – Portuguese Federation of Rare Diseases Associations-, a member of Eurordis and Cornelia de Lange Syndrom Foundation.

One of the Association main achievement is the project “Casa dos Marcos”, a sheltering home for adults and/or young/adults, bearers of rare diseases, lacking in support and in intellectual or leisure activities. The Resources Centre, located in Moita, near Lisbon, is also a home for sick persons suffering rare pathologies after the death of their parents. It is has been conceived as a space where people affected by a rare disease can develop the skills that will allow them to integrate into society and live lives that are as normal possible. The Casa dos Marcos also serves as a residence for those that require intensive care.

The signing of a international collaboration agreement in the context of scientific research, in a difficult and complex world such as those of Rare Diseases, represents a major breakthrough for the many patients affected by these diseases.

As noted in a comment by the President of the B4B, Dr Maurizio Scarpa, the agreement is a great chance to “promote cooperative researches and projects and to exchange our knowledge”. In the same sense, the President of the Rarissimas , has commented that the agreement “represents an important first step toward the establishment of a fruitful and concrete collaboration between the two Organizations” .

Such resolute commitment aims to improve the quality of life of individuals with a rare disease through a concerted effort to address the challenges associated with taking care of affected patients. This will require cooperation and communication across all relevant sectors in the different countries.

It is beyond any doubt that the agreement provides also opportunities for joint action toward the development of new therapeutic strategies in the area of rare pediatric neurological disease, in particular lysosomal disorders.

Senza categoria

07/01/2014

NEW OPPORTUNITY FOR RARE DISEASES IN EUROPE

by brains4brain

A NEW OPPORTUNITY FOR THE DIAGNOSIS AND THERAPY OF RARE DISEASES IN EUROPE: THE HSK CENTER FOR RARE DISEASES AND THE BRAINS FOR BRAIN CLINICAL RESEARCH INSTITUTE

On January 1st 2014 a new specialized Center for Rare Diseases has been opened in Wiesbaden, Hessen, Germany.

This new opportunity for patients affected by Rare Diseases, in particular those affecting the Central Nervous System, is offered after a collaboration of two key opinion leaders in the field of Neurodegenerative disorders: Prof. Maurizio Scarpa MD PhD from the University of Padova, Italy and Dr. Christina Lampe MD from the University of Mainz, Germany, joining their expertise to the Department of Pediatrics at the Horst Schmidt Klinik (HSK), lead by Prof. Markus Knuf.
The new Center is located in Wiesbaden, 30 km far from Frankfurt.

The HSK is a hospital of maximum care with 21 specialist clinics and 4 institutes (in total 1030 beds). The Children’s Hospital of the HSK has 110 pediatric beds and 2 intensive care units. The Hospital offers all assessments needed to take adequate care for patients with multisystemic diseases. There is already a full neurological workup with all needed assessments available as well as a very experienced pediatric neurosurgical unit. The Center is part of the Children’s Hospital of the HSK and is in collaboration with all other Clinics of the HSK that are needed for the management of multisystemic and progressive diseases. The HSK is one of the certified centers for patients with tuberous sclerosis and other neurological disorders.
Beside organizing a multidisciplinary rare disease team, the Center is aimed to facilitate and speed up diagnosis, management and treatment for national and international rare disease patients. A major goal will be to improve the patients’ and their families’ quality of life and be the elective meeting point for stakeholders. Furthermore, the Institute will host a basic and clinical research unit for neurological diseases such as neurometabolic and neurodegenerative disorders, inborn malformations and epileptic encephalopathies.

The Center will be integrated with the Brains For Brain Clinical Research Institute, as a joint venture with the Brains For Brain Foundation (B4B) (www.brains4brain.eu). The B4B Clinical Research Institute at the HSK will be the site for basic and applied research projects, organization of clinical trials and educational programmes concerning Rare Diseases including presentations, seminars, meetings, journal clubs, scientific evenings etc. to increase awareness knowledge and interest in rare diseases.
At our knowledge, the Center for Rare Diseases at the HSK is the first non-university Rare Disease Center in Europe.
In order to follow the recommendations of the National Action Plan for Rare Diseases in Germany (published August 2013) aimed at the establishment of a structure of certified centers, the Center is in collaboration with the Network for rare diseases localized at the University of Magdeburg. The network with other hospitals and the sharing of different expertise in the field of Rare Diseases will lead to a better and more specialized care of rare disease patients. The HSK Center for Rare Disease and the Brains For Brain Clinical Research Institute represent a good example of the new concept of medicine based on the collaboration of excellences to create the critical mass needed to improve the management and the quality of life of rare patients.

For more information please contact Prof. Maurizio Scarpa (maurizio.scarpa@hsk-wiesbaden.de) and/or Dr. Christina Lampe (christina.lampe@hsk-wiesbaden.de)

Address:
Zentrum fr selteneErkrankungen
Klinikfr Kinder und Jugendliche
Dr. Horst Schmidt Kliniken
Ludwig-Erhard-Str. 100
65199 Wiesbaden, D

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04/04/2013

Inherited NeuRoMetabolic Diseases Information Network

by brains4brain

Inherited NeuRoMetabolic Diseases Information Network (InNerMeD-I-Network, 2012 12 12, Second Health Programme 2008-2013).

Inherited NeuRoMetabolic Diseases Information Network (InNerMeD-I-Network ) is an European project funded within the Second Health Programme of the European Commission by the Directorate-General for Health & Consumers (DG SANCO). It started on the 1st of April 2013 and was officially kicked off in Luxemburg on May 21st 2013. InNerMed project is aimed to create a multimedial network of information targeted on research, diagnosis and treatment of inherited neurometabolic diseases.
Inherited NeuroMetabolic Disorders (iNMDs) represent an important group of Rare Diseases constituted by genetic metabolic disorders showing clinical neurologic/cognitive symptoms at any time during the progression. They are mostly associated with high morbidity and mortality rates hence representing a significant burden on patients, their families, the health care system, and the society. Most patients, in fact, begin showing signs of the disease early in childhood, often in the first year or two of life. CNS pathology in particular causes mental retardation and progressive neurodegeneration that ultimately ends in early death of these young patients. Today, available therapies capable of arresting the disease natural course exist but many of them are efficacious only if administered before neurodegeneration becomes irreversible. Timely diagnosis and early treatment are therefore crucial.
Increasing awareness is therefore the first key step in fighting these conditions. Unfortunately, because of iNMDs low-prevalence, there is often lack of information about these conditions and it remains difficult to find clinicians knowledgeable about the diagnosis, management and treatment of these conditions. Getting a correct diagnosis is one of the major challenges for affected children: it can take several years from the time of first symptoms to the one of disease recognition and initial treatment. During this long and frustrating period, families frequently seek advice from numerous doctors and consult different specialists often receiving diverse incorrect diagnoses.
To this aim, InNerMeD-I-network wants to create a network of information targeted on diagnosis and treatment of iNMDs based on the collection and exchange of proper information among scientific community, health professionals, patients, patients association and all other interested stakeholders active in the field of iNMDs.

THE PARTNERS
InNerMeD-I involve a formidable concentration of competences combining partners specific expertises.
The partnership includes both public and private referral clinical centres:

the Brains for Brain Foundation, coordinator and main leader partner, thanks to its great expertise gathered in the neurological field and its long-standing experience in the exploitation and dissemination of new scientific knowledge and contribution to the implementation of EU research activities particularly assures the partners coherence and capacity to share decisions and to put together relevant knowledge and research capacity;
the Benzi Foundation, strategic partner for the management and for the set up of the ICT platform. The Benzi Foundation has extensive experience in the realisation and management of IT tools. It supported TEDDY NoE (FP6 project) and currently supports GRIP (Global Research in Paediatrics, FP7 project started on January 2011) in the realization of e-learning courses.
the Center for Metabolic Disorders at the University of Copenaghen (RH) covers the whole of Denmark concerning diagnosis, biochemical monitoring, clinical evaluation and treatment of patients with metabolic disorders, and in particular with Lysosomal Storage Disorders;
the Center for lysosomal storage disorders at the University of Mainz (UMC-M) takes care of about 800 patients with lysosomal storage disorders, and participates in clinical trials for enzyme replacement therapy as well as in several EU projects;
the University of Zagreb School of Medicine (UZSM) is the oldest educational institution for medical training and research in the South-East Europe and works actively in biomedical research;
the Hospital Sant Joan de Déu (HSJD) is the Spanish referral center for Neurometabolic diseases and paediatric care.

The Network will contribute to reduce the knowledge gap affecting iNMDs in different ways:

providing a critical mass of competences, instead of a dispersed expertise;
providing validated customized information at all levels about iNMDs;
stimulating innovative research projects to enforce European leadership on iNMDs;
fostering the identification of group of patients to be included in biomedical research (registries and clinical trials);
translating scientific breakthroughs into clinical practice;
generating social benefit to the aim of establishing a standard of care for patients with iNMDs across Europe.

InNermed objectives of increasing current knowledge on iNMDs will be mainly achieved by the collection, harmonization, simplification, validation, organization and dissemination of all the available scientific data and information on iNMDs, including those regarding

centres of expertise,
websites of reference,
recommendations,
guidelines,
and all data on diagnosis and treatment of iNMDs.

The strength of InNerMed project relies on its capacity of creating a reference tool for further interesting activities to be developed after the project will be ended such as:

a unique European network that will facilitate research in the iNMD area;
the generation of new data on epidemiological and genetic aspects;
the provision of informative and consultative support to pharmaceutical companies and Health Institutions;
setting-up a Paediatric Network for developing trial and research.

Such Initiative represents an important step forward the establishment of a fruitful collaborative EU networking and cooperation to raise awareness about iNMDs and keep them on the health-care agenda. Although iNMDs are by definition individually rare, collectively they affect millions of people worldwide. A joint effort to tackling rare diseases, including pooling and coordinating of information and scientific resources, is essential to ensure that affected patients are given the priority they deserve and that their needs are met.

ROLE OF THE B4B FOUNDATION
B4B is the organization leading the InNerMeD project and thanks to its meaningful expertise in the management of projects and its long-standing experience and solid clinical competence in the field of child neurological disorders assures the partners coherence and ability to share decisions and put together relevant knowledge and research competences.
In particular, because of its solid experience in developing and fostering networking and collaboration of synergy among research centres and experts and its capacity in
strengthening the tie between basic and clinical research in the neurological field, B4B is leader of WP1 and WP2 with the following roles and responsibilities:

WP1 – Coordination of the project
B4B provides the scientific leadership of the overall project assuring the good scientific, administrative, technical coordination and management of the project, closely monitoring integration activities and joint research in order to ensure that the network is operating effectively and to confirm that milestones and deliverables are being achieved (or recommend corrective action if necessary).

WP2 – Dissemination of the project
B4B is responsible for the exploitation and dissemination of new scientific knowledge according to the detailed dissemination plan developed at the beginning of the project which is finalised to maximize the impact of the project and to increase its awareness among the different stakeholders. In particular, B4B is in charge of spreading awareness about objectives and potentiality of the project and disseminating deriving achievements and results within a large scientific and lay community including patient and Health Authorities. Several dissemination strategies will be undertaken to ensure the appropriate propagation of the main topics and in particular: the keywords to be mentioned in the activities; the iNMDs specific characteristics (genetic, disabling, sharing among them diagnostic tools and biomarkers, therapeutic orphan, etc); the low awareness on the current situation of the major stakeholders including health authorities; the need to identify new markers and to develop multinational/multidisciplinary research; the need to inform and empower patients and their families; the development of collaborations among all involved stakeholders, including Financing Bodies.

To Download the electronic PDF of informative leaflet about the InNerMed-I-Network project please click here.

For more information:

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All posts in Senza categoria

DATE

SPEAKER

TITLE

JULY 16, 2014

MAURIZIO SCARPA, Wiesbaden

Introduction to rare diseases and their treatment

SEPTEMBER 17, 2014

CHRISTINA LAMPE, Wiesbaden

Suspect, Diagnosis and treatment of lysosomal storage diseases

OCTOBER 22, 2014

MATTHIAS BAUER, Ludwigshaffen

Mitochondrial diseases: when should us suspect them?

NOVEMBER 19, 2014

TORSTEN MARQUARDT, Muenster,

Diagnosis of new rare diseases: from suspect to diagnosis

DECEMBER 17, 2014

ROLF ARNDT, Rostock

New methods for the diagnosis of rare diseases

JANUARY 21, 2015

KLAUS MONIKE, Margdeburg

Growth, Endocrinology and rare diseases

FEBRUARY 18, 2015

ALFRIED KOLSCHUTTER, Hamburg-Freiburg

Brain and rare diseases: The Leukodistrophies ,

MARCH 11, 2015

TBC

Liver and Rare Diseases (TBC)

APRIL 15, 2015

JOHANNES BERGER, Wien

Suspect and Diagnose of Organelle Diseases

MAY 20, 2015

FRITS. WIJBURG, Amsterdam

Suspect, Diagnosis and treatment of neuromuscular diseases