European Conference on Rare Diseases 2007 in Lisbon

Take Home Messages for Action

François Houÿez — 2008-06-26T13:21:12Z

This page contains summaries of the presentation for the category "Take Home Messages for Action" as well as links to the documents.

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This page will be updated soon.

Recent Advances Quality Assessment relevant to Rare Diseases

François Houÿez — 2008-02-15T11:44:18Z

This page contains summaries of the presentation for the category "Recent Advances Quality Assessment relevant to Rare Diseases" as well as links to the documents.

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Isabelle Moulon (United Kingdom)

Assessing the quality of information on medicines for patients

Presentation-Moulon.pdf

Prof. Thomas Wagner (Germany)

Assessing the quality of Centres of Expertise outcomes

Presentation-Wagner.pdf

Alastair Kent (United-Kingdom)

Assessing the quality of information on genetic testing

Presentation-Kent.pdf

Policy and implementation: European, Regional, State and Local Policy

François Houÿez — 2008-02-15T11:42:47Z

This page contains summaries of the presentation for the category "Policy and implementation: European, Regional, State and Local Policy" as well as links to the documents.

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Dr Ségolène Aymé (Europe)

Overview of Member States public health policies for rare diseases: a 2007 update

Presentation-Aymé-pdf

Dr Birgit Wetterauer (Germany)

Overview of national research policies and collaboration between Member States

Presentation-Wetterauer-pdf

Dr Monica Mazzucato (Italy)

Estimating the impact of Rare Disorders on population health: an Italian experience ,European, Regional, State and Local Policy

Keywords: Register, Hospital Discharge Records, ICD codes, prevalence

Summary: The study estimates the impact of RD on population’s health comparing two independent sources of data monitoring the same population. ICD-based current statistics can be used to roughly estimate the number of affected patients in a defined area.

Prof. Josep Torrent-Farnell (Spain)

Study for detecting needs and actions of patients to improve the attention and assistance offered to them (A regional experience in Catalonia). European, Regional, State and Local Policy

Keywords: rare diseases, sociosanitary system, model of assistance, expressed needsTo be continued

Summary: This poster presents a study whose objective was to identify the needs and problems that people with rare diseases suffer in order to propose solutions and establish a priority of practicable projects for the Catalan health system (Catalonia is a region of Spain).

Torrent-Farnell-abstract-doc

Dr Oliviana Gelasio (Italy)

Orphan drugs: the challenges of availability and sustainability
New orphan drug development

Keywords: orphan drug, designation, cost monitoring, sustainability

Summary: Prevalence data from the monitoring system established in Veneto Region, Italy, since 2002 allow a rough estimation of the costs related to orphan medical products for rare disorders patients. The impact on the regional and national system is not negligible due to the high costs of this treatments and to the increasing number of patients eligible to therapy. A challenge concerning sustainability of this system in the near future is arising

Gelasio-abstract-doc

New Initiatives in Member States

Dr Domenica Taruscio (Italy)

New italian Actions

Presentation-Taruscio.pdf

Dr Christophe Leroy (France)

The French Emergency Project

Presentation-Leroy.pdf

Erica Daina, Luca Barcella, Roberta Cacialli (Italy)

Five-years experience as a Regional network on rare diseases

Summary: In the last years, the need to promote a network of reference centres for rare diseases has been considered a priority in European Community. Italy has officially adopted the concept of centres of reference for rare diseases with a National Plan in 2001. The Plan includes: accreditation of centres of reference in each region for one or more diseases, establishment of regional coordinating centres, and implementation of a registry of patients to be based at the Istituto Superiore di Sanità in Rome.

Addressing all patient needs, beyond medical care

François Houÿez — 2008-02-15T11:41:10Z

This page contains summaries of the presentation for the category "Addressing all patient needs, beyond medical care" as well as links to the documents.

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François Houÿez (Europe)

Therapeutic Recreation Programmes

Presentation-Houyez-pdf

Pamela Davies (United Kingdom)

Rare Diseases Help Lines

Presentation-Davies.pdf

Shane Lynam (Europe)

Fighting Isolation for very Rare Disease Patients

Presentation-Lynam-pdf

Cécile Meadel (France)

The role of online communities for people living with a rare disease

Presentation-Méadel.pdf

Dr Brigitte Soudrie (France)

Respite Care - so that patients and their carers can have a break from daily routine

Presentation-Soudrie.pdf

Dr Postel-Vinay (France)

Rare Diseases at School

Presentation-Postel-Vinay.pdf

Patient driven innovative projects for rare diseases

François Houÿez — 2008-02-15T11:40:01Z

This page contains summaries of the presentation for the category "Patient driven innovative projects for rare diseasesThis page will be updated soon." as well as links to the documents.

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Anna Allford, Melissa Winter (United-Kingdom)

Family Route Maps - a patient driven project to develop a tool to help access information and services for families with six genetic conditions

Summary: Together with Patient Support Groups and their members representing six rare genetic disorders, the charity Genetic Interest Group explored information and services currently available to families in the UK as the first stage in the development of Family Route Maps designed to signpost information and guide patients, families and carers through the available appropriate healthcare and other services. In addition to providing future practical guidance to people with the six specific disorders, the project will produce a generic Route Map template which can be used for other genetic conditions. Focus Groups and supplemental interviews with patients belonging to Support Groups as well as interviews with health professionals who specialise in these conditions were used to gain their views and experiences. An online patient questionnaire was also available to widen patient participation. Common themes were identified and seven categories emerged: Information; Communication; Education of Healthcare professionals; Diagnosis of rare genetic disorders; Empowering patients and parents/carers; Ethical, Legal and Social issues; and Treatment & Surveillance of patients and families with rare genetic disorders

GIG-abstract-doc

Ms Dorica Dan (Romania)

Collaborative Experience of the Romanian Prader Willi Association

Keywords: Keyword: Rare Diseases, genetic counseling, NGO collaboration

Summary: Developing awareness about the needs of children with Rare Diseases and engaging public in a shared strategy for the development of genetic services, will ensure a collaborative international approach in sharing of expertise and experience

Jonas Bo Hansen (Denmark)

Living with a Rare Disease: a Study of Living Conditions for Persons with Rare Disorders

Keywords: Living conditions, rare disorders, questionnaires

Summary: Living Conditions for people suffering from rare disorders are far from well described ! In a unique Danish study of families suffering from thirteen different rare diseases individuals and families and their living conditions from birth to adulthood are subject to a thorough investigation. The mappings of living conditions is based on answers from totally 891 questionnaires and number of group interviews. All in all it is possible both to detect the living conditions for the special rare disease in question and for a variety of rare diseases - the differences as well as the similarities.

Dr Martin Johnson (United Kingdom)

A Pilot Project for a European Network for Congenital Limb-reduction Deficiency

Keywords: Congenital Limb-reduction Deficiency Electronic Patient Records
On-line Patient Registry

Summary: This paper describes a pilot project developed by the Thalidomide Trust to create a Health Support Service capable of being expanded to support all CLD patients within the EU

Bianca Pizzera Piantanida (Italy)

Breaking the Silence

Summary: In 2006, IPOPI obtained a European Commission grant to provide a Europe-wide Consensus Conference on the Diagnosis and Management of Primary Immunodeficiencies (PIDs) in the EU. This has provided a model for Europe but also for the rest of the world - and indeed for rare diseases other than PIDs.

Maria Rosaria Vavassori (Italy)

IBEA - The Italian Bank for Alternating Hemiplegia, a tool for the promotion of the research on a rare disease

Keywords: Open Bank, Bio-Bank, Clinical Registry, Patients Rights, research, research projects, patient association

Summary: The Italian Bank for Alternating Hemiplegia IBEA is an open repository containing the clinical data and the blood samples of the Italian patients affected by Alternating Hemiplegia (AHC), a very rare neurological disease.
The Bank is directly managed by A.I.S.EA the Italian Patient Association for AHC and safeguards the patients rights to the privacy and the information about the results of the research projects using the Bank

Teresa Sellan (Italy)

Pollicino (Tom-Thumb) Project: rare disorders patients finding their way

Keywords: information, advocacy, web, patients’ Associations

Summary: Pollicino is a communication project aimed at spreading information on rare disorders at different levels. The created web-site collects information especially on practical aspects of daily-living, care opportunities and benefits provided by the Italian Law, paying particular attention on patient advocacy and empowerment

Sara Gamba, Paola Carrara, Liana Garini (Italy)

Rare disease patients: “How can I know other people with my same health problem?”

Summary: The Clinical Research Centre for Rare Diseases Aldo e Cele Daccò is the Coordinating Centre of the Network for Rare Diseases in Lombardy Region, an area of 9 million inhabitants in Northern Italy. Since the beginning of its activities, the Centre has established close collaboration with more than 290 Italian associations. Unfortunately, not all rare diseases have dedicated associations, and we have reasoned that it could be of help, to these orphan patients (and their families), to promote meeting other people with the same health problem.

New treatment and orphan drug development

François Houÿez — 2008-02-15T11:38:22Z

This page contains summaries of the presentation for the category "New treatment and orphan drug development" as well as links to the documents.

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Dr Kerstin Westermark (Europe)

Seven years of orphan drugs policy: what's next ?

Dr Westermark's presentation

Dr Anne-Marie Masquelier (France)

Preparing the European scenario for advanced therapies (gene therapy, cell therapy, future EU regulation)

Dr Masquelier's presentation

Dr François Meyer (France)

Timely and equitable access to orphan medicines across Member States - The european HAS Workshop

Dr Meyer-presentation.pdf

Camelia Al-Khzouz, Paula Grigorescu-Sido (Romania)

Access to the diagnosis and treatment of patients with mucopolysaccharidosis type I in Romania

Summary: Work hypothesis: Mucopolysaccharidosis type I (MPZ type I, Hurler disease) is a monogenic autosomal recessive disease induced by a deficiency of the enzyme α-L-iduronidase, whose main characteristics are craniofacial dysmorphism, severe somatic retardation, organomegaly, progressive mental retardation that can develop into dementia, osteoarthropathy with flexion contracture, and corneal opacities.

Information services

François Houÿez — 2008-02-15T11:36:42Z

This page contains summaries of the presentation for the category "Information services" as well as links to the documents.

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Ségolène Aymé, Ana Rath, Matthieu Levi-Strauss (France)

Orphanet: achievements and new challenges-Research networks

Keywords : Orphanet, orphan drugs, rare diseases, database, clinical trials, specialised clinics, directory of services, encylopaedia, OrphaNews, prevalence, research projects, diagnostic laboratories

Summary: Orphanet is a freely accessible database dedicated to information on rare diseases and orphan drugs with the aim of improving the diagnosis, care, and treatment of patients with rare diseases

Orphanet-abstract.doc

Birgitte Bjerkely, Mads Bjerke (Norway)

Patient participation in the process of producing information material

Summary: Patient participation on different levels in the Norwegian health care system has been a major issue for the government over the last 15 years. The legislation states that the patient’s voice is a key element in developing health care services for the public. Both individuals and patients’ organizations have the opportunity to influence the services they can rightfully claim, using their experiences and opinions.

Emma Gillaspy (France)

The ORPHANET Directory of Services: Activities Related to Rare Diseases Across the United Kingdom

Keywords: Orphanet

Summary: This publication presents the data on rare disease-related activities that has been collected to date from across the United Kingdom. This data has been added to the Orphanet website which is the European portal of rare diseases

Robert Hejdenberg (Sweden)

The Adult programme at Agrenska - a Centre of Competence for Rare Diseases

Summary: Agrenska is a national centre of competence for rare diseases. Our aim is to build not only knowledge but to build competence among our target groups. By being a progressive and creative meeting place between needs and knowledge we contribute to spreading information to our target groups: children, adults and families as well as to professionals. By our method of working in several dimensions: knowledge transfer from experts in a number of fields concerned, exchange of experiences, reflections. The ambition with our programmes is to build competence/capability for life

Prof. Leonor Teixeira (Portugal)

Web-enabled System Design for Managing Clinical Information in Hemophilia Care

Keywords: Haemophilia; Patient Treatment; Patient Registry; Home Therapy; Shared Care; Web Application; Design of Information System.

Summary: Nowadays, Information Systems combined with the Internet, have a significant role in data storage, as in the efficiency and promptness of data transfer and can offer a large contribute in managing and manipulating the information resulting from treatment and attendance of chronic patients, as hemophiliacs. On the other hand, the Internet also created the opportunity of patients to insert data concerning home treatments.
This paper briefly describes the design process of a Web-based information system to help the management of inherited bleeding disorders integrating, diffusing and archiving large sets of information from heterogeneous sources in scope of the hemophilia care at the Hematology Service of Coimbra Hospital Center, in Portugal.

Dr Marion MATHIEU (France)

Innovating action proposed by Tous Chercheurs and the French-speaking Federation of DNA Schools : Practical training in biology and genetics for rare disease associations

Keywords: Tous Chercheurs, Federation of DNA schools, practical training in molecular biology and genetics, rare disease associations, researcher work, research specificities

Summary: In May 2004, the association Tous Chercheurs (initially named DNA school in Marseilles) developed innovative practical training for rare disease associations. These trainings help patients to acquire a good knowledge in biology and genetics, understand time scale and specificities of research, see research progress on their pathology. Between 2004 and 2006, Tous Chercheurs formed 130 patients from 13 different associations, highlighting that such an approach is meeting a crucial need and desire from patient associations. Since 2007, these sessions have been expanded to a national scale (France). Acting as initiator and catalyser of this type of training of patient associations, we look forward to extend this successful story to a Europe-wide level

Prof. Rumen Stefanov (Bulgaria)

A MODEL FOR INTEGRAL RARE DISEASE APPROACH IN EU COUNTRIES - European, Regional, State and Local Policy

Keywords: rare diseases policy, information centre, rare diseases awareness

Summary:The Centre for rare diseases in Bulgaria is presented as a successful model for integral rare disease approach that can be adapted and applied also in other countries

Centres of Expertise and European Reference Networks for Rare Diseases

François Houÿez — 2008-02-15T11:35:16Z

This page contains summaries of the presentation for the category "Centres of Expertise and European Reference Networks for Rare Diseases" as well as links to the documents.

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Dr Edmund Jessop (United Kingdom)

Building a European policy addressing citizens' needs

Dr Jessop's presentation

Yann Le Cam (Europe)

Patients' needs and Expectations concerning access to health services - The EurodisCare3 study

Mr Le Cam's presentation

Birthe Holm (Denmark)

Paving the road for integrated policies - The Rapsody workshops outcomes

Presentation-Birthe Holm.pdf

Dr Celeste Bento (Portugal)

Red blood cells disorders diagnosis and prevention - experience of the Congenital Anemias Unit - Hematology Department in Centro Hospitalar de Coimbra, Portugal

Keywords: red blood cell (RBC) disorders; Prenatal diagnosis; Hemoglobinopathies screening

Summary: The Congenital Anemias Unit, Hematology Department, Centro Hospitalar de Coimbra (CHC), Portugal, is a reference center for red blood cell (RBC) disorders. A multidisciplinary team provides the diagnosis, medical advice, treatment and prevention of the severe forms. Among the severe forms Thalassemia intermedia, Sickle cell disease and PK deficiency are the most frequent. We performed several prenatal diagnosis studies on these pathologies and also on TPI deficiency, sideroblastic anemias and congenital pure red cell aplasia.We implemented a Hemoglobinopathies screening program in the central region of Portugal. Severe forms of RBC disorders are relatively rare and should be investigated and treated in clinical/laboratory units with technical expertise and clinical experience.

Dr Victoria Cret (Romania)

The outcome of haemathological parameters and organomegaly under Imyglucerase treatment in Romanian Type 1 Gaucher patients

Keywords: Type 1 Gaucher disease, Romanian patients, Imyglucerase treatment, outcome

Summary: ERT with Imyglucerase in Romanian type 1 Gaucher patients for a mean of 28 month shows a significant improvement of haematological parameters and organomegaly

Dr Sofia Douzgou (Italy)

Outcome of genetic counselling: the experience of a single centre in Italy

Summary: We re-evaluated 1020 sessions held by the same team of clinical geneticists through a homogeneous procedure, in an attempt to provide some insight into quality assessment of the genetic counselling service.

Dr João Lavinha (Portugal)

Controlling sickle-cell syndromes in Portuguese-speaking Sub-Saharan African populations: role of the Portuguese health system in a trans-continental patient mobility context

Keywords : Sickle-cell, sub-Saharan Africa, prenatal diagnosis, mobility

Prof. Licinio Manco (Portugal)

Genetics of red blood cell enzyme deficiencies in Portugal: mutation profile on PK, G6PD, P5’N and TPI deficiencies

Keywords: red blood cell enzyme deficiencies; PK, G6PD, P5'N and TPI deficiencies; gene mutations

Summary: We performed the molecular characterization of 101 unrelated Portuguese patients with PK, G6PD, P5’N-I and TPI deficiencies. Gene mutations were identified establishing genetic profiles in Portugal and improving the knowledge of red blood cell enzyme deficiencies

Dr Annarosa Soresina (Italy)

Italian Network for Primary Immunodeficiencies (IPINET): an Useful Operative Model for Rare Diseases

Keywords: immunodeficiencies multicenter network; web based system; quality of care

Summary : The IPINET web-based system is an interesting operative model applied for rare diseases research and clinical care. It is a national network of Centers of expertise and non-specialized centers, that produces, shares and updates disease-specific diagnostic and therapeutic protocols, improving the quality of care and the quality of life for patients with Primary Immunodeficiencies

Dr Damien Sternberg (France)

Perspectives, difficulties and achievements of RESOCANAUX, the six-year-old collaborative french network dedicated to diagnosis and research about skeletal muscle channelopathies

Keywords : channelopathy, periodic paralysis, myotonia congenita, paramyotonia, Andersen-Tawil syndrome, electromyography, therapeutic trial, diagnostic test

Summary : The six year activity of RESOCANAUX network has enabled to set up and make a extensive use of high-quality electromyographic and genetic diagnostic tools that will be the basis of the evaluation and stratification of future therapeutic trials.

Prof.Joan-Luis Vives Corrons (Spain)

ENERCA - European Network for Rare and Congenital Anaemias

Summary: The European Commission, through their Directorate for General Health and Consumer Protection, is funding the ENERCA Project. Each of its members has been individually chosen to provide expert experience and advice. The main objective is to improve the communication between specialists and to establish a support network for them. This is done through the
ENERCA WEBSITE: To provide patients and their families with a reliable information source in their language so they are better equipped to understand their condition.

Dr Roberto Zarrabeitia (Spain)

The Spanish Hereditary Haemorrhagic Telangiectasia (HHT) Unit

Summary: Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu Osler Weber (OMIM 187300/600376/601011/610655) is a rare disease with autosomal dominant inheritance causing vascular dysplasia leading to telangiectasias and arteriovenous malformations. Clinical criteria to diagnose HHT are based on the presence of epistaxis, telangiectasias, internal organ involvement and familiar history (Shovlin et al. Am J Med Genet 2000;91:66-7). Several HHT centres have been created worldwide sponsored by the HHT International Foundation.

Zarrabeitia-abstract-doc

Mobility in Europe: Framing healthcare pathways to patients' needs

François Houÿez — 2008-02-15T11:33:05Z

This page contains summaries of the presentation for the category "Mobility in Europe: Framing healthcare pathways to patients’ needs" as well as links to the documents.

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Dr Jill Clayton-Smith (United Kingdom)

The new rare disease challenges of patient migration and EU enlargements

Dr Clayton Smith-presentation.pdf

Alicja Rostocka (Poland)

A patient's testimony

Presentation-Rostocka.pdf

Jaroslaw Waligora (Europe)

Facing patient mobility needs in Europe

Presentation-Waligora.pdf

European Commission Communication on Rare Diseases

François Houÿez — 2008-02-15T11:31:42Z

This page contains summaries of the presentation for the category "European Commission Communication on Rare Diseases" as well as links to the documents.

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Mr Antoni Montserrat-Moliner (Europe)

New European Commission action in the field of Rare Diseases: European strategies and achievements

Presentation-Montserrat.pdf

European Conference on Rare Diseases 2007 in Lisbon

Take Home Messages for Action

This page will be updated soon.

Recent Advances Quality Assessment relevant to Rare Diseases

Isabelle Moulon (United Kingdom)

Assessing the quality of information on medicines for patients

Prof. Thomas Wagner (Germany)

Assessing the quality of Centres of Expertise outcomes

Alastair Kent (United-Kingdom)

Assessing the quality of information on genetic testing

Policy and implementation: European, Regional, State and Local Policy

Dr Ségolène Aymé (Europe)

Overview of Member States public health policies for rare diseases: a 2007 update

Dr Birgit Wetterauer (Germany)

Overview of national research policies and collaboration between Member States

Dr Monica Mazzucato (Italy)

Estimating the impact of Rare Disorders on population health: an Italian experience ,European, Regional, State and Local Policy

Prof. Josep Torrent-Farnell (Spain)

Study for detecting needs and actions of patients to improve the attention and assistance offered to them (A regional experience in Catalonia). European, Regional, State and Local Policy

Dr Oliviana Gelasio (Italy)

Orphan drugs: the challenges of availability and sustainability New orphan drug development

New Initiatives in Member States

Dr Domenica Taruscio (Italy)

New italian Actions

Dr Christophe Leroy (France)

The French Emergency Project

Erica Daina, Luca Barcella, Roberta Cacialli (Italy)

Five-years experience as a Regional network on rare diseases

Addressing all patient needs, beyond medical care

François Houÿez (Europe)

Therapeutic Recreation Programmes

Pamela Davies (United Kingdom)

Rare Diseases Help Lines

Shane Lynam (Europe)

Fighting Isolation for very Rare Disease Patients

Cécile Meadel (France)

The role of online communities for people living with a rare disease

Dr Brigitte Soudrie (France)

Respite Care - so that patients and their carers can have a break from daily routine

Dr Postel-Vinay (France)

Rare Diseases at School

Patient driven innovative projects for rare diseases

Anna Allford, Melissa Winter (United-Kingdom)

Family Route Maps - a patient driven project to develop a tool to help access information and services for families with six genetic conditions

Ms Dorica Dan (Romania)

Collaborative Experience of the Romanian Prader Willi Association

Jonas Bo Hansen (Denmark)

Living with a Rare Disease: a Study of Living Conditions for Persons with Rare Disorders

Dr Martin Johnson (United Kingdom)

A Pilot Project for a European Network for Congenital Limb-reduction Deficiency

Bianca Pizzera Piantanida (Italy)

Breaking the Silence

Maria Rosaria Vavassori (Italy)

IBEA - The Italian Bank for Alternating Hemiplegia, a tool for the promotion of the research on a rare disease

Teresa Sellan (Italy)

Pollicino (Tom-Thumb) Project: rare disorders patients finding their way

Sara Gamba, Paola Carrara, Liana Garini (Italy)

Rare disease patients: “How can I know other people with my same health problem?”

New treatment and orphan drug development

Dr Kerstin Westermark (Europe)

Seven years of orphan drugs policy: what's next ?

Dr Anne-Marie Masquelier (France)

Preparing the European scenario for advanced therapies (gene therapy, cell therapy, future EU regulation)

Dr François Meyer (France)

Timely and equitable access to orphan medicines across Member States - The european HAS Workshop

Camelia Al-Khzouz, Paula Grigorescu-Sido (Romania)

Access to the diagnosis and treatment of patients with mucopolysaccharidosis type I in Romania

Information services

Ségolène Aymé, Ana Rath, Matthieu Levi-Strauss (France)

Orphanet: achievements and new challenges-Research networks

Birgitte Bjerkely, Mads Bjerke (Norway)

Patient participation in the process of producing information material

Emma Gillaspy (France)

The ORPHANET Directory of Services: Activities Related to Rare Diseases Across the United Kingdom

Robert Hejdenberg (Sweden)

The Adult programme at Agrenska - a Centre of Competence for Rare Diseases

Prof. Leonor Teixeira (Portugal)

Web-enabled System Design for Managing Clinical Information in Hemophilia Care

Dr Marion MATHIEU (France)

Innovating action proposed by Tous Chercheurs and the French-speaking Federation of DNA Schools : Practical training in biology and genetics for rare disease associations

Orphan drugs: the challenges of availability and sustainability
New orphan drug development