16 March 2011 print
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Eurobarometer survey reveals awareness and support for rare diseases amongst EU citizens
Published on 28 February, in honour of the fourth International Rare Disease Day, the European Awareness of Rare Diseases Report presents the results of a Eurobarometer survey conducted by TNS Opinion & Social at the request of the Directorate General for Health and Consumers (DG Sanco) and coordinated by Directorate General Communication.

Seeking to gauge the awareness for rare conditions as well as the level of public support for European-level measures, the survey found that “…approximately 2 out of every 3 respondents know that rare diseases affect a limited number of people and require very specific care. Almost 1 in every 5 personally knows of someone suffering from a rare disease”. While there were “significant differences” in awareness between the Member States, some “…95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State”. The survey, in the form of questionnaire, was undertaken in each of the 27 European Union Member States, with approximately 1000 citizens from each country participating, for a total of 26,574 interviews. The release of the report coincides with the formal adoption of the Cross Border Healthcare Directive – legislation of particular relevance to rare disease patients and their families (consult the accompanying news article). In a press release, John Dalli, European Commissioner for Health and Consumer Policy, stated: "I am encouraged to see that EU citizens want more European co-operation on rare diseases. This is important, because the required medical expertise may not be available within national borders. ...I want to stress that the European Commission is engaged in added value action to help citizens access the care they need across the EU".

While the results of the Eurobarometer survey are clearly encouraging, rare disease stakeholders cannot rest on their laurels. The assessment found that detailed knowledge of rare diseases and available resources was scant, despite support for national and European-level action as well as improved research, access to care and awareness-raising. Nevertheless, the key finding of the survey is that “…the European public almost unanimously supports a coordinated EU strategy for improving the treatment of people suffering from rare diseases. It is only within the context of other major national health issues that respondents are slightly less supportive although even here the majority of Europeans are still willing to make rare diseases a priority”. The full Eurobarometer report is available in English language. French and German versions will be available soon. Fact-sheets for each of the Member States are available in the country's EU language and also in English.

(Click on the image to consult the Eurobarometer report)


EUCERD update
Summary report of the first EUCERD meeting now available

The European Union Committee of Experts on Rare Diseases (EUCERD) was established following the publication of the European Commission decision of 30 November 2009 in the Official Journal of the European Union. Consisting of 51 members, including one representative coming from the ministries or government agencies responsible for rare diseases designated by the government of each Member State; four patient organisation representatives; four pharmaceutical industry representatives; nine representatives of ongoing and/or past Community projects in the field of rare diseases financed by the programmes of Community action in the field of health, including three members of the pilot European Reference Networks on rare diseases; six representatives of ongoing and/or past rare diseases projects financed by the Community Framework Programmes for Research and Technological Development; and one representative of the European Centre for Disease Prevention and Control, the EUCERD replaces the European Commission’s Rare Diseases Task Force. The EUCERD held its first meeting on 9-10 December 2010 in Luxembourg. At the meeting, the Internal Rules for the EUCERD were discussed, along with the Road Map for the Implementation of the EU Policy on Rare Diseases 2010-2013, the Past activities of the Rare Diseases Task Force, Tools for the EUCERD, and much more. The public summary report for this meeting is now available online.


EU Policy News

Cross Border Health Care Directive adopted on Rare Disease Day
International Rare Disease Day, held on the last day of February, is proving to be much more than an occasion to raise public awareness for the issues rare disease patients and their families face. It is also turning into an opportunity to move concrete actions significantly forward. Such was the case in France, where the country’s new rare disease plan was officially unveiled (learn more). At the European level, on 28 February the Council of the European Union approved the European Parliament’s amendments on the Cross Border Healthcare Directive. Highly relevant to rare disease patients suffering from scarce and scattered resources for care and diagnostics, the Directive seeks to facilitate access to health care for EU citizens and encourage cooperation between EU Member States in the field of health. The amended text reflects an agreement reached on 15 December between the Belgian Presidency of the Council of the European Union and the European Parliament. Upon publication in the Official Journal of the European Union, expected in April, the Member States will have 30 months to put the provisions of the Directive into national legislation. A Council press release notes that “the new directive provides clarity about the rights of patients who seek healthcare in another member state and supplements the rights that patients already have at EU level through the legislation on the coordination of social security schemes (regulation 883/04). It meets the Council's wish to fully respect the case law of the European Court of Justice on patients' rights in cross-border healthcare while preserving member states' rights to organise their own healthcare systems”.

Article 13 of the Directive specifically addresses the commitment of the Commission on behalf of rare disease patients: The Commission shall support Member States in cooperating in the development of diagnosis and treatment capacity in particular by aiming to:
(a) make health professionals aware of the tools available to them at Union level to assist them in the correct diagnosis of rare diseases, in particular the Orphanet database, and the European reference networks;
(b) make patients, health professionals and those bodies responsible for the funding of healthcare aware of the possibilities offered by Regulation (EC) No 883/2004 for referral of patients with rare diseases to other Member States even for diagnosis and treatments which are not available in the Member State of affiliation.

Consult the Directive on the Application of Patients' Rights in Cross-Border Healthcare
Consult the Council press release

Clinical genetics specialty obtains official recognition in the European Union
A long-term quest for EU-wide recognition of the clinical genetics specialty has finally been achieved. The respective EC Regulation No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications entered into force on 4 March 2011. Published in the Official Journal of the European Union, the amendment states that:

(7) Medical genetics is a specialty that responds to the rapid development of knowledge in the field of genetics and its implication in numerous specialised fields, such as oncology, foetal medicine, paediatrics, chronic diseases. Medical genetics plays a growing role in screening and in the prevention of numerous pathologies. Specialist medical training in medical genetics is not listed in point 5.1.3 of Annex V to Directive 2005/36/EC. However, it has developed into a separate and distinct specialist medical training in more than two fifths of the Member States, which justifies its inclusion into point 5.1.3 of Annex V to Directive 2005/36/EC.

(8) In order to ensure a sufficiently high level of specialist medical training, the minimum period of training required for the medical specialty of medical genetics to be automatically recognised should be four years.

Only a few EU countries have not yet officially recognised clinical genetics as a specialty. Such recognition is critical both for the training of professionals and the organisation of related services.
Consult the EC Regulation No 213/2011

European Commission 2011 health work plan and call for proposals show sustained support for rare disease initiatives
Following its adoption on 22 February, the Work Plan for 2011 implementing the second programme of Community action in the field of health (2008-2013) was published in the Official Journal of the European Union. The 2011 Work Plan places more emphasis and resources on “… a focused cooperation with the Member States”. The Plan’s Smart Growth priority, part of the European Commission strategy for reinvigorating Europe in the next 10 years, specifically includes rare diseases within its scope. Meanwhile, cancer and rare diseases are priorities under the “Diseases” theme – one of five main areas of focus of the 2011 Work Plan. A Call for Proposals for projects, operating grants, conferences and joint actions has been issued by the Executive Agency for Health and Consumers following the publication of the Work Plan. According to the announcement, “…This call for proposals is seeking for very specific projects in seven different areas, where only one project per call will be funded; exception will be made for the rare disease networks”. Grants included in the call include: Support to the implementation of national plans/strategies on rare diseases and related measures to implement Council Recommendation and Commission Communication on rare diseases (joint action); and Support to European rare diseases information networks (project grant). The deadline for submissions for the call for proposals is 27 May 2011.
Consult the 2011 EC Work Plan
Learn more about the Call for Proposals

European Medicines Agency updates website to add new search and share features
The European Medicines Agency has updated its website in order to allow users of the site to search and share contents more readily. According to a press release, new features include:
  • A 'share' button that allows users to bookmark pages and share them via tools such as email, Facebook or Twitter
  • A 'search by type' feature: lets users browse the human European public assessment reports for generic, biosimilar or orphan medicines, medicines authorised under exceptional circumstances or medicines granted conditional approval
  • Improved document searching: allows document library searches by reference number, year of publication or consultation status
  • Enhanced event searching: permits keyword and year-by-year searches within the calendar of events and meetings
  • Searching PIPs by condition: allows a search of all opinions and decisions on paediatric investigation plans (PIPs) by a given condition or disease
  • These updates build upon the EMA's drive towards more openness and transparency.
    Learn more


    National & International Policy Developments
    Second French rare disease plan streamlines actions and activities
    The Second French National Plan for Rare Diseases was officially unveiled on 28 February. Capitalising on the achievements and shortcomings discerned following a thorough analysis of France’s legendary first National Plan for Rare Diseases – which, as the first of its kind in the world, quickly became an international model – the second plan has been streamlined to perform as efficiently as possible. The ten strategic priorities of the first plan, which ran from 2005-2008, have been whittled down to three central axes: Improving the quality of patient care; Developing rare disease research; and Expanding European and International cooperation.

    "Le bon Dieu est dans le détail…"
    What allows a plan to leap efficiently into action is detail - and the Second French National Plan for Rare Diseases leaves little to the imagination. Within the three overarching priorities are lodged specific measures and actions, each designed to move forward knowledge, research and care for rare disease patients in France. The first priority: Improving the quality of patient care thus includes eight measures, each of which is further broken down into a series of concrete actions. The main measures of the first action include Improving diagnostics and patient management; Optimising financing and evaluation modalities for the rare disease centres of expertise; Increasing the production of national protocols for diagnostics and care; Assuring the quality of treatment management adapted to the needs of the individual rare disease patient; Fostering the relationship between different care givers and health care professionals; Improving health care professional practice; Improving information access and diffusion; and supporting the development and implementation of Orphanet tools, resources and nomenclature. A new – and key – component of the first priority is the creation of a repository of national rare disease patient data which will gather all available clinical data into one resource.

    The second axe, Developing rare disease research, has four specific measures: Creating a national research structure in interface with stakeholders from the public and private sectors; Promoting tools that increase the understanding of rare diseases and assuring that the national research programme has a fixed sum dedicated to rare disease research; Promoting the development of clinical studies; and Encouraging translational research.

    The third axe Expanding European and international cooperation includes the measures of Promoting the international exchange of expertise via the European networks of reference; Facilitating the ability to conduct multinational trials and studies, as well as access to diagnostics available at the European level and the quality control of these tests; and Improving access to diagnostics, care, treatment, research and information by building European and international cooperation.

    All of these measures are to be accomplished with a budget of around €180 million for the period 2011-2014. This sum represents an increase of €86.4 million from the first plan, in order to finance several new actions. French Health Minister Xavier Bertrand confirmed the government's commitment to the second French national rare disease plan during a visit to the Rare Disease Platform in Paris on 3 March.

    It has been remarked that the French know a thing or two about “savoir vivre” and the Gallic government’s commitment to the Second French Plan reflects an understanding that a country’s overall quality of life depends upon striving to meet the needs of all its citizens.
    Consult the Second French National Plan for Rare Diseases (available in French)


    EU Project Follow-up
    Progress in quality assurance and technical developments in genetic testing ... a meeting of the minds
    Two important EC-funded projects with complementary approaches, EuroGentest2 and Techgene, organised a joint workshop to discuss with the Community their current achievements and projects for the coming years. The workshop, held in Leuven, attracted over 150 participants. EuroGentest2 is the continuation of a Network of Excellence set up more than five years ago to harmonise and improve the quality of genetic services in Europe. Techgene focuses on how to incorporate Next Generation Sequencing (NGS) technology into diagnostic services. The meeting resulted in a lively confrontation between clinical geneticists well aware of the difficulties to offer quality services, and researchers at the edge of innovation willing to rush to implement NGS.

    On the forefront of quality management of European laboratories, EuroGentest contributes to improving the quality of genetic services through training workshops for laboratory geneticists, issuing guidelines, and the publication of information on quality management of laboratories on the Orphanet website. To promote the laboratories with established quality standards, these laboratories are now listed first in Orphanet queries. In coming months, training will be provided also through webinars and webcasts. Despite progress, several problems remain: there is an urgent need for a network of control materials sources; criteria for determining poor performers which do not deliver an acceptable service; and the need for a harmonised framework for the accreditation of laboratories, as the accreditation process is the responsibility of the Member States. The participants agreed that testing is a process which starts with pre-counselling prior to the prescription of a test and extends through the post-counselling after the results and their interpretation have been released. Quality management should incorporate all aspects of a genetic test, not simply the technical analysis itself. The In Vitro Diagnostics (IVD) Directive, which is currently being revised, was discussed, as it may heavily impact the provision of tests for rare diseases. The EuroGentest network has closely followed the evolution of this Directive and provided highly relevant comments to the European Commission; while these comments were not welcomed by Industry in general, they were supported by many learned societies in Europe.

    The issue of databases was addressed as data produced by the testing activity have a high value to improve knowledge on the significance of genetic variants, a knowledge which is required to interpret the results and to guide patients and health care professionals. To share data, a common nomenclature is needed. Such a nomenclature to adequately report genetic variants now exists: the Locus-Reference-Genomic terminology. However this terminology is not yet used widely enough. All variants should be reported in LSDB, the Locus-Specific Data Base. This database released a new service at the occasion of this meeting: the project Café RouGE. This new web service is a single depot spot for data from laboratories, which will be available freely for re-use by the Community, with an unrestricted access for some data and permission restricted access for others. If there is a terminology to describe genetic variants, there is still no universal terminology to store clinical data. Progress in the revision of the International Classification of Diseases was presented. EUGT2 plans to contribute to the establishment of a unified vocabulary for clinical data. The conclusion of the first day was that we are still far from offering quality services to all patients in Europe and that data are still lacking to correctly interpret many test results generated by new technologies.

    The second day was dedicated to looking at the state-of-the-art of Whole Genome Sequencing (WGS) and of Whole Exome Sequencing (WES), which is difficult as there is an avalanche of results. Currently, some 150 whole genomes are sequenced daily. Each of them reveals 250 to 300 ‘loss of function’ variants, of which 100 are already implicated in inherited disorders. No one knows how to handle this tsunami of information.

    The capacity of WES to reveal the genetic mechanism of intellectual deficit syndromes with no known cause was demonstrated. Successful analysis requires sequencing not only the patient but also both of the patient’s parents, which increases significantly the cost of the procedure. The candidate variants then have to be validated by classical methods. This approach requires well defined phenotypes. The WGS approach is already offered as a service in the USA by commercial companies. But in fact the regions which are sequenced are those containing genes known to be associated with relevant diseases. The service includes pre– and post-counselling and costs around $10,000. A lively discussion took place on the respective approaches and their pros and cons. There was a clear split in the prevalent opinion between clinicians compared to researchers on whether WES and WGS are ready to be used in clinical care. An ethicist reminded the audience of the principles of technology transfer, according to the theory of innovation developed in the 1930s. Techgene, together with EuroGentest, will deliver guidelines on both technical and ethical issues, a very welcome initiative to avoid what could be called ‘collateral damage’. This could be generated by the identification of genetic variants, which are impossible to interpret today or which reveal bad news, not anticipated in the initial request for sequencing.


    Orphanet News
    Boa notícia - Orphanet now available in Portuguese language!

    Orphanet, the pan-European information portal for rare diseases and orphan drugs is pleased to announce that its site is now available in Portuguese, bringing the total number of official Orphanet languages up to six. Following almost two years of hard work translating and validating the contents, the Portuguese-language site was ready for unveiling in time for the Fourth International Rare Disease Day. Portuguese rare disease professionals and patient organisations are invited to register or update their activities. Orphanet also has country sites for several countries – including Portugal – that feature news of local rare disease political, medical and scientific activities, as well as events and publications.
    Learn more about the country sites
    Visit Orphanet Portugal


    New Syndromes

    Hyperuricemia, pulmonary hypertension, renal failure and alkalosis: mutations in mitochondrial seryl-tRNA synthetase gene
    An uncharacterised multisystemic mitochondrial cytopathy was diagnosed in two infants from consanguineous Palestinian kindred living in a single village. The most significant clinical findings were tubulopathy (hyperuricemia, metabolic alkalosis), pulmonary hypertension, and progressive renal failure in infancy (HUPRA syndrome). The authors identified a pathogenic mutation in the SARS2 gene, encoding the mitochondrial seryl-tRNA synthetase. The same homozygous mutation was later identified in a third infant with HUPRA syndrome.
    Read the PubMed abstract

    Am J Hum Genet ; 193-200 ; 11 February 2011
    Two studies report megaloblastic anaemia, pancytopenia, cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency
    Two independent studies describe a new syndrome linked to DHFR gene mutations in children from consanguineous families. The condition is characterised by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency.
    Read the first PubMed abstract
    Read the second PubMed abstract

    Am J Hum Genet ; 216-225; 226-231 ; 11 February 2011

    New Genes

    Retinitis Pigmentosa: a mutation in DHDDS, encoding dehydrodolichyl diphosphate dynthase, is associated
    Read the PubMed abstracts
    To read more about "Retinitis pigmentosa"

    Am J Hum Genet ; 201-206; 207-215 ; 11 February 2011
    Cleft palate: the FAF1 gene is disrupted
    Read the PubMed abstract
    To read more about "Cleft palate"

    Am J Hum Genet ; 150-161 ; 11 February 2011
    Chronic lymphocytic leukaemia: a novel susceptibility locus harbouring the HLA-DQA1 and HLA-DRB5 genes identified
    Read the PubMed abstract
    To read more about "Chronic B-cell lymphocytic leukemia"

    Blood ; 1911-1916 ; 10 February 2011
    Heterotaxy: rare copy number variations identify unique genes in left-right patterning
    Read the PubMed abstract
    To read more about "Heterotaxia"

    PNAS ; 2915-2920 ; 15 February 2011
    Congenital myasthenic syndromes: hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
    Read the PubMed abstract
    To read more about "Congenital myasthenic syndromes"

    Am J Hum Genet ; 162-172 ; 11 February 2011
    Autosomal-recessive hearing impairment DFNB42: loss-of-function mutations of ILDR1at cause
    Read the PubMed abstract
    To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

    Am J Hum Genet ; 127-137 ; 11 February 2011

    Research in Action

    OMiR: Identification of associations between OMIM diseases and microRNAs
    A large number of loci for genetic diseases have been mapped on the human genome and a group of hereditary diseases among them have thus far proven unsuccessful to clone. It is conceivable that such "unclonable" diseases are not linked to abnormalities of protein coding genes (PCGs), but of non-coding RNAs (ncRNAs). The authors have developed a novel approach termed OMiR (OMIM and miRNAs), to test whether microRNAs (miRNAs) exhibit any associations with mapped genetic diseases not yet associated with a PCG. They found that "orphan" genetic disease loci were proximal to miRNA loci more frequently than to loci for which the responsible protein coding gene is known, thus suggesting that miRNAs might be the elusive culprits. These findings indicate that inclusion of miRNAs among the candidate genes to be considered could assist geneticists in their hunt for disease genes, particularly in the case of rare diseases.
    Read the PubMed abstract

    Genomics ; 71-76 ; February 2011
    Fundamental Research
    Sarcoglycanopathy: SMAD signalling drives heart and muscle dysfunction in a Drosophila model
    Read the PubMed abstract
    To read more about "Qualitative or quantitative defects of sarcoglycan"

    Hum Mol Genet ; 894-904 ; 1 March 2011
    Sézary syndrome: MicroRNA-21 expression in CD4+ T cells is regulated by STAT3 and is pathologically involved
    Read the PubMed abstract
    To read more about "Sezary's syndrome"

    J Invest Dermatol ; 762-768 ; March 2011
    Sickle cell disease and β-thalassemia: microRNA-15a and -16-1 act via MYB to elevate foetal hemoglobin expression
    Read the PubMed abstract
    To read more about "Sickle cell anemia"
    To read more about "Beta-thalassemia"

    PNAS ; 1519-1524 ; 25 January 2011
    Gene Therapy
    Retinitis pigmentosa: long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse
    Read the PubMed abstract
    To read more about "Retinitis pigmentosa"

    Mol Ther ; 234-242 ; February 2011
    Acute intermittent porphyria: enzymatic correction by rAAV-mediated gene therapy protects against motor neuropathy in mice
    Read the PubMed abstract
    To read more about "Porphyria"

    Mol Ther ; 243-250 ; February 2011
    Therapeutic Approaches
    Adult T-cell leukaemia: therapeutic agent CP-690,550 inhibits cytokine-mediated Jak3 activation and proliferation of T cells
    Read the PubMed abstract
    To read more about "Adult T-cell leukemia/lymphoma"

    Blood ; 1938-1946 ; 10 February 2011
    Thrombotic thrombocytopenic purpura: N-acetylcysteine reduces the size and activity of von Willebrand factor in human plasma
    Read the PubMed abstract
    To read more about "Thrombotic thrombocytopenic purpura"

    J Clin Invest ; 593-603 ; 1 February 2011
    Huntington disease: electroconvulsive shock ameliorates disease processes and extends survival in mice
    Read the PubMed abstract
    To read more about "Huntington disease"

    Hum Mol Genet ; 659-669 ; 15 February 2011
    Diagnostic Approaches

    Systemic sclerosis: preliminary criteria for the very early diagnosis from EULAR Scleroderma Trials and Research Group
    Read the PubMed abstract
    To read more about "Systemic sclerosis"

    Ann Rheum Dis ; 476-481 ; March 2011

    Patient Management and Therapy

    β-thalassaemia major: HLA-matched sibling bone marrow transplantation most successful before age seven
    The authors describe outcomes after human leukocyte antigen-matched sibling bone marrow transplantation (BMT) for 179 patients with β-thalassaemia major. The median age at transplantation was 7 years and the median follow-up was 6 years. Seventeen patients had graft failure, which was fatal in 11. Six of 9 patients with graft failure are alive after a second transplantation. The day 100 probability of acute graft-versus-host disease and 5-year probability of chronic graft-versus-host disease was 38% and 13%, respectively. The 5-year probabilities of overall- and disease-free survival were 91% and 88%, respectively, for patients with Pesaro risk class II, and 64% and 62%, respectively, for Pesaro risk class III. Mortality risks were higher in patients 7 years of age and older and those with hepatomegaly before BMT. Proceeding to BMT in children younger than 7 years before development of end-organ damage, particularly in the liver, should improve results after BMT for β-thalassaemia major.
    Read the PubMed abstract

    To read more about "Beta-thalassemia major"

    Blood ; 1745-1750 ; 3 February 2011
    Osteogenesis imperfecta: alendronate improves spine areal bone mineral density but not fracture outcome in children
    One hundred thirty-nine children (aged 4-19 yr) with type I, III, or IV osteogenesis imperfecta (OI) were randomised to either placebo or daily oral alendronate (ALN) for two years. ALN doses were 5 mg/d in children less than 40 kg and 10 mg/d for those 40 kg and greater. ALN increased spine areal bone mineral density (BMD) by 51% vs. a 12% increase with placebo. Urinary N-telopeptide of collagen type I decreased by 62% in the ALN-treated group, compared with 32% with placebo. Long-bone fracture incidence, average midline vertebral height, iliac cortical width, bone pain, and physical activity were similar between groups. Oral ALN significantly decreased bone turnover and increased spine areal BMD but was not associated with improved fracture outcomes.
    Read the PubMed abstract

    To read more about "Osteogenesis imperfecta"

    J Clin Endocrinol Metab ; 355-364 ; February 2011
    Systemic juvenile idiopathic arthritis: anakinra shows promise as first-line therapy
    To examine the safety and efficacy of the interleukin-1 (IL-1) receptor antagonist anakinra as first-line therapy for systemic juvenile idiopathic arthritis (JIA), among 46 patients meeting inclusion criteria, anakinra monotherapy was used in 10 patients (22%), while 67% received corticosteroids and 33% received additional DMARDs. Outcomes were evaluated at a median followup interval of 14.5 months. Anakinra as first-line therapy for systemic JIA was associated with rapid resolution of systemic symptoms and prevention of refractory arthritis in almost 90% of patients during the interval examined. These results justify further study of IL-1 inhibition as first-line, rather than rescue, therapy in systemic JIA.
    Read the PubMed abstract

    To read more about "Idiopathic juvenile-onset systemic arthritis"

    Arthritis Rheum ; 545-555 ; February 2011
    Large B-cell lymphoma: surgical resection followed by chemotherapy versus chemotherapy alone
    The aim of this retrospective cohort study was to analyze the impact of surgery on the outcomes and qualities of life (QOL) in patients with intestinal diffuse large B-cell lymphoma (DLBCL). The authors assessed 345 patients with either localised or disseminated intestinal DLBCL and compared them according to treatment: surgical resection followed by chemotherapy versus chemotherapy alone. In patients with localised disease (Lugano stage I/II), surgery plus chemotherapy yielded a lower relapse rate (15.3%) than did chemotherapy alone (36.8%). The 3-year overall survival rate was 91% in the surgery plus chemotherapy group and 62% in the chemotherapy-alone group. The predominant pattern in the chemotherapy group was local relapse (27.6%). When rituximab was used with cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP), there was no improvement of the outcomes in patients treated with primary surgical resection. The QOL of patients who underwent surgery and chemotherapy was lower than chemotherapy alone, but its difference was acceptable.
    Read the PubMed abstract

    To read more about "Diffuse large B-cell lymphoma"

    Blood ; 1958-1965 ; 10 February 2011

    Orphan Drugs
    FDA approves first product to prevent bleeding in people with congenital factor XIII deficiency
    The U.S. Food and Drug Administration (FDA) has approved Corifact, the first product intended to prevent bleeding in people with the rare genetic defect congenital Factor XIII deficiency. Corifact received orphan-drug designation and was approved for marketing under the FDA's accelerated approval regulations that require an on-going study to demonstrate that patients actually receive the clinical benefit predicted by the data obtained so far. Corifact is manufactured by CSL Behring of Marburg, Germany.

    Six positive opinions for orphan designation at the March COMP meeting
    The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted six positive opinions issued at the March 2011 COMP meeting for the treatment of:

    - epidermolysis bullosa
    - Stargardt disease
    - pouchitis
    - pancreatic cancer
    - hepatocellular carcinoma
    - 5q spinal muscular atrophy

    Consult the European Register of Designated Orphan Medicinal Products
    Consult the Orphanet list of orphan drugs authorised for marketing in Europe



    Call for research proposals in the field of genetic leukodystrophies and myelin repair
    The ELA Research Foundation invites the international scientific community to submit research applications in the field of genetic leukodystrophies and myelin repair. The Scientific Committee of the ELA Foundation will favour collaborative and interdisciplinary projects. Pilot studies are also encouraged. Key research topics include well characterised leukodystrophies; poorly characterised leukodystrophies; leukodystrophies of unknown cause; and myelin repair. Application submission deadline: 29 April 29 2011.
    Learn more

    Niemann-Pick disease research fellowships available
    The National Niemann-Pick Disease Foundation (NNPDF) invites applications for post-doctoral research fellowships examining the biology of Niemann-Pick Type C (NPC) disease, a lethal neurodegenerative disease for which there are no effective therapies. M.D., Ph.D., and D.V.M. postdoctoral fellows are eligible to apply for funding to improve the understanding of the biology and pathogenesis of NPC disease. Preference will be given to research projects developing new therapies for NPC, and identifying biomarkers of disease activity for diagnosis and clinical trials. The fellowships provide support of $50,000 per annum for two years and may be renewable based on performance. Applicants must be currently associated with a recognised laboratory. Deadline for application submission: 1 May 2011
    Learn more

    EU Executive Agency for Health and Consumers Call for Proposals
    Following the adoption of the Work Plan for 2011 implementing the second programme of Community action in the field of health (2008-2013), a Call for Proposals for projects, operating grants, conferences and joint actions has been issued by the Executive Agency for Health and Consumers. Grants included in the call include: Support to the implementation of national plans/strategies on rare diseases and related measures to implement Council Recommendation and Commission Communication on rare diseases (joint action); and Support to European rare diseases information networks (project grant), amongst others. The deadline for submissions for the call for proposals is 27 May 2011.
    Learn more about the Call for Proposals


    Courses & Educational Initiatives

    Rare Solid Cancers: An Introduction
    Organised by the European School of Oncology in collaboration with the Rare Care project. This course, being held in Stresa, Italy from 31 March – 1 April 2011, will focus on all the main rare solid cancers of the adult. Rare cancers present particular challenges, such as organisation of care and methodology of clinical studies. Oncologists, epidemiologists and health administrators will particularly find this course useful.
    For further details

    ESH Enerca Training Course on Haemoglobin disorders: Laboratory diagnosis and Clinical Management
    In association with the Thalassaemia International Federation, this course, being held from 1-2 April 2011 in Brussels, Belgium, will address: Thalassaemias - Clinical and Molecular Aspects; Laboratory Diagnosis in Thalassaemia Syndromes; Sickle Cell Disease: Clinical Aspects; Abnormal Haemoglobins; Epidemiology of Haemoglobin Disorders; and more.
    For further details

    32nd Annual Course of Pediatric Dermatology
    The Course of Pediatric Dermatology, founded 30 years ago, lasts four days, this year from 26-29 April 2011 and is being held in Arcachon, France. It is designed for dermatologists and paediatricians in training (internal and senior registrars) or as a continuing medical education instrument, for all who want access to advanced training in the specialty. The themes have a rotation which varies according to topicality and importance of the subject, but a 4-year cycle provides a fairly comprehensive overview of dermatology of the child. The course will offer two days of content in English language and two days in French. As every year, a number of rare genetic diseases of the skin will be covered.
    For further details

    Upcoming European School of Genetic Medicine courses
    The European School of Genetic Medicine offers advanced training in the fields of genetics and genomics in medicine. Upcoming courses include the Course in Cognitive Disorders (11‐13 April 2011); the Course in Next Generation Sequencing for Rare and Common Genetic Disorders (14‐17 April 2011); and the 24th Course in Medical Genetics (18‐22 May 2011). The European Society of Human Genetics (ESHG) is offering a certain number of fellowships covering the registration fee for these courses.
    For further details

    The Science of Small Clinical Trials Course – online participation possible
    Created jointly by the FDA's Office of Orphan Products Development and NIH's Office of Rare Diseases Research, the Science of Small Clinical Trials Course addresses issues arising in the design and analysis of clinical trials based on small study populations. While small clinical trials are a necessity in the context of rare diseases, being able to conduct small trials with scientific rigor is of increasing importance in other contexts, particularly as genomic science begins to provide opportunities for individualised pharmacology. Eight 90-minute lectures will be held between 19 April and 12 May 2011. On-site or on-line attendance is possible.
    For further details

    Update in Neuromuscular Disorders
    Being held from 13-16 June 2011, at the Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, in London, this established paediatric and adult course is now in its fourth year. Topics to include: What’s new in Duchenne muscular dystrophy?; Cognitive and behavioural profile of Duchenne MD; Psychological effects of participation in clinical trials; Cardiac involvement in neuromuscular disease; Congenital muscular dystrophies; Mitochondrial disorders – classification and genetic basis; and much more.
    For further details

    Master of Science in Haemoglobinopathy
    A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
    For further details

    Orphan Academy 2011 programme
    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details


    What's on Where?

    Optimal Role of Patient Organisations in Drug Development
    Date: 24 March 2011
    Venue: Amsterdam, Netherlands

    A conference dedicated to how partnership with patient organisations can contribute to more efficient drug development. For industry, scientists, patient organisations, and policy makers.
    For further details

    3rd European Phenylketonuria Group Symposium - Advances and challenges in PKU
    Date: 24-26 March 2011
    Venue: Lisbon, Portugal

    The aim of this meeting is to review the most important outcomes of research in the field and to provide a forum for participants to discuss solutions that can optimise patient management in clinical practice.
    For further details

    CliniGene Network of Excellence: Gene Transfer and Therapy: State of the Art and eCHiPS - European Conference on Human iPS
    Date: 7-9 April 2011
    Venue: Paris, France

    In the first part of this event the latest clinical data will be presented and the CliniGene platform leaders will report on the outcome and integration of various technologies. The eCHiPS - European Conference on Human iPS, organised jointly with several EU-networks, aims to offer an open forum gathering specialists with expertise in various aspects, such as reprogramming techniques, iPS markers, quality controls, industrial production, GMP constraints, clinical perspectives, predictive toxicology and high throughput screening, standardisation and regulation among others. The goal of this pivotal meeting is to promote a broader European collective action on iPS cells.
    For further details

    World Orphan Drug Congress USA 2011
    Date: 13-15 April 2011
    Venue: Washington DC, USA

    This commercial event will bring together industry leaders, government, and research organisations to address the opportunities and challenges for the commercialisation of drugs to treat rare diseases.

    For further details

    Awakening Australia to Rare Diseases: Global perspectives on establishing a coordinated approach to a national plan
    Date: 18-20 April 2011
    Venue: Freemantle, Western Australia

    This symposium will bring international experts on rare diseases together with stakeholders nationally to work towards a rare disease strategy for Australia.
    For further details

    II All-Russian Conference for Rare Diseases and Rarely Used Medical Technologies
    Date: 21-22 April 2011
    Venue: Saint Petersburg, Russia

    The first conference was attended by over 450 people from 23 countries and 20 districts of the Russian Federation. Of interest to scientific experts in rare diseases, clinicians, social workers, representatives of non-profit and charitable organisations, and policy-makers, this year’s event includes plenary sessions on policy in the field of rare diseases; modern approaches to diagnostics and treatment; and much more. Deadline for abstract submission: 17 March 2011
    For further details

    Fourth International Congress of Myology
    Date: 9-13 May 2011
    Venue: Lille, France

    Close to 1,000 participants coming from the five continents are expected to attend this conference to obtain an update on the scientific and medical advances made in muscle science and its related disorders. Two days will focus on fundamental science and two days on clinical research. The event will provide an opportunity to learn more about the numerous therapeutic avenues being explored and by the emerging clinical trials.
    For further details

    The Third Birt-Hogg-Dubé Symposium
    Date: 11-12 May 2011
    Venue: Maastricht, Netherlands

    The aims of the Third Birt-Hogg-Dubé (BHD) Symposium are to communicate advances in the understanding, management and treatment of BHD syndrome and, for the first time, of hereditary leiomyomatosis and renal cell cancer (HLRCC), as well as to promote collaboration among researchers in these and related fields. Keynote talks, abstract presentations and a poster exhibition will cover basic and clinical research in BHD and HLRCC. Prizes for exceptional posters will be awarded. Additionally, there will be patient- and family-centred sessions.
    For further details

    12th International Conference on Thalassaemia and the Haemoglobinopathies
    Date: 11-14 May 2011
    Venue: Antalya, Turkey

    The main topics will include epidemiology and prevention; heart and vascular abnormalities; reproduction and pregnancy; quality care for quality of life; other haemoglobin disorders; haemopoietic stem cell transplantation; gene regulation and therapy; and much more.
    For further details

    Ninth European Paediatric Neurology Society Congress
    Date: 11-14 May 2011
    Venue: Cavtat (Dubrovnik), Croatia

    The programme includes basic neuroscience and neurobiology, new treatment approaches in muscular disorders, neuro-othology and neuro-opthalmology, advanced critical care and ethics in paediatric neurology as well as practical clinical knowledge in the skills of electroencephalography and electromyography via comprehensive workshops.
    For further details

    European Perspectives in Personalised Medicine
    Date: 12-13 May 2011
    Venue: Brussels, Belgium

    This conference will bring together key stakeholders of the research community and the healthcare sector to identify the developments needed in order to contribute to the research for Personalised Medicine at European and national level, in the frame of the Innovation Union and beyond. Organised by the services of the European Commission (DG Research and Innovation) in consultation with major stakeholders, the objective of the conference is to contribute to the building of a vision for 2020 and to clarify the role of EU-funded research to support progress in the area of personalised medicine. Sessions include: the basics of personalised medicine; biomarkers, clinical trials, diagnostics and treatments; and uptake in healthcare.
    For further details

    First International Symposium on Childhood, Adolescent and Young Adult Hodgkin Lymphoma
    Date: 12-14 May 2011
    Venue: Arlington, Virginia USA

    This event seeks to: provide a platform for global collaboration; establish networks of multidisciplinary caregivers; identify leaders for specific projects; promulgate tools for communication and collaboration; and develop standards of care for children with HL.
    For further details

    Fifth Meeting on the Molecular Mechanisms of Neurodegeneration
    Date: 13-15 May 2011
    Venue: Milan, Italy

    This International Congress is the Fifth Meeting of the series dedicated to the Molecular Mechanisms of Neurodegeneration in hereditary diseases. As in the previous edition, the Meeting is aimed at stimulating new and productive interactions among basic and clinical research groups involved in this exciting area of human genetics.
    For further details

    3rd Symposium on Disorders of Sex Development
    Date: 20-22 May 2011
    Venue: Lubeck, Germany

    Disorders of Sexual Development (DSD) constitute a group of rare, mostly heritable disorders affecting the genito-urinary tract and in most instances also the endocrine-reproductive system. This symposium “From Gene to Gender” looks at what has been learnt and what is still needed. Sessions will focus on genetics, hormones and actions, phenotype modulation, clinical aspects and more.
    For further details

    Ninth Hereditary Hemorrhagic Telangiectasia International Scientific Conference
    Date: 20-24 May 2011
    Venue: Antalya, Turkey

    This biennial conference, held since 1996, is attended by a multi-disciplinary, international group of clinicians, researchers and patient association representatives with the goal of advancing research and discoveries through multi-disciplinary "cross-fertilization" and international collaboration. An attendance of approximately 300 is expected.
    For further details

    VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2011)
    Date: 21-23 May 2011
    Venue: Tokyo, Japan

    A global meeting on international cooperation and public health policies focusing on research, diagnosis, development of and access to treatment and care for rare diseases. The VII ICORD Conference will offer a platform for the exchange of perspectives for medical and healthcare professionals, patients and patients’ groups, basic and clinical researchers, policy-makers, government officers and pharmaceutical, biotechnology and medical device industries. Deadline for abstract submission: 31 March 2011 .
    For further details

    European Human Genetics Conference 2011
    Date: 28-31 May 2011
    Venue: Amsterdam, Netherlands

    Featuring sessions on mitochondrial diseases and neonatal screening, iPS cells, ciliopathy and brain, neurodegenerative diseases, genetic therapy, prenatal diagnosis, dysmorphology workshop, educational sessions on Marfan, Noonan, and Ehlers-Danlos syndromes, amongst others, and much more.
    For further details

    The World Orphan Drug Summit
    Date: 31 May – 1 June 2011
    Venue: Frankfurt, Germany

    The World Orphan Drug Summit will tackle challenges that are currently slowing the development, market authorisation and patient access to orphan drug treatments. The event will focus on delivering in-depth discussion and practical solutions to provide participants with the strategies to grow their orphan drug business.
    For further details

    9th International Prenatal Screening Group Congress
    Date: 19-21 June 2011
    Venue: Barcelona, Spain

    This congress brings together laboratory providers, researchers, maternal foetal medicine specialists, geneticists and others interested in the provision of prenatal screening. The meeting will expand on the past meetings of the International Down Syndrome Screening Group through the inclusion of screening for disorders with a Mendelian pattern of inheritance and other single gene disorders, identification through maternal serum biochemical markers, foetal nucleic acids in maternal circulation and ultrasound, early detection of pregnancy complications and other conditions. Deadline for abstract submissions: 31 March 2011.
    For further details

    Eighth European Cytogenetics Conference
    Date: 2-5 July 2011
    Venue: Porto, Portugal

    This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other.
    For further details

    VI Cornelia de Lange Syndrome World Conference
    Date: 27-31 July 2011
    Venue: Copenhagen, Denmark

    Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
    For further details

    Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
    Date: 30 August – 02 September 2011
    Venue: Geneva, Switzerland

    The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
    For further details

    European Conference on Post Polio Syndrome
    Date: 31 August – 02 September 2011
    Venue: Copenhagen, Denmark

    This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
    For further details

    3rd International Symposium on Pheochromocytoma and Paraganglioma
    Date: 14-17 September 2011
    Venue: Paris, France

    An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside. Deadline for abstract submission: 28 May 2011
    For further details

    5th International Conference on Birth Defects and Disabilities in the Developing World
    Date: 24-27 September 2011
    Venue: Lodz, Poland

    The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details


    Press & Publications
    New book from Spanish rare disease research network CIBERER analyses rare disease media coverage and offers communication tools

    Social researchers from the Universidad de Almería and Valencia’s CEU-Cardenal Herrera University offer a quantitative and discursive analysis of the treatment of Rare Diseases in the Spanish press over a one-year period. The results are presented in a new book entitled Communication, Strategies and Challenges for Rare Diseases: Medical Research as a Referent, published by the Centre for Biomedical Network Research on Rare Diseases (CIBERER). The project was developed in the hope that the text will serve as a reference in the information coverage of these types of pathologies. The book, freely downloadable in English and Spanish languages, is intended for students – future researchers, clinicians and journalists- as well as for active professionals in these fields, in addition to patients and patient associations. In the opening paragraphs, Francesc Palau, Scientific Director of the CIBERER, points out that ”...Proper media treatment of the situation undergone by people affected by rare diseases and of the research being carried out to find diagnoses and therapies may doubtlessly turn out to the benefit of patients and their families”.
    Consult the book (English)
    Consult the book (Spanish)

    Focus on mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies
    An in-depth look at the mitochondrial optic neuropathies has been published in the March issue of Progress in Retinal and Eye Research. The authors describe the disease mechanisms, clinical presentation, epidemiology and therapeutic strategies for conditions such as Leber hereditary optic neuropathy and autosomal-dominant optic atrophy.
    Read the PubMed abstract

    Meniere’s Disease: Evidence and Outcomes
    Meniere disease is the most poorly understood and controversial of the inner ear disorders and yet no critical review of the literature currently exists. Previously accepted models of pathophysiology have been discredited, yet no new mechanisms have been established. Evaluation of treatments has been complicated by the high placebo response of the disorder together with the disease’s capricious clinical course. As a result of all these issues, the literature pertaining to Meniere disease is clouded by anecdotal reports, invalid studies, and science of dubious quality. As a result of these factors, practicing otolaryngologists are understandably confused about how they should best evaluate and treat these patients. This new book clarifies the current state of understanding of the disorder and develops an evidence–based treatment strategy, using a number of challenging case presentations to illuminate the text. Written by an expert researcher and clinician in the field and in collaboration with a number of world-renowned contributing authors.
    Title: Meniere’s Disease: Evidence and Outcomes
    Author: Ruckenstein, M.
    Publisher: Plural Publishing Inc., April 2010
    ISBN13: 978-1-59756-300-0

    Newborn Screening Systems: The Complete Perspective
    This title, by drawing on the knowledge of twenty clinical and research experts from varying fields, details the collection of screening programmes routinely delivered to newborns. Beginning chapters outline preliminary information applicable to all screening systems, for instance, the history and principles of screening, ethical and economic debates, along with thorough description of the conditions routinely screened for. Following are highly detailed chapters dedicated to the specific neonatal screening programmes currently in use, as well as complimenting chapters that provide future directions for each field. Additional discussion of topical issues, such as the incorporation of genetic counselling into screening programmes, optimal communication with families, and the advent of integrated, non-discipline specific, national data systems, are contained in the final chapters.
    Title: Newborn Screening Systems: The Complete Perspective
    Authors: Driscoll C; McPherson, B.
    Publisher: Plural Publishing Inc., March 2010
    ISBN 13: 978-1597563185


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the European Union Committee of Experts on Rare Diseases
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