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National strategy for rare diseases approved in Czech Republic

On 14 June then-acting Czech Republic Prime Minister Jan Fischer announced that the government has approved the country’s first national strategy for rare diseases. There are some 20,000 rare disease patients amongst the nation’s 10.5 million population. The ten-year strategy will allow rare disease patients to access appropriate diagnostics and treatment. Care is to be concentrated in 10 to 20 centres. The establishment of a National Coordination Centre for rare diseases in the Prague-Motol Teaching Hospital coincides with the approval of the strategy. Besides diagnostics and treatment, the strategy will encompass research, public information, training for health professionals, and quality of life for patients. An inter-ministerial working group for rare diseases will be formed. A budget for the strategy was not announced.

EU Policy News
European Council agrees to revised cross-border healthcare draft directive
0n 8 June, the Council in charge of Employment, Social Policy, Health and Consumer Affairs agreed on a revised draft Proposal for a Directive of the European Parliament and of the Council on the Application of Patients’ Rights in Cross-Border Healthcare. The revised draft directive, based on compromises promoted by the Spanish EU presidency, “reflects the Council’s intention to fully respect the case law of the European Court of Justice on the patients’ rights in cross-border healthcare while preserving member states’ rights to organise their own healthcare systems.” The draft directive thus “provides clarity about the rights of patients who seek healthcare in another member state and supplements the rights that patients already have at the EU level through the legislation on the coordination of social security schemes (regulation 883/04).” The right to seek treatment unavailable in one’s own country is particularly pertinent to rare disease patients who frequently struggle with a lack of local expertise and resources. The Cross-Border Directive would facilitate “access to safe and high-quality cross-border healthcare and…promote cooperation on healthcare between member states.” As was previously reported in OrphaNews Europe, the draft directive proposal was adopted by the European Parliament in April 2009. Since then, it has been revised to calm Member States’ worries over potential financial fall-out. The proposed directive, containing new provisions that would give Member States more authority, will return to the Parliament following the adoption of the Council at first reading in September.

CHMP chair and vice-chair re-elected for second mandate
The European Medicine Agency’s Committee for Medicinal Products for Human Use (CHMP) has unanimously re-elected Dr Eric Abadie as Chair and Dr Tomas Salmonson as Vice-Chair for a second 3-year mandate.
EMA Paediatric Committee launches a call for representatives
As part of the Paediatric Regulation (EC No 1901/2006) that came into effect in January 2007 to stimulate research and development of medicines for use in children, ensure that medicines for children are appropriately tested and authorised, and improve information availability, the Paediatric Committee (PDCO) was developed within the European Medicines Agency in July 2007 to provide scientific opinions on medicines intended for use in children. The European Commission has now issued a call for expression of interest for three representatives from patient organisations and three representatives from healthcare professional organisations to join the PDCO as full members for a three-year mandate. This call is intended to replace the members who were appointed for the period starting on 1 August 2008. Current members may reapply. Expressions of interest should be submitted by 6 September 2010.
Learn more

SME office receives European Mediscience Award
The Small and Medium-sized Enterprise (SME) Office of the European Medicines Agency was the recipient of a 2010 European Mediscience Award for "Most significant contribution to the mediscience sector". Established in 2005, the SME Office encourages smaller European companies developing innovative new medicines - particularly promising to the field of rare diseases - by providing financial incentives and administrative assistance.

National & International Policy Developments
Sweden establishes a focal point for improving coordination and information for rare diseases
The government of Sweden decided on 23 June of this year to establish a national focal point for coordination and dissemination of information in the field of rare diseases. Responsible for linking rare disease efforts, knowledge and information within and between health services, NGOs and other stakeholders, the government will spend about €300K during 2010 and 2011 to accomplish this aim. The National Board of Health and Welfare now has to decide how the main functionalities should be organised. The decision represents an important step toward better utilisation of the resources available for these groups of patients and their relatives. The focal point will be able to create an overview of existing resources but also identify areas to develop that may be urgent for people with rare diseases. Learn more (in Swedish language)
New UK report weighs extending newborn screening to five more rare diseases
Under current policy in the United Kingdom, newborn screening is performed for five disorders: phenylketonuria, congenital hypothyroidism, sickle-cell disorders (haemoglobinopathies), cystic fibrosis and medium chain acyl coA dehydrogenase deficiency. Expanded newborn screening: A review of the evidence is a new report produced by the charitable organisation the Foundation for Genomics and Population Health, (PHG Foundation) and funded by the National Institute of Health Research - Collaboration for Leadership in Applied Health Research and Care - South Yorkshire that examines the potential benefits, harms and costs of adding five inherited metabolic disorders to the current newborn screening roster: maple syrup urine disease, homocystinuria, glutaric aciduria Type I, isovaleric acidaemia and long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. The report determines "that there is potential to reduce death and severe disability caused by these conditions in a cost-effective manner" while acknowledging "the downsides of screening, including some anxiety in parents that have an initial false positive result and, occasionally identification of milder variants who might not need treatment". The authors call for a pilot study. Consult the report
A resource with a (re)purpose: the Rare Disease Repurposing Database
In order to encourage the development of more treatments for rare conditions, the Office of Orphan Products Development (OOPD) at the Food and Drug Administration in the USA has gathered existing but scattered information into a new database of approved compounds and products that show promise for treating rare diseases. Working from the position that there are real benefits (amongst which cost figures significantly) for sponsors to work with substances that have already leapt through all the clinical trial hoops leading to approval, the Rare Disease Repurposing Database (RDRD) is divided into three distinct sections:

  • Orphan-designated products with at least one marketing approval for a common disease indication
  • Orphan-designated products with at least one marketing approval for a rare disease indication
  • Orphan-designated products with marketing approvals for both common and rare disease indications

  • Each table provides users with the name of the molecule or substance, the orphan designation date, the rare and common indication(s), all trade names, and the sponsor name(s). Drug developers are encouraged to review the lists and contact the OOPD if they come across a compound that they would like to potentially work with for a rare indication. In an article appearing on the Wall Street Journal Health Blog, OOPD director Timothy Coté describes the process of examining over 2,000 orphan drug designations in order to compile the RDRD, which currently contains over 235 substances. It is expected that, besides drug companies, the database will be of interest to "venture capitalists looking for promising investments and patient advocacy groups eager to drive drug development for their rare condition". The OOPD hopes to "do some repurposing" itself and will be scouring the list in order to "identify some particularly promising products, and urge the companies to move forward". Consult the RDRD

    OECD Guidelines on Human Biobanks and Genetic Research Databases available online
    Following an open consultation in early 2008, the Organisation for Economic Co-operation and Development late last year issued the OECD Guidelines on Human Biobanks and Genetic Research Databases. The document outlines the principles and best practices on a number of related issues, including the establishment, maintenance and content of Human Biobanks and Genetic Research Databases (HBGRDs), as well as the protection of human biological materials and data; access; qualification, education and training; custodianship, benefit-sharing and intellectual property; and the demise of the HBGRD and disposal of materials and data. Consult the OECD guidelines
    Other European news
    Genetic Interest Group becomes Genetic Alliance UK
    In the United Kingdom, the Genetic Interest Group has had a make-over that has resulted in a name change, as well as a new logo and slogan. The long-established non-profit group with over 130 member organisations believes the new name - Genetic Alliance UK - as well as the updated slogan and logo more accurately reflect the work of the group.

    Other International News
    Molecular testing best practice guidelines developed for Duchenne and Becker muscular dystrophy
    A workshop jointly organised and sponsored by the European Molecular Genetics Quality Network, EuroGentest, TREAT-NMD and hosted by the European Neuro-Muscular Centre, gathered international experts from over 20 countries to delineate best practice guidelines for the molecular testing of Duchenne and Becker muscular dystrophy. The guidelines, freely available to download from the journal Neuromuscular Disorders, encompass internal and external quality control; various types of laboratory referral; results interpretation; and results reporting.

    Orphanet News
    The Orphanet Journal of Rare Diseases does it again! The 2009 Impact Factor climbs to 5.825
    What a difference just a year makes! The 10 July 2009 issue of OrphaNews Europe reported that the Orphanet Journal of Rare Diseases (OJRD) had more than doubled its impact factor from 2007 to 2008, from 1.30 to 3.14. Now, the 2009 Thomson Reuter Journal Citation Reports reveals another impressive hike for the OJRD Impact Factor, which climbed 2.69 in 2009 to reach 5.825. An Impact Factor is a measure of the citation frequency of articles over a precise period of time and is calculated "by dividing the number of current year citations to the source items published in that journal during the previous two years". The Journal Citation Reports provide a critical evaluation of the leading journals, offering quantifiable statistics based on citation data. Publisher BioMed Central reports that the OJRD has "moved into the top 10% of [almost 100] journals in the "Medicine, research & experimental" category".

    New Texts
    New Orphanet Journal of Rare Diseases publications
    Inherited epidermolysis bullosa
    Joubert syndrome and related disorders


    New Syndromes

    Mammary-digital-nail syndrome: a novel phenotype mapping to human chromosome 22q12.3-13.1
    Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the breast in affected females. This newly described genetic trait presents an autosomal dominant inheritance pattern, with either reduced penetrance or germ-line mosaicism. The locus for the phenotype has been defined within a 12 cM (4.3 Mb) interval on chromosome 22q12.3-13.1. This chromosomal region has not been implicated before in genetic disorders of the mammary tissue or limbs.
    Read the PubMed abstract

    Eur J Hum Genet ; 662-667 ; June 2010
    Congenital absence of the left pericardium and diaphragmatic defect in two siblings
    Congenital absence of the left pericardium (allowing communication between pericardial and pleural cavities) is a rare developmental defect that results from faulty partitioning of the pleuropericardic cavity during the fifth week of development. It occurs sporadically in most instances, and may be associated with other malformations of the thoracic viscera. The authors report two siblings born to consanguineous parents with absent left fibrous pericardium and developmental defects of the septum transversum: left posterolateral diaphragmatic hernia in one child, left diaphragmatic eventration in the other. This appears to be the first familial report of this rare association.
    Read the PubMed abstract

    Eur J Med Genet ; 133-135 ; May-June 2010
    New syndrome with marked growth restriction, intellectual deficit and absent or severely delayed speech
    In this study, nine unrelated patients with overlapping de novo interstitial microdeletions involving 4q21 are reported. Several major features are common to all patients, including neonatal muscular hypotonia, severe psychomotor retardation, marked progressive growth restriction, distinctive facial features and absent or severely delayed speech. Clinical and molecular delineation of 4q21 deletion supports a novel microdeletion syndrome and suggests a major contribution of PRKG2 and RASGEF1B haploinsufficiency to the core phenotype.
    Read the PubMed abstract

    J Med Genet ; 377-384 ; June 2010
    Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children
    To date, two mutations in the gene JUP, have been described, and in both instances, patients harbouring pathogenic mutations suffered from arrhythmogenic right ventricular cardiomyopathy with or without skin abnormalities. The authors describe a homozygous nonsense mutation and homozygous splice site mutation in the JUP gene that results in skin fragility, diffuse palmoplantar keratoderma, and woolly hair but with no symptoms of cardiomyopathy.
    Read the PubMed abstract

    J Invest Dermatol ; 1543-1550 ; June 2010

    New Genes

    Reynolds syndrome: LBR mutation and nuclear envelope defects in an affected patient
    Lamins are proteins of the nuclear envelope involved in laminopathies, a heterogeneous group of diseases sharing clinical similarities with systemic sclerosis. In a Caucasian woman affected with Reynolds syndrome, a single heterozygous missense mutation in the gene LBR was identified. The fibroblast specific abnormalities observed suggest that this particular LBR mutation might have dominant negative deleterious effects in a tissue specific fashion, possibly through the perturbation of the interactions or stability of the nuclear envelope protein network. LBR mutations might thus be associated with Reynolds syndrome.
    Read the PubMed abstract

    To read more about "Reynolds syndrome"

    J Med Genet ; 361-370 ; June 2010
    Schinzel-Giedion syndrome: De novo mutations of SETBP1 at cause
    Schinzel-Giedion syndrome is characterised by severe intellectual deficit, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. The authors sequenced the exomes of four affected individuals and found heterozygous de novo variants in SETBP1 in all four. They also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
    Read the PubMed abstract

    To read more about "Midface retraction syndrome, Schinzel-Giedion type"

    Nat Genet ; 483-485 ; June 2010
    Seckel syndrome: CENPJ mutation at cause
    Primordial dwarfism (PD) is an extremely rare, clinically heterogeneous condition characterised by profound prenatal and postnatal growth restriction among other manifestations. Recently, mutation of PCNT was reported in the context of two overlapping forms of PD: Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II (MOPDII). In a consanguineous family with Seckel syndrome, linkage analysis led to the identification of a novel splice-site mutation in CENPJ.
    Read the PubMed abstract

    To read more about "Seckel syndrome"

    J Med Genet ; 411-414 ; June 2010
    Oculo-auriculo-vertebral spectrum: two neighbouring microdeletions of 5q13.2 in a child
    The authors describe a patient with multiple congenital anomalies, including hemifacial microsomia, asymmetric macrostomia, dysplastic mandible, multiple preauricular tags, atresia of the external auricular canal, and vertebral anomalies, which coincide with oculo-auriculo-vertebral spectrum. A genome-wide screen for copy number variations (CNVs) using single nucleotide polymorphism (SNP) arrays revealed a 1Mb and a 167 kb deletion both on chromosome 5q13.2, which were absent in the parents and in 27 controls. Sixteen genes were located in the deleted region, including BIR1C and OCLN which are involved in apoptosis.
    Read the PubMed abstract

    To read more about "Oculo-auriculo-vertebral spectrum"

    Eur J Med Genet ; 153-158 ; May-June 2010

    Research in Action

    Fundamental Research
    Neonatal hemochromatosis: novel mechanism of foetal hepatocyte injury involves the terminal complement cascade
    The finding that all cases of proven neonatal hemochromatosis (NH) contained the terminal complement cascade neoantigen far in excess of cases of other neonatal liver diseases suggests that a single process, namely congenital alloimmune hepatitis, is the principal cause of NH. The authors show that membrane attack complex mediated alloimmune injury in congenital alloimmune hepatitis is a novel mechanism of liver injury that results from an interplay of maternal adaptive immunity and foetal innate immunity.
    Read the PubMed abstract

    To read more about "Neonatal hemochromatosis"

    Hepatology ; 2061-2068 ; June 2010
    Spinocerebellar ataxia type 3: silencing ataxin-3 mitigates degeneration in a rat model
    Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 is a fatal, autosomal dominant disorder caused by a cytosine-adenine-guanine expansion in the coding region of the MJD1 gene. RNA interference has potential as a therapeutic approach but raises the issue of the role of wild-type ataxin-3 (WT ATX3) in MJD and of whether the expression of the wild-type protein must be maintained. To address this issue, the authors both overexpressed and silenced WT ATX3 in a rat model of MJD. They showed that (i) overexpression of WT ATX3 did not protect against MJD pathology, (ii) knockdown of WT ATX3 did not aggravate MJD pathology and that (iii) non-allele-specific silencing of ataxin-3 strongly reduced neuropathology in a rat model of MJD. These findings indicate that therapeutic strategies involving non-allele-specific silencing to treat MJD patients may be safe and effective.
    Read the PubMed abstract

    To read more about "Spinocerebellar ataxia type 3"

    Hum Mol Genet ; 2380-2394 ; 15 June 2010
    Nance-Horan syndrome protein encodes a functional WAVE homology domain and is important in coordinating actin remodelling
    Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterised by bilateral congenital cataracts, dental anomalies, facial dysmorphism and intellectual deficit. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alternative transcription, but a cellular function for the NHS protein has yet to be defined. The authors demonstrate that NHS controls cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. The authors suggest that NHS orchestrates actin regulatory protein function in response to signalling events during development.
    Read the PubMed abstract

    To read more about "Nance-Horan syndrome"

    Hum Mol Genet ; 2421-2432 ; 15 June 2010
    Clinical Research
    Arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
    Five desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) but the clinical impact of genetics remains poorly understood. This study supports the use of genetic testing as a new diagnostic tool in ARVD/C and also suggests a prognostic impact, as the severity of the disease appears different according to the underlying gene or the presence of multiple mutations.
    Read the PubMed abstract

    To read more about "Arrhythmogenic right ventricular dysplasia"

    Europace ; 861-868 ; June 2010
    Fragile X syndrome: region-specific alterations in brain development in one- to three-year-old boys
    Longitudinal neuroimaging investigation of fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism, provides an opportunity to study the influence of a specific genetic factor on neurodevelopment in the living human brain. This study indicates that structural abnormalities of different brain regions in FXS evolve differently over time reflecting time-dependent effects of FMRP deficiency and provide insight into their neuropathologic underpinnings. The creation of an early and accurate human brain phenotype for FXS in humans will significantly improve the capability to detect whether new disease-specific treatments can "rescue" the FXS phenotype in affected individuals.
    Read the PubMed abstract

    To read more about "Fragile X syndrome"

    PNAS USA ; 9335-9339 ; 18 May 2010
    Guillain-Barré syndrome: prediction of respiratory insufficiency
    Respiratory insufficiency is a frequent and serious complication of the Guillain-Barré syndrome (GBS). The authors developed a simple but accurate model to predict the chance of respiratory insufficiency in the acute stage of the disease based on clinical characteristics available at hospital admission. This model accurately predicts development of respiratory insufficiency within one week in patients with GBS, using clinical characteristics available at admission. After further validation, the model may assist in clinical decision making, such as patient transfer to an intensive care unit.
    Read the PubMed abstract

    To read more about "Guillain-Barré syndrome"

    Ann Neurol ; 781-787 ; June 2010
    Osteogenesis imperfecta: genotype-phenotype correlations in nonlethal form caused by mutations in the collagen helical domain
    Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with short stature, tooth abnormalities (dentinogenesis imperfecta), and blue sclera. The most common mutations associated with OI result from the substitution for glycine by another amino acid in the triple helical domain of either the alpha1 or the alpha2 chain of collagen type I. In this study, the authors compared the results of genotype analysis and clinical examination in 161 OI patients who had glycine mutations in the triple helical domain of alpha1(I) or alpha2(I). Serine substitutions were the most frequently encountered type of mutation in both chains. Compared with patients with serine substitutions in alpha2(I), patients with serine substitutions in alpha1(I) on average were shorter, indicating that alpha1(I) mutations cause a more severe phenotype. Height correlated with the location of the mutation in the alpha2(I) chain but not in the alpha1(I) chain. Patients with mutations affecting the first 120 amino acids at the amino-terminal end of the collagen type I triple helix had blue sclera but did not have dentinogenesis imperfecta. Among patients from different families sharing the same mutation, about 90 and 75% were concordant for dentinogenesis imperfecta and blue sclera, respectively. These data should be useful to predict disease phenotype in newly diagnosed OI patients.
    Read the PubMed abstract

    To read more about "Osteogenesis imperfecta"

    Eur J Hum Genet ; 642-647 ; June 2010
    Therapeutic Approaches
    Waldenstrom macroglobulinemia: anti-tumour therapy via selective proteasome inhibition
    Proteasome inhibition represents a valid antitumour approach and its use has been validated in Waldenström macroglobulinemia (WM), where bortezomib has been successfully tested in clinical trials. Nevertheless, a significant fraction of patients relapse, and many present toxicity due to its off-target effects. Selective inhibition of the chymotrypsin-like (CT-L) activity of constitutive proteasome 20S (c20S) and immunoproteasome 20S (i20S) represents a sufficient and successful strategy to induce antineoplastic effect in hematologic tumours. The authors studied ONX0912, a novel selective, irreversible inhibitor of the CT-L activity of i20S and c20S. Their findings suggest that targeting i20S and c20S CT-L activity by ONX0912 represents a valid antitumour therapy in WM.
    Read the PubMed abstract

    To read more about "Waldenström macroglobulinemia"

    Blood ; 4051-4060 ; 20 May 2010
    Mucopolysaccharidosis IV: enhancement of enzyme-replacement therapy drug delivery
    Mucopolysaccharidosis IVA (MPS IVA, Morquio A disease) is an inherited lysosomal storage disorder that features skeletal chondrodysplasia caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Human GALNS was bioengineered with the N-terminus extended by the hexaglutamate sequence (E6) to improve targeting to bone (E6-GALNS). The authors report on the feasibility of using tagged enzyme to enhance delivery and pathological effectiveness in Morquio A mice.
    Read the PubMed abstract

    To read more about "Mucopolysaccharidosis type 4"

    Mol Ther ; 1094-1102 ; June 2010
    Diagnostic Approaches

    Juvenile idiopathic arthritis: synovial fluid proteins differentiate between the subtypes
    Juvenile idiopathic arthritis (JIA) is a heterogeneous group of inflammatory diseases, and no clinically useful prognostic markers to predict disease outcome in children with JIA are currently available. Synovial fluid likely reflects the proteins present in the inflamed synovium. In this study, the authors show that despite the similar histologic appearance of inflamed joints in patients with different subtypes of JIA, there are differences in protein expression according to the subtype of JIA. Haptoglobin is differentially expressed between the subtypes of JIA and is locally produced in an inflamed joint in JIA. Haptoglobin and other differentially expressed proteins may be potential biomarkers in JIA.
    Read the PubMed abstract

    To read more about "Juvenile idiopathic arthritis"

    Arthritis Rheum ; 1813-1823 ; June 2010

    Patient Management and Therapy

    Lynch syndrome: one to two-year surveillance intervals reduce risk of colorectal cancer in families
    Two percent to 4% of all cases of colorectal cancer (CRC) are associated with Lynch syndrome. Dominant clustering of CRC (non-Lynch syndrome) accounts for 1%-3% of the cases. Because carcinogenesis is accelerated in Lynch syndrome, an intensive colonoscopic surveillance programme has been recommended since 1995. The authors report that with surveillance intervals of 1-2 years, members of families with Lynch syndrome have a lower risk of developing CRC than with surveillance intervals of 2-3 years. Because of the low risk of CRC in non-Lynch syndrome families, a less intensive surveillance protocol can be recommended.
    Read the PubMed abstract

    To read more about "Hereditary nonpolyposis colon cancer"

    Gastroenterology ; 2300-2306 ; June 2010
    Amyotrophic lateral sclerosis: combining lithium with riluzole does not slow disease progression
    In a pilot study, lithium treatment slowed progression of amyotrophic lateral sclerosis (ALS). The authors aimed to confirm or disprove these findings by assessing the safety and efficacy of lithium in combination with riluzole in patients with ALS. In a double-blind, placebo-controlled trial with a time-to-event design, they found no evidence that lithium in combination with riluzole slows progression of ALS more than riluzole alone.
    Read the PubMed abstract

    To read more about "Amyotrophic lateral sclerosis"

    Lancet Neurol ; 481-488 ; May 2010
    Dravet syndrome: effects of vaccination on disease onset and outcome
    Pertussis vaccination has been alleged to cause an encephalopathy that involves seizures and subsequent intellectual disability. In a previous retrospective study, 11 of 14 patients with so-called vaccine encephalopathy had Dravet syndrome that was associated with de novo mutations of the sodium channel gene SCN1A. In this study, the authors found that vaccination might trigger earlier onset of Dravet syndrome in children who, because of an SCN1A mutation, are destined to develop the disease. However, vaccination should not be withheld from children with SCN1A mutations because they found no evidence that vaccinations before or after disease onset affect outcome.
    Read the PubMed abstract

    To read more about "Dravet syndrome"

    Lancet Neurol ; 592-598 ; June 2010
    Juvenile idiopathic arthritis: long-term safety and efficacy of abatacept in children
    The authors previously documented that abatacept was effective and safe in patients with juvenile idiopathic arthritis (JIA) who had not previously achieved a satisfactory clinical response with disease-modifying antirheumatic drugs or tumor necrosis factor blockade. This report describes the long-term, open-label extension phase of a double-blind, randomized, controlled withdrawal trial in 190 patients with JIA ages 6-17 years. Children were treated with 10 mg/kg abatacept administered intravenously every 4 weeks, with or without methotrexate. Abatacept provided clinically significant and durable efficacy in patients with JIA, including those who did not initially achieve an ACR Pedi 30 response during the initial 4-month open-label lead-in phase.
    Read the PubMed abstract

    To read more about "Juvenile idiopathic arthritis"

    Arthritis Rheum ; 1792-1802 ; June 2010

    Orphan Drugs

    Pfizer to create rare disease research unit
    Pfizer Inc. has announced plans to create a special research unit devoted exclusively to rare diseases. According to a press release, the Cambridge, Massachusetts-based Rare Disease Research Unit "will pursue treatments across all therapeutic areas and modalities and will serve as the focal point for the company’s existing research on rare diseases." The company stated that it will collaborate closely with patient groups on the research strategy of the new unit. As was reported in the 02 June issue of OrphaNews Europe, GlaxoSmithKline (GSK) has also announced a new standalone unit directly targeting the development and commercialisation of products for rare disorders.
    Positive opinions adopted at the June CHMP meeting for the treatment of angioedema attacks and Gaucher disease
    At the June meeting for the EMA’s Committee for Medicinal Products for Human Use (CHMP) two orphan drug products were given positive opinions for marketing authorisation. Ruconest (conestat alfa), previously known as Rhucin, from Pharming Group NV, received a positive opinion for the treatment of angioedema attacks. Vpriv (velaglucerase alfa) from Shire Pharmaceutical Ireland was given a positive opinion following an accelerated assessment for the treatment of Gaucher disease.

    Orphan drug approvals, withdrawals and shortages from the FDA
    In the USA, the Food and Drug Administration has recently extended the indication of Tasigna (nilotinib) for the treatment of Philadelphia chromosome positive chronic phase chronic myeloid leukaemia (CML) to adult patients in earlier stages of the disease. Tasigna received marketing authorisation in the European Union for CML patients with resistance or intolerance to prior therapy in 2007. The FDA also approved Lumizyme (alglucosidase alfa) - with a risk evaluation and mitigation strategy - for patients with late-onset Pompe disease. Currently, the only other treatment for Pompe disease is Myozyme, which has been in short supply. The FDA also reports that Pfizer Inc. has voluntarily withdrawn Mylotarg (gemtuzumab ozogamicin) indicated for acute myeloid leukaemia following an FDA request based on trial results that call into question the safety and efficacy of the product. Finally, the FDA has issued a statement to healthcare professionals regarding the restricted availability of Thyrogen (recombinant thyroid stimulating hormone) used to treat thyroid cancer. Thyrogen is one of several Genzyme products temporarily in short supply due to manufacturing problems.

    Two orphan treatments receive the Prix Galien France 2010

    Celgene and Amgen were awarded the 2010 Prix Galien France for Vidaza (azacitidine) and Nplate (romiplostim), respectively, both in the category of Medicines for Rare Diseases. Vidaza is indicated for intermediate-2 and high-risk myelodysplastic syndromes as well as for chronic myelomonocytic leukaemia and acute myeloid leukaemia. Nplate is indicated for immune thrombocytopenic purpura, an autoimmune coagulation disorder. The Prix Galien, created in France in 1970 in order to promote innovation in pharmaceutical research, honours innovative biopharmaceutical drugs and devices "that have made a deep impact on the quality of human life". The award has since been inaugurated across Europe and Canada and is now considered the most prestigious award of its kind in a dozen different countries.



    Grant monies available for Neuronal Ceroid Lipofuscinosis research
    In May 2009, OrphaNews Europe interviewed Dr. Frank Stehr, director of the NCL-Foundation, a non-profit organisation located in Hamburg, Germany, dedicated to increasing public awareness of Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, in order to promote the early diagnosis of the disease; build a network of medical specialists and basic science researchers of different disciplines in order to coordinate national and international expertise; and initiate research to develop possible cures. The NCL-Foundation is inviting medical and basic science researchers worldwide to submit innovative clinical oriented or translational basic science projects, which can contribute to finding a cure for juvenile NCL. Scientists from related areas of science including Alzheimer disease, aging, and other lysosomal storage disorders, are particularly encouraged to apply with the aim to extend the NCL research community in move more efficiently towards a cure for NCL. Grant monies (€50,000) are to be used for a PhD fellowship in order to undertake the research project. Learn more
    Chronic Granulomatous Disorder Research Trust call for applications
    The Chronic Granulomatous Disorder (CGD) Research Trust is inviting research applications. Up to a maximum of £100k (€120k) is available to fund innovative research into the cause, inheritance, diagnosis, management and treatment of the primary immunodeficiency CGD. In the first instance please contact Dr Walsh for a preliminary application form.

    News from the Patients' Associations
    Jimmyteens.tv gives young cancer patients their own forum for expression
    In the United Kingdom, the jimmyteens.tv website offers adolescent cancer patients, along with their families and care givers, a unique forum through which to express their experiences and share information. Supported by the Teenage Cancer Trust, jimmyteens.tv features hundreds of videos made in large part by youngsters from hospitals throughout England, Scotland, Wales and Northern Ireland. The videos can be selected by category (diaries, information, fund-raising…), by location, by theme, or by author/creator. Jimmyteens.tv allows young people the opportunity to tell their stories and to connect with one another. All of the paediatric cancers are rare conditions.


    Courses & Educational Initiatives

    4th Inborn Errors in Neonatology Course
    Date: 21-23 October 2010
    Venue: Dubrovnik, Croatia

    This practical course is run by an experienced team of paediatricians, neonatologists, molecular biologists and biochemists specialised in metabolic medicine, who already contributed substantially to the understanding of metabolic disorders in childhood. The two and a half days course includes lectures and seminars for 35 participants. The course is aimed at paediatricians with about 2-3 years clinical experience in the neonatology field. 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?

    2th International Congress on Neuromuscular Diseases
    Date: 17-22 July 2010
    Venue: Naples, Italy

    Offering a variety of sessions including paediatric neuromuscular diseases, genetic testing and diagnosis, pathogenic mechanisms of inherited neuropathies, novel therapeutic targets at the neuromuscular junction, motor neuron diseases, and much more.
    For further details

    International All Star Vasculitis Symposium
    Date: 30 July-1 August 2010
    Venue: Long Beach, CA, USA

    Topics will cover all the vasculitides and will concentrate on the advances in medical treatments, research and quality of life issues for patients.
    For further details

    FDA Orphan Drug Workshop
    Date: 3-4 August 2010
    Venue: Minnesota, USA

    Over two days, FDA staff from the Office of Orphan Products Development (OOPD) will provide regulatory assistance to sponsors to find regulatory paths forward. Most of the time will be spent in application writing and individual one-on-one guidance sessions to develop the strongest possible orphan designation application to be submitted at the close of the workshop.
    For further details

    26th International Congress of Pediatrics
    Date: 4-9 August 2010
    Venue: Johannesburg, South Africa

    Amongst the general programme are symposia on primary immunodeficiency diseases in resource-limited settings, appropriate genetic testing, and a workshop on approaches to the dysmorphic child.
    For further details

    The Tuebingen Outer Retina Conference
    Date: 29-31 August 2010
    Venue: Tuebingen, Germany

    The conference focus is on the outer retina, the bipolar cells, and associated disorders. Sessions will cover genetic, anatomic, and neurophysiologic aspects, pathophysiology and diagnostics in inherited and light-induced retinal degenerations, animal models, and therapeutic strategies. Deadline for abstract submissions: 30 July 2010
    For further details

    2nd Congress of the European Society for Paediatric Anaesthesiology
    Date: 2-4 September 2010
    Venue: Berlin, Germany

    Amongst the programme of this congress will be a session entitled “Rare diseases: a common problem!” featuring the anaesthetic management of a child with a rare disease; approaches to rare diseases at the national and European level; and the OrphanAnaesthesia project.
    For further details

    International Society for Cellular Therapy (ISCT Europe) Second Regional meeting
    11-14 September 2010
    Belgirate, Italy

    The ISCT is the global forum and resource for developing and supporting innovative cellular therapies through communication, education, and training, thus furthering clinical based investigation for the benefit of patients. Topics of this European regional meeting will include hematopoietic stem cells, mesenchymal stromal cells, immunotherapy, gene therapy, tissue engineering, new emerging therapies, legal and regulatory affairs, prenatal issues: cord blood, placenta and umbilical cord.
    For further details

    MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
    Date: 16-18 September 2010
    Venue: Viareggio, Italy

    This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
    For further details

    Second AnEUploidy Workshop
    Date: 17-19 September 2010
    Venue: Split, Croatia

    AnEUploidy is the acronym of an Integrated Project (IP) funded by the European Commission within its Sixth Framework Programme. This project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. This second workshop will allow colleagues to share views, advancements, and ideas.
    For further details

    International Data Sharing Conference
    Date: 20-22 September 2010
    Venue: Oxford, UK

    This international three day conference is organised by the Centre for Health, Law and Emerging Technologies at the University of Oxford. It will address the implications of data sharing in research and how it should be effectively governed. The conference will bring together a wide range of voices to discuss and think more deeply about the technological, legal, ethical, and social challenges raised by research data sharing. There will be a satellite workshop on ethical and philosophical issues arising from data sharing.
    For further details

    First European Conference on Lymphangioleiomyomathosis (LAM)
    Date: 1-3 October 2010
    Venue: Udine, Italy

    This conference provides an unprecedented experience to learn about scientific updates across various fields and the latest results on recent drug trials. In addition, representatives from many LAM associations across the world will attend to learn from each others’ experiences on how to gather patients, promote involvement in the LAM community and raise awareness.
    For further details

    International Meeting on Fibrous Dysplasia of Bone/McCune-Albright Syndrome: Best Clinical Practice and Future Research
    Date: 3-5 October 2010
    Venue: Bethesda, Maryland, USA

    This conference will gather experts to develop a consensus on the best current medical and surgical treatment of fibrous dysplasia, MAS and Cherubism, to define areas of focus for future research, and to establish parameters for a registry/bio repository to aid research. Participants in the meeting include paediatric and adult orthopaedic specialists, cranio facial surgery, plastic surgery, endocrinology, and specialists in stem cells, microbiology and pathology from the USA, Israel, Italy, and Taiwan.
    For further details

    XIV Meeting of the European Society for Immunodeficiencies and IX Meeting of the Int’l Nursing Group for Immunodeficiencies
    Date: 6-9 October 2010
    Venue: Istanbul, Turkey

    Featuring an interesting scientific programme of clinical, laboratory and molecular findings, diagnosis, prevention and treatment for common and rare primary immunodeficiencies. Held in tandem with the XIth Meeting of the International Patient Organisation for Primary Immunodeficiencies.
    For further details

    2nd European Rett Syndrome Conference
    Date: 7-10 October 2010
    Venue: Edinburgh, Scotland

    Sessions include clinical and molecular update on MECP2 and Rett Syndrome; non coding RNAs & brain development; lessons from other diseases and other models; treatments and trials; outcome measures, international collaborations; and current perspectives and next steps.
    For further details

    15th International Congress of World Muscle Society
    Date: 12-16 October 2010
    Venue: Kumamoto, Japan

    The main topics to be addressed include new therapeutic targets for neuromuscular disorders; congenital muscular dystrophies (celebrating the 50th anniversary of Fukuyama congenital muscular dystrophy); and distal myopathies and protein aggregation myopathies.
    For further details

    26th Annual Meeting of the Histiocyte Society
    Date: 18–20 October 2010
    Venue: Boston, Massachusetts USA

    This year’s scientific programme will feature presentations by several experienced researchers regarding a variety of perspectives on the histiocytic disorders.
    For further details

    Pemphigus & Pemphigoid: From the Bench to the Bedside
    Date: 5-6 November 2010
    Venue: Bethesda, Maryland, USA

    The meeting will bring together physicians and scientists interested in these diseases to meet face-to-face and facilitate interactions. The goal is to identify areas of research opportunity that will promote understanding of the causes and provide experimental and clinical justification for novel treatments of pemphigus and pemphigoid.
    For further details

    11th EPPOSI workshop on rare disease therapy development workshop
    Date: 29-30 November 2010
    Venue: Prague, Czech Republic

    The topics of this year’s European Platform for Patients’ Organizations, Science and Industry workshop will include: Science - the determinants of research in rare disease in Europe: understanding the current and future European Research and Development challenges and opportunities; Regulation - the Europe and beyond: developing future regulations and policies for better rare disease therapies; and Sustainable Access - The reality we face to improve access to and affordability of orphans.
    For further details

    4th International Meeting on the congenital disorders of glycosylation and related disorders
    Date: 13-14 January 2011
    Venue: Leuven, Belgium

    The meeting will cover all aspects of these disorders, including the discovery of novel types, the study of fundamental aspects of glycosylation, analytical procedures and diagnostic methods and the analysis of models for the disease. The meeting is organized by EUROGLYCANET, a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders. The call for abstracts will open shortly.
    For further details


    Press & Publications

    A Guide to Human Gene Therapy
    Authors: RW Herzog and S Zolotukhin –Eds.
    Publisher: World Scientific Publishing Co, June 2010
    ISBN: 978-981-4280-90-7

    A Guide to Human Gene Therapy covers topics at the forefront of biomedical research such as RNA interference, viral and non-viral gene transfer systems, treatment of haematological diseases and disorders of the central nervous system. Leading experts on the respective vector or disease contribute chapters and explain cutting-edge technologies. This book gives a broad overview of the most important gene transfer vectors and most extensively studied target diseases – including haemoglobinopathies; primary immunodeficiencies; Duchenne muscular dystrophy; inherited metabolic storage diseases, and more.


    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, Kate Bushby, Catherine Berens, Helena Kaariainen, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Christophe Roeland

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
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