2 April 2008 print
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Editorial
 
Rare Diseases Task Force working groups meet in Paris
 
Three workshops recently took place in Paris to allow working groups of the RDTF to meet and discuss prior to publishing recomendations in three important fields. On 11 March, the working group on Standards of Care was invited to brainstorm on what is expected from European networks of centres of expertise, in the perspective of assessing the added-value of the pilot networks that have been selected for funding these past two years. The discussion led to a clarification between the scope of a network of clinical centres versus a European network of clinical research centres. The former is a platform designed to share expert opinions on individual cases, whereas the most important issue for a European network of clinical research centres is the sharing of data and biological material. A final report, in preparation, will be open for discussion before being presented to the High level group on health services and medical care.

On 12 March, the working group on Health Indicators met for the second time to review possible indicators in the field of rare diseases to be used as public health instruments to assess the impact of rare diseases on morbidity and mortality, and to follow-up the different policy impacts in the member states. A report will be published soon.

On 13 March, the working group on Health Indicators also worked on a document to be issued providing guidance on the establishment and management of patient registries in the field of rare diseases. The invaluable experience of well-established registries proved useful in fine tuning the preparatory document. A report should be published for wide dissemination before the end of May. OrphaNews Europe will inform readers as soon as these three publications become available.

 


 
Spotlight on...
 

CONTICANET
Harmonising connective tissue cancer research and treatment development
 
The CONnective TIssue CAncers NETwork to integrate European Experience (CONTICANET) is dedicated to promoting research into the connective tissue cancers in adults, adolescents and children. Funded by the European Commission’s Sixth Framework Program (LSH-2004-2.2.0-1), this Network of Excellence kicked off in February 2006, funded for a five-year period. Connective tissue cancers include more than 50 different rare tumours. Within the European Union, incidence is not well known, but considered to be between 2-6 per 100,000 persons per year. Connective tissue cancers, including sarcomas, GIST, aggressive fibromatosis and hamartomas affect children, adolescents and adults, constituting 2% of adult cancers and 15% of paediatric cancers. As with many rare diseases, the low number of cases per country per year hinders efforts to further the understanding of these cancers, as well as the development of treatments. CONTICANET is thus generating a critical mass of key stakeholders in order to rectify the obstacles caused by data fragmentation, researcher mobility, and the heterogeneity of both methodologies and legislation. The CONTICANET network includes some 250 researchers and physicians, making it one of the largest concentrations of “molecular research and clinical pharmacological transfer” in the world focusing on connective tissue cancers. The network seeks to harmonise efforts by promoting joint research activities, establishing standard operating procedures, and making available common databases and tissue banks. In order to improve the management of connective tissue cancers and facilitate new treatment development, CONTICANET is contributing to the following efforts:

  • enhanced knowledge of disease epidemiology
  • an assessment of current medical treatments
  • a standardisation of the molecular characterisation
  • identifying and validating new targets, screening agents and pharmacodynamic studies
  • pharmacovigilance, clinical pharmacology, and the study of host-tumour relations in the context of transfer research projects


  • A consortium of 20 different organisations – major cancer centres, academic institutions, and private enterprises – hailing from nine different European countries (Belgium, France, Germany, Ireland, Italy, the Netherlands, Spain, Slovenia and the UK) is creating the environment necessary to facilitate collaborative research efforts by developing standardised procedures that will help propagate excellence in the field. The consortium members contribute 70% of all European and 30% of all worldwide peer-reviewed relevant publications. Various members bring to the table a portfolio of more than 30 innovative agents at various stages of development and screening technologies unavailable outside the consortium. Each of the network’s partners is contributing its own particular expertise to the project:

    A team from Claude Bernard Lyon 1 University coordinates the network, chairs the scientific advisory board, and leads several initiatives, including the epidemiology, molecular epidemiology and medical practice evaluation joint research activities and the interaction with the advocacy groups for adults and children. CONTICANET’s overall project coordinator Jean-Yves Blay is professor of medicine at the Claude Bernard Lyon 1 University as well as chairman of the Soft Tissue and Bone Sarcoma Group of EORTC and an active member of the European Society of Medical Oncology. He has published over 210 peer-reviewed articles. Amongst other activities, the Claude Bernard Lyon University team also has research underway to identify mechanisms of action of imatinib and other TKI or GIST cells, cellular models of GIST, and aggressive fibromatosis and selected sarcoma subtypes, and to develop clinical research of innovative targeted agents in phase I and II trials in sarcomas and other tumour types. Read more

    Contact CONTICANET

     


     
    EU Policy News
     
    DG SANCO
     
    Public Health Executive Agency issues work programme and call for proposals
     
    As part of its Programme of Community Action in the field of Public Health (2008-2013), DG SANCO has launched a new Call for Proposals. Following the adoption of the Public Health Programme’s 2008 Work Plan in late February, the Public Health Executive Agency (PHEA) has published a Call for Proposals for projects, operating grants and conferences as well as invitations for joint actions in the field of public health. Point 3.3.1 of the 2008 Work Plan states that “Work in rare diseases will focus on continued action to improve knowledge and facilitate access to information on these diseases”, while work plan point 3.3.6. (Action on rare diseases) states that: High-quality diagnosis, treatment and information for people suffering from rare diseases are priority issues for the European Commission as established in the EU Health Strategy. Activities will support continued EU action in these diseases, and will focus in particular on the following areas:
  • Improving codification and classification of rare diseases in the context of the ICD-10 revision
  • Development and maintenance of rare diseases registers and information networks in certain areas
  • Scientific assistance to the Task Force on Rare diseases
  • The deadline for submissions is 23 May 2008.

     


     
    National & International Policy Developments
     
    Romanian health ministry signs accord to elaborate national plan for rare diseases
     
    On 29 February, the Romanian Ministry of Health and the country’s National Alliance for Rare Diseases signed an accord to form a partnership in order to instate a national plan for rare diseases. A member from the ministry and from the alliance have been appointed to work together to review the national plan that was developed by rare disease stakeholders and presented to the government at the end of 2007, with an eye to creating an estimate of funding and resources required for each element of the plan. An expert team, including geneticists, paediatricians, endocrinologists, cardiologists, oncologists, informatics specialists, public policy experts and other specialists will be gathered to help evaluate the plan and develop a cost analysis for each item. The country’s 2008 health budget will then be readjusted to include funding for various elements of the rare disease plan. A working document has been developed with a timeline for implementing specific elements of the plan, which seeks to improve access to information; establish an adequate strategy for ensuring prevention, diagnosis, treatment and rehabilitation services; create a national registry; stimulate research; create rare disease training initiatives for professionals from various fields; and collaborate with various EU and international organisations. An estimated one million rare disease patients live in Romania.
     


     
    Ethical, Legal & Social Issues
     
    Article considers ethical, legal and social concerns of expanded newborn screening using fragile X syndrome as a prototype
     
    A recent article in the medical journal Pediatrics considers concerns arising from the technological advances that will soon allow accurate, inexpensive newborn screening for conditions such as fragile X syndrome. Currently, a fragile X syndrome diagnosis is more often not made until a child is almost three years old, although families may become concerned about developmental lags by 12 months. While newborn screening would permit vital early intervention for conditions such as fragile X and also furnish useful information to parents considering further children, there are several ethical, legal and social issues that bear consideration. This article delineates eight broad concerns and discusses their implications: early identification of fragile X could negatively impact parent-child bonding and increase parental anxiety; informed consent could “overwhelm parents with information”, burden hospitals and reduce core screening participation; screening will identify children who are or appear to be phenotypically normal; screening may identify other, non-targeted conditions; genetic counselling and comprehensive care could become overwhelmed; screening could cause insurance or employment discrimination and induce a negative self-image in carriers; screening would suggest risk to extended family who have not consented to screening, creating ethical and legal issues as well as creating a communication burden for parents, or expanded responsibility for physicians; and fragile X screening could enhance differences between how men and women perceive genetic risk and make testing decisions. The authors offer several recommendations to address these issues, including the development of research networks and models to study the impact of newborn screening.
     


     
    Orphanet News
     
    New Texts
     
    New Orphanet Journal of Rare Diseases publications
     
    Idiopathic pulmonary fibrosis
     


     
    New Syndromes
     
    Anophthalmia, microphthalmia, retinal dystrophy and myopia – BMP4 is mutated
     
    The authors describe two families presenting anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies. Certain patients also present polydactyly. Using liaison analysis, the authors identified mutations in BMP4 gene, already implicated in eye development.
    Read the PubMed abstract

     
    Am J Hum Genet ; 304-319 ; February 2008
     


     
    New Genes
     
    Congenital renal agenesis: two genes controlling kidney formation are mutated
     
    Congenital renal agenesis is a rare developmental disorder. The authors identified mutations in RET gene in seven foetus presenting bilateral renal agenesis and two with unilateral agenesis. One foetus, carrying two RET mutations, also presents a mutation in the GDNF gene. These two genes are implicated in kidney development in animal models. The study confirms that these developmental disorders depend, at least in some cases, on genetic factors.
    Read the PubMed abstract

     
    Am J Hum Genet ; 344-351 ; February 2008
     
    Hypothalamic hamartoma: loss of GLI3 heterozygosity
     
    Hypothalamic hamartomas are benign congenital tumours associated with intractable epilepsy. The authors have identified somatic chromosomal anomalies responsible for a loss of heterozygosity in gene GLI3. Germinal mutations of this gene has previously been identified in patients with Pallister-Hall syndrome, a dysmorphic syndrome associated with hypothalamic harmartomas. GLI3 encodes a transcription factor of the sonic hedgehog pathway, but the mechanism linking this pathway to the harmatomas remains unknown.
    Read the PubMed abstract

     
    Am J Hum Genet ; 366-734 ; February 2008
     
    Multiple pterygium syndrome: two sub-units of an acetylcholine receptor are mutated
     
    Multiple pterygium syndrome is characterised by intra-uterine growth retardation, the multiple pterygium provoking arthrogryposis and foetal akinesia. In this study, the authors identified mutations in CHRNA1 and CHRND genes, encoding respectively alpha 1 and delta sub units of the acetylcholine receptor. The results of this study seem to confirm that a total function loss of this receptor is responsible for lethal forms of multiple pterygium, while partial function loss leads to foetal hypokinesia or myasthenic syndrome later in life.
    Read the PubMed abstract

     
    Am J Hum Genet ; 464-476 ; February 2008
     
    Amelogenesis imperfecta: FAM83H is mutated
     
    The authors describe two families with autosomal dominant amelogenesis imperfecta characterised by hypocalcification of the dental enamel. They identified two nonsense mutations in gene FAM83H. The function of this gene is not yet known.
    Read the PubMed abstract

     
    Am J Hum Genet ; 489-494 ; February 2008
     
    Dyskeratosis congenita and Revesz syndrome have mutated telomeres
     
    Some 40% of patients with dyskeratosis congenita, a syndrome characterised by bone marrow failure and very short telomeres, present mutations in genes DKC1, TERC, TERT, or NOP1O. The authors have identified mutations in a new gene, TINF2, in a family with dyskeratosis congenita and in a patient with Revesz syndrome, characterised by bone marrow insufficiency and retinopathy. As with DKC1, TERC, and TERT, this new gene is implicated in telomere structuring.
    Read the PubMed abstract

     
    Am J Hum Genet ; 501-509 ; February 2008
     
    Hereditary spastic paraplegia: a deficit in the cholesterol degradation pathway
     
    Hereditary spastic paraplegias are a genetically and clinically heterogeneous group of upper motor neuron degenerative diseases. The authors have identified mutations in gene CYP7B1 (SPG5 locus), in patients with a pure form of paraplegia. This gene encodes cytochrome P450-7B1, implicated in cholesterol degradation.
    Read the PubMed abstract

     
    Am J Hum Genet ; 510-515 ; February 2008
     
    Congenital hypothyroidism: DUOXA2 may be mutated
     
    Congenital hypothyroidism may be caused by mutations in gene DUOX2 (dual oxydase 2) encoding an enzyme implicated in thyroid hormone synthesis. The authors have now identified a homozygous mutation in DUOX2A, encoding a maturation factor of this enzyme.
    Read the PubMed abstract

     
    J Clin Endocrinol Metab ; 605-610 ; February 2008
     
    Fuchs endothelial corneal dystrophy: a borate transporter is mutated in hereditary forms
     
    Fuchs endothelial corneal dystrophy is a degenerative disease of the cornea. Autosomal dominant forms have been observed. The authors have identified mutations in gene SLC4AII in hereditary forms. Encoding a borate transporter, this gene is also mutated in patients with congenital hereditary endothelial cornea dystrophy type 2 (CHED2). Moreover, these results provide information on the possible role of borate in the animal cellular physiology, where the function of this ion is still little understood.
    Read the PubMed abstract

     
    Hum Mol Genetics ; 656-666 ; March 2008
     
    Central precocious puberty: a mutation in GPR54 receptor disturbs gonadotropin secretion
     
    Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis before eight years of age in girls and nine and a half in boys. The authors identified an autosomal dominant mutation in the gene encoding a G protein coupled receptor, GPR54, in an adopted girl. This receptor and its ligand, kisspeptin, belong to the neuroregulator system for the secretion of gonadotropin releasing hormone.
    Read the PubMed abstract

     
    NEJM ; 709-715 ; February 2008
     


     
    Research in Action
     
    Fundamental Research
     
    Spondylocarpotarsal synostosis syndrome : vertebral segmentation maintenance protein is implicated
     
    Spondylocarpotarsal synostosis syndrome is a rare disease characterised by short stature and fusions of the vertebrae and carpal and tarsal bones. In disease mouse models, the authors demonstrated that vertebral fusion is progressive. The disease is thus not due to an error in spinal segmentation but rather in the maintenance of intervertebral, carpal and sternal joints. In mice, the joint fusion process begins antenatally.
    Read the PubMed abstract

     
    Hum Mol Genetics ; 631-641 ; March 2008
     
    Spinal muscular atrophy: pH variation affects SMN protein level
     
    Spinal muscular atrophy is a neuromuscular disorder caused by homozygous mutations in gene SMN1. A therapeutic approach consists on restoring SMN protein by increasing expression of full length SMN2 protein, a SMN1 homologue, by augmenting the inclusion of exon 7 in its mRNA. The authors treated SMA lymphoid cell lines with Na+/H+ exchanger inhibitors and then measured SMN2 exon 7 splicing by reverse transcriptase polymerase chain reaction and SMN protein production by Western blotting and immunofluorescence. They found that treatment with an Na+/H+ exchanger inhibitor significantly enhanced SMN2 exon 7 inclusion and SMN protein production in SMA cells, providing a new direction for the development of drugs for SMA treatment.
    Read the PubMed abstract

     
    Ann Neurol ; 26-34 ; January 2008
     
    Fanconi anemia: Aberrant activation of stress-response pathways leads to TNF-alpha oversecretion
     
    Fanconi anemia, an inherited syndrome that associates bone marrow failure, cancer predisposition, and genetic instability, is characterised by an overproduction of the myelosuppressive cytokine TNF-alpha through unknown mechanisms. The authors demonstrate here that FANC genes loss-of-function results in the aberrant activation of 2 major stress-signalling pathways: NF-kappaB and MAPKs. These data provide a possible new therapeutic strategy.
    Read the PubMed abstract

     
    Blood ; 1913-1923 ; February 2008
     
    Clinical Research
     
    Menkes disease: Early diagnosis improves patient survival
     
    Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may prevent death and illness, but presymptomatic detection is hindered by the inadequate sensitivity and specificity of diagnostic tests. Exploiting the deficiency of a copper sensitive enzyme, dopamine-beta-hydroxylase, the authors prospectively evaluated the diagnostic usefulness of plasma neurochemical levels, assessed the clinical effect of early detection, and investigated the molecular bases for treatment outcomes in 81 infants at risk. In 12 newborns who met the eligibility criteria and began copper-replacement therapy within 22 days after birth, survival and neurodevelopment longitudinally were tracked for 1.5 to 8 years. Survival at a median follow-up of 4.6 years was 92%, as compared with 13% at a median follow-up of 1.8 years for a historical control group of 15 late-diagnosis and late-treatment patients. Neonatal diagnosis of Menkes disease by plasma neurochemical measurements and early treatment with copper may thus improve clinical outcomes.
    Read the PubMed abstract

     
    NEJM ; 605-614 ; February 2008
     
    Hutchinson-Gilford progeria syndrome: new data on phenotype and disease course
     
    Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years due to myocardial infarction or stroke. The authors enrolled 15 children between 1 and 17 years of age, representing nearly half of the world's known patients with Hutchinson-Gilford progeria syndrome, in a comprehensive clinical protocol. Investigations confirmed sclerotic skin, joint contractures, bone abnormalities, alopecia, and growth impairment in all 15 patients; cardiovascular and central nervous system sequelae were also documented. Previously unrecognised findings included prolonged prothrombin times, elevated platelet counts and serum phosphorus levels, measured reductions in joint range of motion, low-frequency conductive hearing loss, and functional oral deficits.
    Read the PubMed abstract

     
    NEJM ; 592-604 ; February 2008
     
    Cushing disease: 25% of patients relapse after initial successful transsphenoidal surgery
     
    Cushing disease is characterised by chronic hypercortisolism of either endogenous (excess production of cortisol by the adrenal glands) or exogenous (iatrogenic) origin. This study examined remission and recurrence rates in 205 patients who underwent transsphenoidal surgery. A quarter of the patients with Cushing disease who achieve remission after transsphenoidal surgery recur with long-term follow-up. This finding emphasizes the need for continued biochemical and clinical follow-up to ensure remission after surgery.
    Read the PubMed abstract

     
    J Clin Endocrinol Metab ; 358-362 ; February 2008
     
    Chronic idiopathic myelofibrosis: a new prognostic model
     
    Chronic idiopathic myelofibrosis may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, and portal hypertension. Various clinical prognostic scoring systems have been suggested as means of selecting high-risk chronic idiopathic myelofibrosis patients at diagnosis. The WHO has recently proposed strict diagnostic criteria, and the European consensus for bone marrow fibrosis (BMF) grading recommends 4 classes. The authors tested a prognostic model for overall survival (OS) based on the WHO criteria and BMF grading in 113 consecutive patients with chronic myeloproliferative disorders. The results showed that this model is significantly associated with different OSs and clearly discriminates the OS of intermediate- and high-risk patients.
    Read the PubMed abstract

     
    Blood ; 1862-1865 ; February 2008
     
    Fragile X syndrome: neuroanatomic variations linked to aberrant behaviour and cognition
     
    Clinical features for fragile X syndrome include mental retardation, subtle dysmorphism, behavioural abnormalities and macroorchidism in postpubertal males. The authors studied brain morphology, intelligence quotient, and abnormal behaviours (measured with the Autism Behavior Checklist and the Aberrant Behavior Checklist) in 84 children and adolescents with the fragile X full mutation. Large caudate and small posterior cerebellar vermis were associated with lower fragile X mental retardation protein levels and more pronounced cognitive deficits and aberrant behaviours.
    Read the PubMed abstract

     
    Ann Neurol ; 40-51 ; January 2008
     
    Therapeutic Approaches
     
    Treacher Collins syndrome: inhibition of p53 rescues craniofacial abnormalities in mouse models
     
    Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which encodes the nucleolar phosphoprotein Treacle. In mice, haploinsufficiency of Tcof1 perturbs mature ribosome biogenesis, resulting in stabilization of p53 and the cyclin G1-mediated cell-cycle arrest that underpins the specificity of neuroepithelial apoptosis and neural crest cell hypoplasia characteristic of TCS. The authors show that inhibition of p53 prevents cyclin G1-driven apoptotic elimination of neural crest cells while rescuing the craniofacial abnormalities associated with mutations in Tcof1 and extending life span. Suppression of p53 function provides an avenue for possible clinical prevention of TCS craniofacial birth defects and possibly those of other neurocristopathies.
    Read the PubMed abstract

     
    Nature Medicine ; 125-133 ; February 2008
     
    Diagnostic Approaches
     
    Congenital central hypothyroidism: thyrotropin-releasing hormone stimulation test improves diagnosis in infants
     
    A shortage of thyroid hormone during prenatal life and the first years after birth results in a spectrum of neuropsychological disorders, depending on the duration and severity of the deficiency. In the case of congenital hypothyroidism of central origin, the majority of patients also have multiple pituitary hormone deficiencies. This condition poses an additional threat to postnatal central nervous system development, primarily on account of neuroglycopenia due to ACTH/cortisol deficiency with or without additional GH deficiency. The authors evaluated the usefulness of the thyrotropin-releasing hormone stimulation test, finding that it has a pivotal role in the diagnosis of TSH deficiency in young infants.
    Read the PubMed abstract

     
    J Clin Endocrinol Metab ; 410-419 ; February 2008
     


     
    Patient Management and Therapy
     
    Paroxysmal nocturnal hemoglobinuria: effects of complement inhibitor eculizumab confirmed in larger population
     
    Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of the bone marrow characterised by the lack (total or partial) of all proteins normally attached to the cell membrane by the glycosylphosphatidylinositol (GPI) anchor. The variable clinical manifestations are intravascular hemolytic anaemia, venous thrombosis (particularly within the abdomen), and cytopenia due to deficient bone marrow production of blood cells. The terminal complement inhibitor eculizumab was recently shown to be effective and well tolerated in patients with paroxysmal nocturnal hemoglobinuria. Here, the authors extended these observations to a Phase 3 clinical trial involving 97 patients over 54 months. Patients treated with eculizumab responded with an 87% reduction in hemolysis. The increase in hemoglobin level occurred despite a reduction in transfusion requirements. Overall, transfusions were reduced 52%.
    Read the PubMed abstract

     
    Blood ; 1840-1847 ; February 2008
     
    Addison disease: Long-term DHEA replacement has limited effect
     
    Addison disease is characterised by glucocorticoid and mineralocorticoid deficiencies that require lifelong replacement, but the associated near-total failure of DHEA synthesis is not typically corrected. In a double-blind trial, the authors randomised 106 Addison disease subjects to receive either 50 mg daily of micronized DHEA or placebo orally for 12 months to evaluate its longer-term effects on bone mineral density, body composition, and cognitive function together with well-being and fatigue. While DHEA reversed ongoing loss of bone mineral density at the femoral neck, there was no significant benefit of DHEA treatment on fatigue or cognitive or sexual function.
    Read the PubMed abstract

     
    J Clin Endocrinol Metab ; 400-409 ; February 2008
     
    Acute graft-versus-host disease: etanercept plus methylprednisolone proves effective as initial therapy
     
    Graft-versus-host disease is a principal cause of morbidity following allogeneic hematopoietic cell transplantation. Standard therapy, high-dose steroids, results in complete responses in 35% of patients. The authors treated patients with new-onset graft-versus-host disease with steroids plus the TNFalpha inhibitor etanercept. Patients treated with etanercept were more likely to achieve complete responses than were patients treated with steroids alone (69% vs 33%).
    Read the PubMed abstract

     
    Blood ; 2470-2475 ; February 2008
     


     
    Orphan Drugs
     
    Six EMEA orphan drug designations for March
     

    The COMP (Committee for Orphan Medicinal Products) adopted the following six positive opinions on orphan medicinal product designation at its March meeting for the treatment of:

    - erythropoietic protoporphyria
    - congenital erythropoietic porphyria
    - congenital muscular dystrophy with collagen VI deficiency
    - congenital muscular dystrophy with merosin (laminin alpha 2) deficiency
    - acute myeloid leukaemia
    - amyotrophic lateral sclerosis
    Consult the European Registry for Orphan designations
    Consult the Orphanet list of orphan drugs authorised for marketing in Europe

     
    CHMP issues positive opinion for ambrisentan in the treatment of pulmonary arterial hypertension
     
    The Committee for Medicinal Products for Human Use (CHMP) has recommended marketing authorisation for Volibris (ambrisentan), from Glaxo Group Limited, for the treatment of pulmonary arterial hypertension. Volibris is the 46th orphan medicine to receive a positive opinion. EMEA review began on 21 March 2007 with an active review time of 205 days.
     
    FDA grants license for genetically engineered haemophilia A treatment
     
    The US Food and Drug Administration has licensed a treatment for haemophilia A, a rare, hereditary blood-clotting disorder that affects approximately 15,000 individuals, almost exclusively males, in the United States. The new treatment, Xyntha Antihemophilic Factor (Recombinant) Plasma/Albumin Free, is a genetically engineered version of factor VIII, a protein essential for the clotting of blood. Factor VIII is missing or decreased in patients with haemophilia A. Xyntha is manufactured by Wyeth Pharmaceuticals Inc.
     


     
    Partnersearch, Job Opportunities
     
    WAGR syndrome research study seeks participants
     
    A United States National Institutes of Health (NIH) study is seeking child and adult patient participation. WAGR is an acronym for Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation syndrome. The prevalence of WAGR syndrome is less than 1 in 100,000 births. Participation in the research study involves sending blood samples and medical records to the NIH investigators, who are seeking to learn more about how the genes involved in WAGR syndrome affect patients.
    For more information

     


     
    News from the Patients' Associations
     
    New global online community for Duchenne patients and their families
     
    The United Parent Projects for Muscular Dystrophy has launched an online community for Duchenne patients and their families. This new service will permit contact between Duchenne families around the world. The new website allows patients and families to create their own blogs, events and activity calendars and post information on research, treatment and care. The Duchenne Community website is open to all nationalities and languages and members are encouraged to write in their native tongue. A recent visit to the website found members from diverse locations as Romania, South Africa and Argentina – all linked together to find common solutions for living with Duchenne muscular dystrophy – a rare degenerative disease affecting one in 3300 boys.
     


     
    Courses & Educational Initiatives
     
    3rd Goldrain Course in Clinical Cytogenetics
     
    Venue: South Tyrol, Italy
    Date: 31 August - 4 September 2008

    This course is focused on phenotypic findings, mechanisms of origin and transmission, and correlations of clinical patterns with the chromosomal imbalance. Special attention is paid to an understanding how deletions and/or duplications of chromosomal segments cause developmental defects. The course also addresses the optimal application of the diagnostic possibilities including molecular cytogenetic methods for a precise determination of segmental aneuploidy.
    For further information

     


     
    What's on Where?
     
    Fifth International Congress on FMF and Systemic Autoinflammatory Diseases
     
    Date: 4-8 April 2008
    Venue: Rome, Italy

    This conference will review current knowledge of the mechanisms of innate immunity and their relevance to the pathogenesis of autoinflammatory and other chronic diseases.
    For further details

     
    19th Conference of the German Society of Human Genetics
     
    Date: 8-10 April 2008
    Venue: Hannover, Germany

    This year the main focus will be on the following subjects: Genetic origins of pain intensity, connective tissue disorders and complex infectious diseases; New therapeutic approaches to genetic diseases; The role of miRNAs and epigenetic modification; Proteomics; The structure of human genetic health care services in Europe.
    For further details

     
    International Ataxia-Telangiectasia Workshop 2008
     
    Date: 22-26 April 2008
    Venue: Kyoto, Japan

    Topics include the roles of ATM and its related proteins in the DNA damage responses and in the tumorigenesis. The biological roles of ATM in the development of immune system, nervous system, and the stem cell systems are another essential area towards new therapies for A-T.
    For further details

     
    Second International Workshop on Minicircle-DNA
     
    Date: 7-9 May 2008
    Venue: Bielefeld, Germany

    Following on the success of the 2007 conference, and focusing on technology and IP and application. The workshop is supported by CLINIGENE, the European Network of Excellence for the advancement of clinical gene transfer and therapy. CLINIGENE is offering 10 grants (500 Euros) for trainees or post-docs attending this meeting. Please contact CLINIGENE for further information.
    For further details

     
    First International Meeting of Moebius Syndrome
     
    Date: 16-17 May 2008
    Venue: Valencia, Spain

    Held in English and Spanish, the conference will focus on cranial nerves and brain stem; Moebius syndrome or sequence; natural history of Moebius syndrome; rare diseases and Moebius syndrome; ophthalmological problems; deglutition problems; oral health in Moebius; speech-language therapy; club feet in Moebius; Poland anomaly in Moebius syndrome; genetics of Moebius syndrome; psychological support; facial surgery (Zuker’s facial animation surgery); and living with Moebius syndrome: personal experiences of affected people.
    For further details

     
    ICORD 4th International Conference on Rare Diseases and Orphan Drugs
     
    Date: 20-22 May 2008
    Venue: Washington, DC US
    For further details

     
    13th International Conference for Behçet's Disease and 5th Patients' Convention
     
    Date: 24-27 May 2008
    Venue: Klagenfurt, Austria

    With presentations and discussions on oral, eye, genital and skin involvement, as well as paediatric patients, drug trials and future perspectives.
    For further details

     
    Myology 2008: Treatments – The Turning Point
     
    Date: 29 May - 1 June 2008
    Venue: Marseilles, France

    Focusing on the development of therapies and the setting up of trials on humans for rare diseases in the field of myology.
    For further details

     
    First Conference on Translational Research in Paediatric Rheumatology
     
    Date: 29 May - 1 June 2008
    Venue: Genoa, Italy

    Using the field of rare paediatric rheumatic disorders as a paradigm, Anticipating Changes in Drug Development for Children: Building on Paediatric Rheumatology will examine the medicine research and development process, from pre-clinical and early-phase clinical development, to biomarker validation, study design and management, data analysis, ethical review, regulatory submission and research governance. The conference is meant to further stimulate interaction among the three major stakeholders in the drug development process, namely, academia, industry and regulatory authorities.
    For further details

     
    5th International Congress of Rehabilitation in the Field of Neuromuscular Disorders
     
    Date: 30 May – 1 June 2008
    Venue: Marseilles, France

    With sessions on gene-based therapies, patient evaluation, pain and fatigue management, and treatment options.
    For further details

     
    EuroGentest Genetic Testing Accreditation and Quality Assurance Programmes
     
    Date: 30-31 May 2008
    Venue: Barcelona, Spain

    EuroGentest presents two workshops and a round table session on the topics of accreditation in genetic testing labs, quality assurance and managing the human side of change.
    For further details

     
    International Down Syndrome Screening Group 8th International Congress
     
    Date: 31 May- 1 June 2008
    Venue: Vancouver, Canada

    Held in conjunction with the International Society for Prenatal Diagnosis conference, taking place immediately afterward.
    For further details

     
    40th European Human Genetics Conference
     
    Date: 31 May-3 June 2008
    Venue: Barcelona, Spain

    In conjunction with the European Meeting on Psychosocial Aspects of Genetics 2008. Progamme will cover the latest developments in the field of human genetics that are of interest both for clinicians and research scientists.
    For further details

     
    14th International Conference on Prenatal Diagnosis and Therapy
     
    Date: 1-4 June 2008
    Venue: Vancouver, Canada

    Conference sessions will include foetal imaging, cytogenetics, foetal DNA/RNA, PGD, screening, teratology, and legal aspects of prenatal diagnostics and therapy.
    For further details

     
    5th International Cystinosis Conference
     
    Date: 27-28 June 2008
    Venue: Dublin, Ireland

    World experts in the field of Cystinosis will attend and the latest research in this very rare disease will be presented. The event is unique as it combines a high-level scientific and medical conference as well as being a family and patient friendly conference. Deadline for abstracts: 11 April 2008.
    For further details

     
    Fourth International Neuroacanthocytosis Symposium: Bridging Clinical and Basic Aspects
     
    Date: 1-2 July 2008
    Venue: Oxford and London, England

    Including clinical aspects of chorea acanthocytosis and McLeod syndrome, muscle and nerve neuropathology and syndromes related to NA.
    For further details

     
    15th Retina International World Congress
     
    Date: 4-5 July 2008
    Venue: Helsinki, Finland

    Clinical diagnostics of retinal dystrophies, genetic diagnostics and research, Usher syndrome, ongoing clinical trials. Deadline for abstract submission is 30 April, 2008.
    For further details

     
    Genetic Alliance Annual Conference 2008
     
    Date: 11-13 July 2008
    Venue: Bethesda, MD, US

    Brings advocates, health professionals, policy makers, industry representatives, researchers, and community leaders together for workshops and discussions.
    For further details

     
    Fourth International Conference on Metals and Genetics
     
    Date: 21-24 July 2008
    Venue: Paris, France

    The main topics will include metal-associated diseases: molecular and systemic biology approaches; characterisation and speciation of metal in proteins and biological tissues; and metals and environmental health implications.
    For further details

     
    Barth Syndrome: On Track Toward a Cure - 4th International Conference
     
    Date: 21-26 July 2008
    Venue: Florida, USA

    This conference will be dedicated to increasing knowledge and accelerating advances in research for this rare metabolic genetic disorder. It will bring together basic scientists, clinical researchers, treating physicians, other professionals, and affected individuals and families to focus on the syndrome through a series of carefully organised sessions.
    For further details

     
    15th Paediatric Rheumatology European Society Congress
     
    Date: 14-17 September 2008
    Venue: University College London, UK

    The programme will cover four main topics through keynote lectures, abstract presentations and educational workshops: juvenile arthritis, juvenile dermatomyositis, vasculitis and pain. There will be novel symposia such as sport and exercise in young people.
    For further details

     
    6th World Rett Syndrome Congress
     
    Date: 10-13 October 2008
    Venue: Paris, France

    Various aspects of Rett syndrome and MECP2 functioning, including fundamental, clinical and management topics.
    For further details

     
    Tenth International Meeting on Osteogenesis Imperfecta
     
    Date: 15-18 October 2008
    Venue: Ghent, Belgium

    Topics include: Bone homeostasis, murine models/collagen biology/biophysics, classification, genetics: genotype-phenotype, prenatal diagnosis/preimplantation diagnosis, biphosphonates, orthopedic management, hearing loss: physiopathology, surgery and imaging, other medical management issues, stomatology/dentistry, psychosocial aspects, new (therapeutic) perspectives.
    For further details

     
    EPPOSI Workshop 2008
     
    Date: 16-17 October 2008
    Venue: Paris, France

    Mark your calendars for the 2008 EPPOSI workshop, taking place at the National Assembly in Paris. The theme of the workshop is Orphan drugs: partnering along the chain and across the borders - Sharing strategies and tools for access to diagnosis and treatment.
    For further details

     


     
    Press & Publications
     
    An impressive catalogue of innovative therapy projects
     
    New therapies research, including gene and cell therapy, immunotherapy, tissue engineering and regenerative medicine, are offering hope for many rare diseases that have previously been without cure. A new publication, entitled Genomics and Biotechnology for Health – New Therapies, is a catalogue of the research activities funded under the EU’s Sixth Framework Programme (2002-2006). This compilation features a portrait of the new therapy research projects funded under FP6 –some of which are dedicated exclusively to rare diseases, such as Skintherapy for epidermolysis bullosa or Stem-HD for Huntington disease. The publication is available online at the European Commission’s Community Research and Development Information Service for Science, Research and Development (CORDIS).
     
    A survey of rare conditions in children from the land down under
     
    A review article appearing in the Journal of Paediatrics and Child Health reports on the impact of gathering data for rare childhood conditions. Conducted by the Australian Paediatric Surveillance Unit (APSU) over the last 14 years, the surveillance of over 40 conditions provides information on epidemiology, frequency, diagnosis, management and short-term outcomes, furnishing evidence useful to prevention policies, resource allocation and clinical practice. RETT syndrome and CHARGE association are amongst the disorders included in the surveillance, which provides the first estimates of incidence for these genetic disorders and has also served to identify cohorts that have permitted molecular and clinical characterisation of children. The method employed - a monthly report card that clinicians complete and return - is ideally suited to rare condition surveillance.
     


     
    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    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
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    Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Manuel Posada de la Paz, Ewa Pronicka, Claire Scharf-Kroener, Janos Sandor, Domenica Taruscio, Paloma Tejada, T.O.F. Wagner
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