23 December 2009 print
Task Force Update
EU Policy News
Nat Pol News
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New Syndromes
New Genes
Research in Action
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A life-saving present: Rare disease emergency care guidelines available in six European languages on the Orphanet website

As was reported in the 30 January 2008 issue of OrphaNews Europe, Alexion Europe, a subsidiary of Alexion Pharmaceuticals, is providing funding for the translation of Orphanet rare disease emergency guidelines (originally prepared in French) into five other languages (English, German, Italian, Portuguese and Spanish). Rare disease patients in a health emergency situation - whether or not the situation is directly related to their illness - may encounter emergency room professionals unfamiliar with their particular disorder and unsure of how to administer emergency services appropriately and safely. In response to this, Orphanet started creating rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. Guidelines for almost 20 rare diseases are already available in French, created through funding from the first French National Plan for Rare Diseases.

Now, the first guidelines in other European languages have been prepared and are either available or being finalised. Emergency care professionals will be able to consult in six European languages information concerning the nature and progression of a particular rare disease, possible emergency scenarios that can occur with the condition, medicinal products typically prescribed and their possible interactions with other products, as well as emergency procedure recommendations, including how to evaluate the severity of the emergency condition, possible immediate therapeutic measures to take, anaesthesia administration considerations, website links and references for the diseases osteogenesis imperfecta, Marfan syndrome, Dravet syndrome, paroxysmal nocturnal haemoglobinuria, nonhistamine-induced angioedema, tuberous sclerosis, amyotrophic lateral sclerosis, acute hepatic porphyria, and porphyria cutanea tarda. These first emergency guidelines were prioritised from the over 5000 diseases in the Orphanet database following an investigation into the needs and experience of emergency room professionals. Orphanet plans to create some 30 rare disease emergency care guidelines per year and is grateful to Alexion Europe for its collaboration on the translation of the first set, which were validated in painstaking detail by the Orphanet country teams. The emergency guidelines are available from the Orphanet homepage for each language.

Task Force Update


EU Policy News
EMEA moves to DG Sanco under new EU Commission line up;
Malta’s John Dalli named new health commissioner


Late last month European Commission President José Manuel Barroso announced the new team of commissioners for the next five-year mandate of the Commission. John Dalli, from Malta, was named as the new EU health commissioner as Androulla Vassiliou moves to the Education, Culture, Multilingualism and Youth portfolio. The reconfiguration of several portfolios was also unveiled - including that of the Directorate General for Health and Consumers (DG Sanco), which will expand to take responsibility for pharmaceuticals under its wing – including the European Medicines Agency (EMEA). While members of industry are disappointed by the change, health lobby groups point out that in almost every Member State, policy for medicinal products is the responsibility of the country’s health department, and thus expect that the switch will yield a more “consistent and coherent” approach to public health policy. Besides taking responsibility for the EMEA, DG Sanco also takes on the biotechnology, pesticides and health unit, which moves from the Commission’s environment section. Prior to taking office for a term that will run through 31 October 2014, the new Commission must gain approval from the European Parliament. The Commissioners-designate are scheduled to appear in individual hearings before Parliamentary committees between 11-19 January 2010 and the vote of consent on the new Commission as a whole is expected to take place on 26 January. Following the basis of the vote of consent, the Commission shall then be appointed by the European Council.


National & International Policy Developments
New Innovation Pass would accelerate access to treatment for rare disorders in the UK
The United Kingdom’s National Institute for Health and Clinical Excellence (NICE) has launched a consultation process for a new scheme that would permit patients with rare or uncommon disorders to access innovative treatments that have not yet been subject to appraisal by NICE. The NICE “Innovation Pass” will make selected innovative medicines available on the National Health Service “for a time-limited period” prior to receiving a NICE appraisal. Funding “will be drawn from a new ring-fenced £25 million” (€27.6 million) budget. The Innovative Pass allows patients earlier access to innovative medicinal products while simultaneously facilitating the gathering of further evidence to “support a subsequent NICE appraisal”. The consultation, open until 8 February 2010, seeks views from the NHS, industry and other stakeholders. In a news article appearing on the Nursing Times website, NICE chief executive Andrew Dillon is quoted as saying, “We recognise that for a small number of very promising new treatments, the evidence available may not reveal their full potential benefits for patients…Where there is a high risk that a NICE appraisal of a new treatment at the point of its first use in the NHS might underestimate its benefits, providing the opportunity to gather more evidence and making the treatment available before undertaking an appraisal is the right thing to do.”
German rare disease conference concentrates on elements that will form the foundation of a national RD plan

The German Alliance of Rare Diseases (ACHSE) organised a conference in Bonn in late October, gathering representatives from patient organisations, the health ministry, physicians and researchers to discuss the elements that characterise “good” information as well as how this influences the process of determining a diagnosis, and what can be improved for both issues. A presentation on patient registries and the importance of epidemiology delivered by Professor Thomas Wagner demonstrated vividly the necessity for agreement on common standards. Professor Manfred Stuhrmann-Spangenberg (country coordinator for Orphanet Germany) showed the importance of a codification system for rare diseases, and the development of the ICD-11 by the World Health Organisation, in collaboration with Orphanet. Other presentations from Dr. Sylvia Sänger, Lisa Biehl, Dr. Christine Mundlos and Prof. Stefan Mundlos discussed different aspects of the process of identifying and improving reliable information as well as determining a correct diagnosis comparatively quickly. Dr. Andreas Reimann summarised the conclusions of a study performed as an assignment for the Ministry of Health: “Measures for improvement of the health situation for people living with a rare disease”. Generally, patients, researchers and clinicians agreed that people living with a rare disease need specialised care, which the German health care system could provide. However, many improvements need to be implemented to achieve the standard of care necessary and to facilitate a fruitful exchange with other health care providers in Europe. ACHSE is calling for a National Plan for Rare Diseases in Germany. Two position papers on “Improving Information” and “Shortening the Route to Diagnosis” were discussed. Upon acceptance by the general assembly, these papers, together with another position paper on patient-oriented care, will serve as the foundation for measures that the ACHSE will put forward for inclusion in Germany’s national plan for rare diseases, which is beginning an elaboration process.

Rare Diseases Strategy of the Spanish National Health System now available in English language
As was reported in the 28 October 2009 issue of OrphaNews Europe, Spain officially launched its rare disease strategy on 20 October of this year. The Spanish plan is essentially a coordination tool based upon seven strategic lines that will encompass the domains of information; prevention and early detection; healthcare coordination; treatment (including advanced medicinal products, orphan drugs, and related materials); social services; research; and training. The elements defined in the Spanish strategy follow the recommendations delineated by the European Council Recommendation on an Action in the Field of Rare Diseases. The Spanish strategy is now available on the European Commission’s DG Health and Consumer Protection website in English (as well as in Spanish).
European Haemophilia Consortium calls for more patient empowerment and mobility of expertise

The European Haemophilia Consortium (EHC), representing national member organisations from 43 countries across Europe, held two Round Table sessions this autumn, both of which seek to improve conditions for patients with haemophilia across Europe.

The seventh European Haemophilia Consortium Round Table meeting convened in early October to determine an “optimum level of information” to dispense to patients. The meeting culminated in a call from participants for:

Empowerment of patients and their proactive involvement in the decision making process at the earliest stage; Developing health literacy skills of patients in order to ensure that all European patients can access the information they need, whenever required and in a friendly-user format; Shared responsibility between all stakeholders in delivering timely, understandable and quality information from a variety of sources; Comprehensive European guidelines with clear quality criteria on providing information to patients; and a trustful dialogue between health professionals and patients, which will facilitate the development of informed and engaged patients.

The eighth Round Table meeting held earlier this month discussed the European Council’s recent failure to reach a consensus amongst the Member States on the Directive on Patients Rights in Cross-border Healthcare. While awaiting resolution on this issue, the need for common patient safety standards and adequate access to treatment across Europe and in all Member States was evoked, along with comprehensive haemophilia care that should travel - rather than the patients "who need to be correctly diagnosed and feel secure in terms of the treatment, entering the hospital in their own country”. A call was made for:
  • Enhanced “knowledge” mobility and use of new technologies to fill information gaps and thus reduce disparities of care across Europe
  • United European standards to secure patient safety in cross-border and home healthcare
  • Implementation of a concept of a comprehensive haemophilia care in each European country
  • A trustful dialogue between experts and data sharing to increase cooperation between already existing Centers of Expertise in the field of Haemophilia
  • .
    These elements as defined could be applied to many rare diseases in order to harmonise and improve patient care throughout Europe.

    Other International News
    First human embryonic stem cell lines gain approval for research in the USA under new guidelines

    In a reversal of policy ushered in by the administration of President Barack H. Obama, the USA National Institutes of Health earlier this month approved 13 human embryonic stem cell lines for use in NIH-funded research under the NIH Guidelines for Human Stem Cell Research adopted in July 2009. According to a press release, an additional 96 lines have been submitted for review. President Obama issued Executive Order 13505: Removing Barriers to Responsible Scientific Research Involving Human Stem Cells in March of this year. The executive order states that the Secretary of Health and Human Services, through the Director of NIH, may “support and conduct responsible, scientifically worthy human stem cell research, including human embryonic stem cell research.” In the press release, NIH Director Francis S. Collins states that "In accordance with the guidelines, these stem cell lines were derived from embryos that were donated under ethically sound informed consent processes. More lines are under review now, and we anticipate continuing to expand this list of responsibly derived lines eligible for NIH funding." Eleven of the approved line were developed by Children’s Hospital Boston and two others by Rockefeller University (New York City). Experts consider embryonic stem cell therapy promising for many rare disorders that currently have no therapeutic options.


    EU Project Follow-up
    COGAIN’s eye-assisted technology opens the door to communication - and fun - for patients with motor and language impairment

    COGAIN (Communication by Gaze Interaction), a Network of Excellence supported by the e-Inclusion strategic objective of the Information Society Technologies (IST) thematic area of the Sixth Framework Progamme, has during its five-year period of funding developed applications that open the door to patients previously unable to communicate. COGAIN’s assistive technologies allow users with severe motor disabilities – including rare disorders such as locked-in syndrome, motor neurone diseases, spinal muscular atrophy, or Rett syndrome – to communicate by using eye-movement driven computer writing applications - as well as to enjoy games and activities via gaze-tracking software applications.

    COGAIN technology empowers users to communicate by “using the capabilities they have and by offering compensation for capabilities that are deteriorating”. Amongst COGAIN’s developments are programmes such as Dasher and Eye Gaze that allow users to create text via eye typing.

    COGAIN also offers free examplar grids that allow users to develop the skills necessary to communicate by eye movement and to then personalise applications according to their needs. In addition, several entertainment applications have been developed and are also freely available for download. These include EyeArt, a gaze-controlled drawing programme, GazeTrain, a gaze-controlled, action-oriented puzzle game, Music Editor, a gaze-controlled music editor for playing and composing music, Road to Santiago, a gaze-controlled adventure game, and Snap Clutch, a tool to generate key and mouse events for playing games such as World of Warcraft and Second Life. COGAIN’s gaming-with-gaze software lets players control an avatar by working in conjunction with eye tracker technology that employs cameras to measure the direction of the user’s gaze. Eye movement patterns activate movements or commands on the screen. The COGAIN products function either by eye trackers – which are generally expensive, although low-cost devices developed by the network are available on the COGAIN website. Interface software allows any commercial gaze-tracking device to be connected to gaze-tracking software and thus contributes to standardisation in the field. Furthermore, a Spanish graduate student who has worked with COGAIN partner organisations in Spain and Denmark, developed a downloadable ITU gaze tracking software as part of his doctorate thesis. The ITU Gaze Tracker is an “off-the-shelf gaze tracker that uses an inexpensive webcam or video camera to track the user’s eye. The software is readily available as open source, offering the possibility to try out gaze interaction for a low price and to analyze, improve and extend the software by modifying the source code” Learn more.

    In Finland, representatives of Tikoteekki, the Communication and Technology Centre of the Finnish Association on Intellectual and Developmental Disabilities, lent their expertise in an advisory role. COGAIN products, which can also be used via head mouse, are being downloaded by individual users as well as by institutions. Although funding ended this past August, COGAIN will continue. The COGAIN network, based in Finland and with academic and industrial partners in a dozen countries, has already spawned the Denmark-based COGAIN Association to continue ongoing research and development on gaze-based interaction in computer-aided communication and control.


    Orphanet News
    When it comes to updating rare disease resource data, Italy gets a gold star
    The Orphanet database offers professionals and patients a rich selection of resources relating to rare diseases, organised by country and by domain - including clinics, laboratories, research projects, clinical trials, registries and biobanks. It is vital that this information is current and correct. To achieve this, Orphanet each year launches an update – a process that requires each of Orphanet’s 38 country coordinators to verify the accuracy of their national and regional resources listed on the website by contacting each agency. This year, Italy outperformed all other countries. Eliciting a response from 1215 of 1339 sources contacted, Italy obtained its results the good old-fashioned way: by telephone. Indeed, the Orphanet Italy team relied strongly on the telephone to obtain any changes and updates to the information stored on the website. Other winning results came from Belgium, Croatia, France, Germany, Lithuania and Spain. The next update procedure will begin in just a few months. Is there another country gearing up to try and steal the gold from Italy next year?


    New Syndromes
    A 2q23.1 microdeletion: an emerging phenotype with Angelman-like features
    The authors report two unrelated patients with a de novo interstitial deletion mapping in the 2q23.1 genomic region and presenting "pseudo-Angelman" phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities.
    Read the PubMed abstract

    To read more about "Angelman syndrome"

    J Med Genet ; 847-855 ; December 2009
    A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
    This report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. The authors identified a de novo duplication of at least 15 genes in chromosome 8q12, inclusive of CHD7. Loss of CHD7 by microdeletion or intragenic mutation causes CHARGE syndrome.
    Read the PubMed abstract

    To read more about "CHARGE syndrome"

    Eur J Med Genet ; 436-439 ; November-December 2009
    A new syndrome with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and facial dysmorphism
    The authors report a new syndrome in three affected individuals from a consanguineous family presenting with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum.
    Read the PubMed abstract

    Ophthalmic Genet ; 146-151 ; September 2009
    Familial occurrence linking multiple intestinal atresia and choanal atresia
    The authors report on two familial cases from a non-consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. During the following pregnancy, a dilatation of the foetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post-mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia. An association between multiple intestinal and choanal atresia has never been reported.
    Read the PubMed abstract

    Am J Med Genet ; 2661-2665 ; December 2009
    ALX4 dysfunction disrupts craniofacial and epidermal development
    The authors present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterised by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, callosal body agenesis and intellectual deficit. They identified a homozygous nonsense mutation in the human orthologue of the mouse ALX4 gene.
    Read the PubMed abstract

    Hum Mol Genet ; 4357-4366 ; 15 November 2009

    New Genes

    5q13.3 deletion associated with a range of neurodevelopmental phenotypes
    The authors report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, intellectual deficit and seizures. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.
    Read the PubMed abstract

    To read more about "15q13 microdeletion syndrome"

    Nat Genet ; 1269-1271 ; December 2009
    Hennekam syndrome: CCBE1 mutations at cause
    Lymphedema, lymphangiectasias, intellectual deficit and unusual facial characteristics define the autosomal recessive Hennekam syndrome. The authors identified homozygous and compound heterozygous mutations in the CCBE1 gene in affected subjects.
    Read the PubMed abstract

    To read more about "Hennekam syndrome"

    Nat Genet ; 1272-1274 ; December 2009
    Charcot-Marie-Tooth disease type 4G: mutation in an alternative untranslated exon of hexokinase 1 associated
    Charcot-Marie-Tooth disease, type 4G is a demyelinating CMT peripheral sensorimotor polyneuropathy identified in Bulgarian, Romanian, French, and Spanish Gypsies and is also referred to as hereditary motor and sensory neuropathy-Russe. The authors report the identification of mutations in the HK1 gene. The mutational mechanism and functional effects remain unknown and could involve disrupted translational regulation leading to increased anti-apoptotic activity (suggested by the profuse regenerative activity in affected nerves), or impairment of an unknown function in the peripheral nervous system.
    Read the PubMed abstract

    To read more about "Charcot-Marie-Tooth disease, type 4G"

    Eur J Hum Genet ; 1606-1614 ; December 2009
    Gliomas and glioblastomas: IDH1 mutations produce excess 2-hydroxyglutarate
    Mutations in the enzyme cytosolic isocitrate dehydrogenase 1 (IDH1) are a common feature of a major subset of primary human brain cancers. Here the authors show that cancer-associated IDH1 mutations result in a new ability of the enzyme to catalyse the NADPH-dependent reduction of alpha-ketoglutarate to R(-)-2-hydroxyglutarate (2HG). These data demonstrate that the IDH1 mutations result in production of the onco-metabolite 2HG, and indicate that the excess 2HG which accumulates in vivo contributes to the formation and malignant progression of gliomas.
    Read the PubMed abstract

    To read more about "Glioma"
    To read more about "Glioblastoma"


    Research in Action

    Clinical Research
    Guillain-Barré syndrome: pharmacokinetics and outcome of intravenous immunoglobulin
    Intravenous immunoglobulin (IVIg) is the first choice treatment for Guillain-Barré syndrome (GBS). All patients initially receive the same arbitrary dose of 2g per kg body weight. Not all patients, however, show a good recovery after this standard dose. IVIg clearance may depend on disease severity and vary between individuals, implying that this dose is suboptimal for some patients. The authors show in this study that GBS patients with a small increase in serum IgG level may benefit from a higher dosage or second course of IVIg.
    Read the PubMed abstract

    To read more about "Guillain-Barré syndrome"

    Ann Neurol ; 597-603 ; November 2009
    Fragile X associated tremor/ataxia syndrome: penetrance of marked cognitive impairment in older male FMR1 gene carriers
    Male carriers of the FMR1 premutation are at risk of developing the fragile X-associated tremor/ataxia syndrome (FXTAS). Patients affected with FXTAS primarily present with cerebellar ataxia and intention tremor. Cognitive decline has also been associated with the premutation, but the lack of data on its penetrance is a growing concern for clinicians who provide genetic counselling. In this study involving 74 men aged 50 years or older from fragile X families, male carriers of midsize to large premutation alleles had a sixfold increased risk of developing cognitive decline and the risk increases with allele size. In addition, it was observed that cognitive impairment may precede motor symptoms.
    Read the PubMed abstract

    To read more about "Fragile X-associated tremor/ataxia syndrome"

    J Med Genet ; 818-824 ; December 2009
    DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm
    There is an increased prevalence of imprinting disorders, such as Beckwith-Wiedemann syndrome, associated with human assisted reproductive technologies (ART). Work on animal models suggests that in vitro culture may be the source of these imprinting errors. However, the authors here report that, in some cases, the errors are inherited from the father. They analysed DNA methylation at seven autosomal imprinted loci and the XIST locus in 78 paired DNA samples. In seven out of seventeen cases where there was abnormal DNA methylation in the ART sample (41%), the identical alterations were present in the parental sperm. Furthermore, they also identified DNA sequence variations in the gene encoding DNMT3L, which were associated with the abnormal paternal DNA methylation.
    Read the PubMed abstract

    To read more about "Beckwith-Wiedemann syndrome"

    Eur J Hum Genet ; 1582-1591 ; December 2009
    Pompe disease: improving prognosis by newborn screening and early treatment
    Pompe disease, also referred to as glycogen storage disease type 2, causes progressive, debilitating, and often life-threatening musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but early clinical diagnosis before the development of severe symptoms has rarely been possible in infants. The authors describe a newborn screening pilot programme in Taiwan to improve the early detection of Pompe disease. Six of 206,088 newborns screened tested positive and were treated. Five infants who had early cardiac involvement demonstrated normalisation of cardiac size and muscle pathology with normal physical growth and age-appropriate gains in motor development. The sixth infant had no cardiac involvement but also achieved normal motor development with treatment.
    Read the PubMed abstract

    To read more about "Glycogen storage disease type 2"

    Pediatrics ; e1116-e1125 ; December 2009
    Hemolytic anaemia due to red cell pyruvate kinase deficiency: gene therapy a success in mouse model
    Human erythrocyte R-type pyruvate kinase deficiency (PKD) is a disorder caused by mutations in the PKLR gene that produce chronic nonspherocytic hemolytic anaemia. Besides periodic blood transfusion and splenectomy, severe cases require bone marrow transplant, which makes this disease a good candidate for gene therapy. Here, the normal human R-type pyruvate kinase (hRPK) complementary (cDNA) was expressed in hematopoietic stem cells (HSCs) derived from pklr deficient mice, using a retroviral vector system. Transduced HSCs were transplanted into myeloablated adult PKD mice or in utero injected into nonconditioned PKD fetuses. In the myeloablated recipients, the hematological manifestations of PKD were completely resolved and normal percentages of late erythroid progenitors, reticulocyte and erythrocyte counts, haemoglobin levels and erythrocyte biochemistry were restored. Corrected cells preserved their rescuing capacity after secondary and tertiary transplant.
    Read the PubMed abstract

    To read more about "Hemolytic anemia due to red cell pyruvate kinase deficiency"

    Mol Ther ; 2000-2009 ; December 2009
    Therapeutic Approaches
    Spinocerebellar ataxia type 3: preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model
    Ataxin-3 protein with an expanded polyglutamine repeat causes spinocerebellar ataxia type-3 (SCA3) - also called Machado-Joseph disease - and is cleaved in mammalian cells, transgenic mice and SCA3 patient brain tissue. The pathological significance of Ataxin-3 cleavage has not been carefully examined. The authors developed a Drosophila SL2 cell-based model as well as transgenic fly models. Importantly, comparison of flies expressing either wild-type or caspase-site mutant proteins indicates that Ataxin-3 cleavage enhances neuronal loss in vivo.
    Read the PubMed abstract

    To read more about "Ataxia, spinocerebellar, type 3"

    Hum Mol Genet ; 4843-4852 ; 15 December 2009
    Chronic inflammatory demyelinating polyneuropathy: sera inhibit axonal elongation by Rho-kinase activation in mouse
    Clinical course and prognosis are variable among patients with chronic inflammatory demyelinating polyneuropathy (CIDP), whereas the extent of axonal degeneration is the major prognostic factor. The authors studied the effects of sera from CIDP patients on axonal growth in cultured mouse dorsal root ganglion neurons. Compared with control sera, CIDP sera prominently suppressed axonal outgrowth of dorsal root ganglion neurons and shortened axonal length. The inhibitory activity was abolished by adding Y27632, a Rho-kinase inhibitor. These findings suggest that CIDP sera inhibit axonal elongation by Rho-kinase activation, and some serum factors may be responsible for development of axonal degeneration in CIDP.
    Read the PubMed abstract

    To read more about "Chronic inflammatory demyelinating polyneuropathy"

    Ann Neurol ; 694-697 ; November 2009
    Wilson disease: reduced expression of ATP7B affected by mutations rescued by pharmacological folding
    Wilson disease (WD) is an autosomal recessive copper overload disorder of the liver and basal ganglia. WD is caused by mutations in the gene encoding ATP7B, a protein localised to the trans-Golgi network that primarily facilitates hepatic copper excretion. Current treatment comprises reduction of circulating copper by zinc supplementation or copper chelation. Despite treatment, a significant number of patients have neurological deterioration. The authors investigated whether defects arising from some WD mutations are ameliorated by drug treatment aimed at improvement of protein folding and restoration of protein function. Treatment with pharmacological chaperones 4-phenylbutyrate and curcumin, a clinically approved compound, partially restored protein expression of most ATP7B mutants. These findings might enable novel treatment strategies in WD by directly enhancing the protein expression of mutant ATP7B with residual copper export activity.
    Read the PubMed abstract

    To read more about "Wilson disease"

    Hepatology ; 1783-1795 ; December 2009
    Hurler syndrome: visceral and CNS cross-correction in mice via reprogramming erythroid cells for lysosomal enzyme production
    Hurler syndrome, a severe variant of mucopolysaccharidosis type 1 (MPS I), is a rare lysosomal storage disease. This study sought to evaluate the feasibility and efficacy of reprogramming erythroid cells for production of a lysosomal enzyme, alpha-L-iduronidase The authors demonstrate that late-stage erythroid cells, transduced with a tissue-specific lentiviral vector, can deliver a lysosomal enzyme continuously at supraphysiological levels to the bloodstream and can correct the disease phenotype in both viscera and CNS of MPS I mice.
    Read the PubMed abstract

    To read more about "Mucopolysaccharidosis type 1"

    PNAS USA ; 19958-19963 ; 24 November 2009

    Patient Management and Therapy

    Duchenne muscular dystrophy: best practice guidelines for care now available
    Duchenne muscular dystrophy is a neuromuscular disease characterised by progressive muscle wasting and weakness due to the degeneration of skeletal, smooth and cardiac muscle. A major international consensus document setting out best practice in care for Duchenne muscular dystrophy (DMD) is the culmination of a three-year “extensive review process by 84 international experts representing 20 disciplines across DMD diagnosis and care”. The guidelines, published in the journal Lancet Neurology, are intended for professionals as well as non-professional caregivers and cover the fields of diagnostics, cardiovascular, neuromuscular, gastroenterology and nutrition, orthopaedic and surgical, psychosocial, rehabilitation and respiratory issues, providing recommendations for the treatment individuals with DMD should receive at each stage of the disease. The preparation of the document, guided by the USA Centers for Disease Control, was supported by advocacy groups worldwide and by the international network to advance diagnosis, care and treatment for people with neuromuscular diseases, TREAT-NMD. The academic publication is also being transformed into a comprehensive “family guide”, to be made available at the start of 2010. Consult the guidelines

    Orphan Drugs
    Record breaking number of applications for orphan designation in 2009

    The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) reports a record-breaking number of applications for orphan designation in 2009. So far year, 150 applications for orphan medicinal product designation have been received, already representing an increase of 25% from 2008.

    At the December 2009 COMP meeting, eleven positive opinions were issued for the treatment of:

    - chronic non-infectious uveitis
    - acute lymphoblastic leukaemia
    - chronic myeloid leukaemia
    - Lesch-Nyhan disease
    - chronic inflammatory demyelinating polyneuropathy
    - polycythemia vera
    - Stargardt disease
    - Hodgkin lymphoma
    - diffuse large B-cell lymphoma
    - haemophilia B
    - Duchenne muscular dystrophy

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


    What's on Where?

    2010 Neuromuscular Disorders Conference: Toward a Better Future
    Date: 26-27 February 2010
    Venue: Sydney, Australia

    Featuring a stimulating and progressive programme disseminating the most recent research in the field of neuromuscular conditions, this conference will provide an exciting poster session where up and coming researchers will have an opportunity to present their research to the neuromuscular community.
    For further details

    3rd International Rare Disease Day
    Date: 28 February 2010
    Venue: Worldwide

    This year’s theme: “Patients and Researchers: Partners for Life!”
    For further details

    2nd Pan-European Conference on Haemoglobinopathies
    Date: 13-14 March 2010
    Venue: Berlin, Germany

    This conference aims to further strengthen the national and regional support networks for thalassaemia patients in Europe, and increase awareness among European medical professionals and national health authorities of the disorder, its proper management and prevention.
    For further details

    6th International Conference on Rare Diseases and Orphan Drugs
    Date: 18-20 March 2010
    Venue: Buenos Aires, Argentina

    The 6th International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) for the first time will be convened in the southern hemisphere in agreement with its aim of globalisation of rare disease research and orphan products development activities.
    For further details

    Sickle Cell: The Next 100 Years
    Date: 14-16 April 2010
    Venue: Leicester, United Kingdom

    Sickle Cell: The Next 100 Years will mark the 100th anniversary since Dr James Herrick published his first observations on ‘peculiar elongated cells’, what is now known as sickle cell disease. This three day conference will bring together a selection of papers offering delegates the chance to explore the social research currently being carried out around the world. Deadline for abstract submission: 15 February 2010.
    For further details

    ASA-EHA Conference: Innovative Therapies for Red Cell and Iron Related Disorders
    Date: 16-18 April 2010
    Venue: Cascais, Portugal

    Sessions include: Hematopoietic stem cell therapies; molecular switching in erythroid differentiation; gene therapy; iron regulatory pathway for therapies; innovative therapies for red cell disorders, and more.
    For further details

    18th International Workshop on Vascular Anomalies
    Date: 21-24 April 2010
    Venue: Brussels, Belgium

    Topics will include clinical and basic research in the pathophysiology, diagnosis and management of vascular anomalies, as well as the psychosocial challenges faced by the patients.
    For further details

    Birt-Hogg-Dubé Syndrome Symposium 2010
    Date: 22 April 2010
    Venue: Washington, DC USA

    A symposium for reviewing the latest developments for Birt-Hogg-Dubé syndrome.
    For further details

    5th European Conference on Rare Diseases 2010
    Date: 13-15 May 2010
    Venue: Crakow, Poland

    “From policy to effective services for patients”, this conference will look at national plans and strategies for rare diseases, European reference networks and centres of expertise, information and medical education, science from bench to bedside, rare diseases in central and Eastern Europe, and much more. Deadline for abstract submission: 31 December 2009
    For further details

    7th International Prader-Willi Syndrome Conference: East Meets West – A New World for Prader-Willi Syndrome
    Date: 20-23 May 2010
    Venue: Taipei, Taiwan

    A scientific conference bringing together clinicians and researchers from around the world to present and discuss new research findings relevant to the understanding of PWS, new treatments and support strategies, and policy and practice development will be held alongside and combined with a parent and care-provider conference. There is also a young persons’ programme designed especially by the host country. Deadline for abstract submission: 15 January 2010
    For further details

    22nd Annual Meeting of the European Academy of Childhood Disability
    Date: 27-29 May 2010
    Venue: Brussels, Belgium
    This year’s event - Measures of Progress – Evaluating management outcome in childhood disability - will update and clarify the multidimensional model of disablement specifically applied to management of children with neurodevelopmental disability. Emphasis is on the need for reliable measurement of management outcomes through new findings, from functional imaging to quality of life assessment. Deadline for abstract submission: 1 February 2010
    For further details

    First International Workshop on Oesophageal Atresia
    Date: 27-28 May 2010
    Venue: Lille, France

    Amongst the topics covered will be: molecular embryology of the foregut; environmental factors in the etiology of esophageal atresia; genetic factors in isolated and syndromic esophageal atresia; ultrasound and MRI prenatal diagnosis of OA: impact on management; Outcomes of esophageal atresia beyond childhood; multidisciplinary clinics: how to improve the follow-up of the patients?; and family support groups: an essential contribution to follow-up care.
    For further details

    European Human Genetics Conference 2010
    Date: 12-15 June 2010
    Venue: Gothenburg, Sweden

    In conjunction with the European Meeting on Psychosocial Aspects of Genetics. Deadline for Abstract Submission: 19 February 2010.
    For further details

    14th International Conference on Behçet Disease
    Date: 8-10 July 2010
    Venue: London, England

    Presenting new developments in basic and clinical science to bear on the specific issues of Behçet Disease (BD). Topics to be covered will include immunology of BD, vasculitis in BD, genetic basis of BD, regional inflammation and paediatric BD. The programme will also include debates on topics of current interest or controversy.
    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


    Press & Publications

    Life with Epidermolysis Bullosa: a new book provides guidelines on diagnostics, treatment and care
    Epidermolysis Bullosas (EB) are a group of often painful rare diseases, characterised by the formation of blisters and erosions of the skin and mucous membranes starting at birth. Caused by mutations in the genes encoding the structural proteins of the junction between epidermis and dermis, the disease has many extracutaneous complications. This new book is the first to utilise evidence-based data derived from the world´s largest cohort of inherited EB patients, the American EB Registry. Clinical manifestations, diagnostic considerations, pain management, and therapeutic approaches are all discussed, along with a chapter devoted to gene therapy in hereditary EB, which has been recently successfully performed within a localised skin site on a single EB patient as a proof-of-principle test.

    Title: Life with Epidermolysis Bullosa: Etiology, Diagnosis, Multidisciplinary Care and Therapy
    Authors: Fine, Jo-David; Hintner, Helmut -Eds
    Publisher: Springer, 2009
    ISBN: 978-3-211-7927


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