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| OrphaNews Europe : 15 October 2013 |
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| Editorial |
| ECRIN funds clinical trials to augment rare disease research |
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| Spotlight on... |
| Coordination of Rare Diseases at Sanford (CoRDS) – Q&A with Liz Donohue |
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| Interview |
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| National & International Policy Developments |
| Draft NIH Genomic Data Sharing Policy Request for Public Comments |
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| Other European news |
| Is it too early for mitochondrial replacement therapy to see the light of day? |
| Eurogentest survey to assess requirements of professionals working in a genetic center |
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| Other International News |
| A good year for rare disease research as multiple projects are awarded by NIH |
| Australian Department of Health sets up Post-Market review of their Life Saving Drugs Program |
| ISPOR (International Society for Pharmacoeconomics and Outcomes Research) is implementing a rare disease Special Interest Group (SIG) |
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| Guidance Documents and Recommendations |
| Use of preimplantation genetic diagnosis for serious adult onset conditions: a committee opinion |
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| Bioinformatics, Registries and Data Management |
| Novel post-approval registry for Canakinumab |
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| Screening and Testing |
| Prenatal screening: Experience of a Prenatal Diagnosis Center in Italy |
| Concerted efforts in Turkey to reduce incidence of hereditary rare diseases |
| Clinical management of rare renal disease in the absence of scientific evidence to support clinical practice |
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| Ethical, Legal & Social Issues |
| What is the kind of assistance caregivers of patients with Juvenile Huntington’s Disease looking for? |
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| New Syndromes |
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| New syndrome featuring severe dermatitis, multiple allergies and metabolic wasting caused by homozygous mutations in DSG1 |
| Novel syndrome characterized by hypopituitarism, post-natal microcephaly, visual and renal abnormalities due to an ARNT2 mutation |
| Previously unreported condition of intellectual disability, unusual facial morphology and hand anomalies |
| A new form of severe spondyloepimetaphyseal dysplasia described in two patients |
| Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts in seven children |
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| New Genes |
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| Acute lymphoblastic leukemia: identification of PAX5 and TP53 as susceptibility genes |
| Intermediate form of autosomal-recessive Charcot-Marie-Tooth disease due to two homozygous mutations in PLEKHG5 in two consanguineous families |
| Chronic pancreatitis: variants in CPA1 are strongly associated with early-onset disease |
| Dyschromatosis universalis due to mutations in ABCB6 in a five-generation Chinese family and in two additional cases |
| Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS |
| West syndrome: SCN2A mutations identified in one case, and in seven cases with Ohtahara syndrome evolving to West syndrome |
| Hereditary spastic paraplegia type 43 is due to a homozygous missense mutation in C19orf12 |
| Idiopathic bronchiectasis: identification of two missense variants in SLC26A9 in heterozygous patients that could trigger the pathogenic role of a single CFTR mutation |
| A case of paroxysmal nocturnal hemoglobinuria caused by a heterozygous germline splice site mutation and a somatic deletion in PIGT |
| Mosaic variegated aneuploidy syndrome: identification of haploinsufficiency or heterozygous mutations in BUB1 and BUB3 |
| Primary sclerosing cholangitis: genome-wide association analysis identified risk loci at GPR35 and TCF4 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations-like phenotype due to homozygous missense mutations in NIN and POLE2, with mutant NIN most likely causative |
| Primary ovarian failure associated with a heterozygous stop codon in elF4ENIF1 in nine women in three consecutive generations |
| Isolated cytochrome C oxidase deficiency: novel heterozygous mutations in SCO1 in one patient with fatal encephalopathy but without hepatopathy or hypertrophic cardiomyopathy |
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| Research in Action |
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| Clinical Research |
| Schnitzler syndrome: monthly 150 mg canakinumab injection was effective and well-tolerated in a 9 months study |
| Familial amyloid polyneuropathy: ALN-TTR01 and ALN-TTR02 suppressed the production of both mutant and non-mutant forms of transthyretin |
| Uveal melanoma: durable responses to ipilimumab and manageable toxicity in 39 patients |
| Neurofibromatosis type 1: chemotherapy for the treatment of malignant peripheral nerve sheath tumors did not seem to reduce mortality in a retrospective review |
| Cholesteryl ester storage disease: sebelipase alfa is well tolerated, rapidly decreases serum transaminases, and improves serum lipid profile on the long-term |
| Biliary atresia: endoscopic therapy appears to be well tolerated and greatly reduces the risk of variceal bleeding in children, although continued endoscopic surveillance is needed |
| Therapies in development for mucopolysaccharidosis type 3 |
| Behçet’s disease: potential for using gevokizumab for the treatment of uveitis |
| Gene therapy for Wiskott-Aldrich syndrome |
| Cystic fibrosis gene therapy is moving forward |
| Acute myeloid leukemia: vascular-targeting with an F16 antibody fused to IL-2, associated with cytarabine, significantly reduced AML lesions in a patient with disseminated disease |
| Mild and moderately severe hemophilia A: F8 genotyping facilitates the identification of patients at high-risk of developing inhibitor |
| Rare mitochondrial DNA mutations probably account for more than 7.4% of patients with respiratory chain deficiency |
| Limbic encephalitis with NMDA receptor antibodies is associated with functional and structural brain changes despite normal findings in routine clinical MRI |
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| Gene Therapy |
| FKRP-related muscular dystrophies: significant improvement in pathology, serum creatine kinase levels and muscle function with AAV9-mediated FKRP gene therapy in model mice |
| Limb girdle muscular dystrophy type 2A: a new AAV vector with CAPN3 expression restricted to skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model |
| Mucopolysaccharidosis type IIIB: targeting both the systemic and central nervous system early in life appears to be the most efficacious approach in model mice |
| Mucopolysaccharidosis type IIIA: evidence of neurological disease correction using autologous myeloid driven lentiviral-hematopoietic stem cells gene therapy in model mice |
| Acute neonatal citrullinemia type I: adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice |
| Autosomal-recessive infantile malignant osteopetrosis: lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function |
| Development of gene therapy for blood disorders: an update |
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| Therapeutic Approaches |
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| Huntington disease: glutathione peroxidase activity is neuroprotective in yeast, mammalian cells and Drosophila models |
| Young adult-onset Parkinsonism: both ursocholanic acid and ursodeoxycholic acid rescue mitochondrial function in LRRK2G2019s mutant fibroblasts |
| Methylmalonic acidemia type cblB: pharmacological chaperones as a potential therapeutic option |
| Heritable pulmonary arterial hypertension with BMPR2 mutation or deficiency: chloroquine as a potential therapeutic approach through the restoration of cell surface BMPR-2 |
| Spinal muscular atrophy: the Dcps inhibitor RG3039 improves motor function and survival in model mice |
| Amyotrophic lateral sclerosis: treatment of model mice treated with anti-miR-155 significantly extended survival by 10 days and disease duration by 15 days |
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| Diagnostic Approaches |
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| Pseudotumor cerebri syndrome: revised diagnostic criteria in adults and children |
| Need for revision of the World Health Organization criteria for diagnosis of polycythemia vera |
| Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model |
| Autoimmune necrotizing myopathy: a review |
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| Patient Management and Therapy |
| Cold agglutinin disease: a review |
| Primary sclerosing cholangitis: review of pathogenesis and advances in diagnosis and management |
| Brachydactyly type E: review on the isolated disease or as a feature of a syndrome |
| Hereditary ataxias: overview |
| Takayasu arteritis: main clinical features and recent insights into diagnosis and treatments |
| Management of CADASIL syndrome |
| Treatment options for graft versus host disease |
| Intermediate-dose versus high-dose prophylaxis for severe hemophilia: comparing outcomes and costs since 1970s |
| Neurodevelopmental disorders and genetic testing: current approaches and future advances |
| Alpha-1-antitrypsin deficiency: diagnostic testing and disease awareness in Germany and Italy |
| Peripheral neuropathy in mitochondrial disorders |
| Three new Clinical Utility Gene Cards and four Clinical Utility Gene Cards updates published in the European Journal of Human Genetics |
| The European Journal of Human Genetics has published four Clinical Utility Gene Cards updates |
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| Orphan Drugs |
| Drisapersen - exon skipping drug for DMD - fails to reach its primary endpoint in a Phase III trial |
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| Political and Scientific News |
| Delivery of lentiviral vectors using hematopoietic stem cells: a new era of treatment |
| The treatment of neuronal ceroid lipofuscinosis - a focus on clinical trial development |
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| Grants |
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| SMA Europe announces its 6th international Call for SMA Research Projects |
| The French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY NOW! |
| Clinical studies of safety and effectiveness of orphan products research project grant (FDA, USA) |
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| Courses & Educational Initiatives |
| Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation |
| 2nd International Workshop Rare disease and Orphan Drug Registries |
| 1st Asia Pacific Inborn Errors of Metabolism course |
| European Cytogeneticists Association Courses |
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| What's on Where? |
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| 2013 PVNH Support & Awareness Conference |
| 3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management” |
| Thalassemia International Federation World Congress |
| World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease |
| EUROPLAN National Conferences Hungary |
| The 8th ICORD Meeting |
| First International Primary Immunodeficiencies Congress (IPIC) |
| EUROPLAN National Conferences Lithuania |
| EUROPLAN National Conferences The Netherlands |
| 5th European Symposium on Rare Anaemias |
| EUROPLAN National Conferences Italy |
| EUROPLAN National Conferences Luxembourg |
| EUROPLAN National Conferences Serbia |
| EUROPLAN National Conferences France |
| EUROPLAN National Conferences Spain |
| EUROPLAN National Conferences Ireland |
| EUROPLAN National Conferences Belgium |
| 14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) |
| 19th Congress of the European Association of Hospital Pharmacists |
| The 9th International Congress on Autoimmunity |
| 2014 Lymphangioleiomyomatosis International Research Conference |
| 7th European Conference on Rare Diseases & Orphan Products (ECRD 2014) |
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| World Orphan Drug Congress 2013 |
| Explaining the Price of Orphan Drugs |