Fwd: Orphanews Europe 22 April 2013

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José Antonio Navarro

Apr 23, 2013, 4:27:06 AM4/23/13
Recordar que este boletín sólo se distribuye en inglés.


---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2013/4/23
Subject: Orphanews Europe 22 April 2013
To: jana...@yahoo.es

OrphaNews Europe : 22 April 2013
EMA approach to fee reduction for orphan medicinal products: one step forward two steps back according to EBE and EuropaBio

National & International Policy Developments
Other European news
UK leads pioneering efforts to eliminate mitochondrial diseases
Other International News
Novartis loses patent argument for Gleevec in the Indian Supreme Court
Recommendations for progress in the field of rare diseases in China
Guidance Documents and Recommendations
Experts recommendations for managing Familial Hypercholesterolemia
ACMG recommendations on reporting incidental findings in Clinical Exome and Genome Sequencing: NSCG responds to it
Experts discuss approval Non-Invasive Prenatal Testing for high risk pregnancies
Screening and Testing
Opt-out approach for pilot study to screen for Spinal Muscular atrophy

Ethical, Legal & Social Issues
Cost of amyotrophic lateral sclerosis in Taiwan
New EURORDIS website section focusing on Pharmacovigilance helps rare disease patients report problems with their medicines

New Syndromes
A new antibody deficiency syndrome associated with an inherited autosomal dominant mutation in TWEAK
The 3q26.33-3q27.2 microdeletion syndrome

New Genes
Congenital disorder of glycosylation: mosaicism of the UDP-galactose transporter SLC35A2 causes an X-linked disorder with abnormal transferrin glycosylation in infancy
Autosomal recessive complex spastic paraplegia: a homozygous mutation in TFG, impairing endoplasmic reticulum structure, identified in two siblings with an early-onset disease
Inclusion body myopathy/Paget disease of bone/FTD/ALS: mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 are responsible in some families
Left ventricular noncompaction: mutations in the NOTCH pathway regulator MIB1 at cause in autosomal-dominant pedigrees
Osteogenesis imperfecta: mutations in WNT1, mostly recessive, responsible in different forms of early-onset bone fragility
Autosomal recessive nonsyndromic intellectual deficit and hyperphosphatasia intellectual deficiency syndrome: mutations in PGAP2, involved in GPI-anchor synthesis, identified
Adams-Oliver syndrome: recessive mutations in EOGT found at cause in three families, highlighting a developmental role of O-GlcNAcylation
Perrault syndrome: mutations in CLPP identified in three families and mutations in LARS2 discovered in two other families
Scalp-ear-nipple syndrome: missense mutations in KCTD1 found responsible in all ten families tested
2-hydroxyglutaric aciduria: SLC25A1 mutations cause combined D-2- and L-2-hydroxyglutaric aciduria in 12 children and agenesis of corpus callosum and optic nerve hypoplasia in one
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 in a family
Distal myopathy, Welander type: a mutation in the TIA1 gene, encoding a protein involved in splicing and translational regulation, found responsible
Primary dystonia, DYT4 type: mutations in the β-tubulin 4a gene (TUBB4A) at cause
Autosomal dominant spondylocostal dysostosis: first identification of a causal gene, TBX6, in one family
Walker-Warburg syndrome: two homozygous missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) found responsible in a family
Arthrogryposis with oculomotor limitation and electroretinal anomalies: gain-of-function mutations in the mechanically activated ion channel PIEZO2 identified in two kindreds
Distal arthrogryposis: the neuronal endopeptidase ECEL1 is associated with a distinct recessive form
Double outlet right ventricle: a ZIC3 mutation detected in a female with isolated DORV
Common variable immunodeficiency: a homozygous PRKCD mutation (c.1352+1G>A) identified in a boy with B cell deficiency and severe autoimmunity
Autoimmune lymphoproliferative syndrome: a homozygous mutation in PRKCD (c.1840C>T) in a patient with B cell hyperproliferation, NK dysfunction and chronic low grade EBV infection

Research in Action
Clinical Research
Fabry disease: long term enzyme replacement therapy does not prevent disease progression, but longer treatment duration may lower the risk of developing additional complications
Glycogen storage disease due to acid maltase deficiency: a prospective international observational study shows a positive effect of enzyme replacement therapy on survival in adults
Nonacetaminophen acute liver failure: N-acetylcysteine did not improve 1-year survival in paediatric patients in a placebo-controlled study
Precursor B-cell acute lymphoblastic leukaemia: marked antitumour efficacy of 19-28z chimeric antigen receptor-modified T cells in adults with relapsed disease
Indolent and mantle-cell lymphomas: bendamustine and rituximab more effective and less toxic than rituximab-CHOP as first-line treatment in a phase 3 study
Enteropathy-associated T-cell lymphoma: autologous stem cell transplantation provides long-term remission in the majority of patients transplanted in first remission
Systemic sclerosis: a retrospective assessment of autologous haemopoietic stem-cell transplantation
Sickle cell anaemia: preoperative transfusion was associated with decreased perioperative complications in a randomised, controlled, multicentre clinical trial
Malignant atrophic papulosis: effective treatment with treprostinil in two patients with MAP or MAP-like lesions
Mixed cryoglobulinaemia associated with lymphoma: fludarabine, cyclophosphamide, and rituximab (FCR) regimen appears as an effective treatment in seven severe and refractory cases
Primary mediastinal large B-cell lymphoma: therapy with dose-ajusted-EPOCH-rituximab obviated the need for radiotherapy in a single-group, phase 2, prospective study
Gene Therapy
Usher syndrome type 1: sustained rescue of hearing and vestibular function with a single neonatal injection of antisense oligonucleotides in a mouse model
Leber congenital amaurosis: S/MAR-containing DNA nanoparticles promote persistent retinal pigment epithelium gene expression and improvement in RPE65(-/-) mice
Duchenne muscular dystrophy: microdystrophin ameliorates muscular dystrophy in the canine model
Therapeutic Approaches
Fragile X syndrome: rescue of FMR1 knockout mice phenotype by the small-molecule PAK inhibitor FRAX486
X-linked centronuclear myopathy: enzyme replacement therapy rescues weakness and improves muscle pathology in model mice
Acute myeloid leukaemia: fenretinide, a well-tolerated vitamin A derivative, appears as a potent agent that selectively targets leukaemia stem cells
B-cell chronic lymphocytic leukaemia: remarkable efficacy of a humanised monoclonal antibody specific for CD44
Menkes disease: L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a mouse model, but without arrest of global brain pathology nor improvement of somatic growth
Amyotrophic lateral sclerosis: molecular chaperone HSP110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm
Diagnostic Approaches
Autosomal dominant nonsyndromic sensorineural deafness type DFNA: predicting genotypes from phenotypes to guide genetic screening with the software system AudioGene

Patient Management and Therapy
Autoinflammatory diseases: results from the Eurofever Registry and a literature review proposed as a basis for therapeutic guidelines
Low-risk papillary and differentiated thyroid cancers: two reviews
Aristolochic acid nephropathy: a narrative review on epidemiology, diagnosis, and management

Orphan Drugs
Regulatory News
A new model for the drug development pipeline
The regulatory success of Protein Replacement therapies
Political and Scientific News
Small clinical trials: challenges and support

Funding announced to develop treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Funding available to investigate treatment for Plexiform Neurofibroma
NORD announces seed grants for rare disease research
Jerome Lejeune Foundation announces Prix International Sisley-Jérôme Lejeune
Call for Abstracts from researchers studying Rare Diseases for publication in the Journal of General Internal Medicine

Partnersearch, Job Opportunities
Position for Bioinformatics Group at The Institute of Genetic Diseases Imagine
Research Associate/ Postdoctoral Scientist: to lead on impact activities for EU network

Courses & Educational Initiatives
International Summer School “Clinical practice guidelines on rare diseases”

What's on Where?
International Rare Diseases Research Consortium Conference 2013
World Federation of Hemophilia 13th International Musculoskeletal Congress 2013
7th Alstrom Syndrome International Family Conference and Scientific Symposium
Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
4th International DSD (Disorders of Sex Development) Symposium
12th European Symposium on Congenital Anomalies
10th HHT Scientific Conference
World Orphan Drug Congress Asia
6th International Conference on Children's Bone Health
Fifth BHD Symposium and Second HLRCC Symposium
9th European Cytogenetics Conference
8th International Prader-Willi Syndrome Conference
Orphan Drugs Summit 2013
2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
Mitochondrial Disease: Translating biology into new treatments
Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
Thalassemia International Federation World Congress
First International Primary Immunodeficiencies Congress (IPIC)
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)

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