OrphaNews Europe : 27 August 2014 (TEXT)

Ireland and Scotland adopt national rare disease plans and Spain updates its national plan

EU Policy News
ERRATUM: article on “First Conference on European Reference Networks sheds light on the future of ERNs” published 17 July 2014
Recommendations on improving haemophilia patient management in Italy
Haemophilia centre accreditation in Italy could serve as a model for other European countries and other rare diseases
European Guidelines for the Certification of Haemophilia Centres

National & International Policy Developments
National strategies to improve paediatric cancer treatment in low- and middle-income countries
Other International News
Patient-initiated guidance on clinical development of treatment for Duchenne Muscular Dystrophy
NIH partners with American medical universities to accelerate diagnosis of rare diseases
A new research organisation dedicated to Down syndrome: Trisomy 21 Research Society (T21RS)
Guidance Documents and Recommendations
Congenital muscular dystrophy: review of diagnostic approaches made by the International Committee on the Standard of Care for Congenital Muscular Dystrophies
Ocular myastheny: European Federation of Neurological Societies and European Neurological Society guidelines for the treatment
Hereditary non-polyposis colon cancer: guidelines on genetic evaluation and management from the US Multi-Society Task Force on Colorectal Cancer
Idiopathic pulmonary fibrosis: French practical guidelines on diagnosis and management
Maple syrup urine disease: nutrition management guideline
Bioinformatics, Registries and Data Management
The need to build minimum and common data sets to research, diagnose and treat rare diseases more efficiently
Internet tools as effective methods to recruit rare disease patients into registries
The long road to constituting the Italian national rare disease registry
Screening and Testing
Next generation sequencing is more rapid and cost effective to diagnose hereditary Alport syndrome
Advances in genetic screening tools throw light on genetic causes of epilepsy

New Syndromes
Novel form of myopathy linked to a homozygous mutation in TOR1AIP1 in a consanguineous family
Novel neurodegenerative phenotype associated to a homozygous PCNA missense mutation in a family
Tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly due to a homozygous mutation in FGFR3 in two brothers
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement in a large family
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease associated with a missense mutation in PRPS1 in two male siblings
Congenital myopathy with fatigable weakness responding to pyridostigimine linked to mutations in RYR1 in two siblings
A novel overgrowth condition including macrocephaly, obesity, speech delay and advanced carpal ossification is due to heterozygous mutations in SETD2 in two patients

New Genes
Autosomal recessive epileptic encephalopathy with seizure onset in the first day of life is caused by heterozygous mutations in SLC13A5 in two families
Autosomal recessive cone rod dystrophy due to mutations in POC1B
Ectopic progenitors and neuronal heterotopia in mouse and human are linked to mutations in EML1
Limb-girdle muscular dystrophy type 1G caused by mutations in HNRPDL in two families
Recessive non-syndromic, prelingual, profound hearing loss due to a splice site mutation in FAM65B in a consanguineous Turkish kindred
Blackfan-Diamond anemia caused by RPS29 mutations in two families
Blackfan-Diamond anemia with mandibulofacial dystostosis associated with TSR2 and RPS28 mutations
46, XY partial gonadal dysgenesis linked to increased gene copy numbers of VAMP7
Behr syndrome is due to homozygous nonsense mutation in C12orf65 in four patients from three unrelated families
Impaired neuromuscular transmission is associated with mutations of the SLC25A1 gene
Intracranial germ cell tumours linked to JMJD1C germline mutations and to KIT/RAS signaling pathway somatic mutations
X-linked recessive intellectual disability with features of 3C syndrome associated with missense variant in CCDC22 in an Austrian family with two affected male children
Microphthalmia and anterior segment dysgenesis caused by novel mutations in PXDN
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Noonan-like syndrome with a variable phenotype ranging from severe to very mild is associated with heterozygous germline mutations in A2ML1
Mitochondrial encephalomyopathies due to VARS2 and TARS2 mutations
Genetic variants of the KCNQ1 gene confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission
Leri pleonosteosis results from microduplication at 8q22.1 encompassing GDF6 and SDC2 in two families

Research in Action
Clinical Research
Infantile neuronal ceroid lipofuscinosis: combination therapy with cysteamine bitartrate and N-acetylcysteine is beneficial for the patients
Sickle cell anemia: non-myeloablative allogeneic hematopoietic stem cell transplantation allows for complete replacement with circulating donor red blood cells
Hepatocellular carcinoma: everolimus did not improve overall survival in patients whose disease progressed during or after receiving sorafenib
B-cell chronic lymphocytic leukemia: ibrutinib significantly improves progression-free survival and response rate compared to ofatumumab
Metastatic enteropancreatic neuroendocrine tumors: lanreotide significantly prolonged progression-free survival
Pediatric autoimmune and inflammatory central nervous system diseases: rituximab should be restricted to disorders with significant mortality due to its infectious risk
Acquired thrombotic thrombocytopenic purpura: preemptive rituximab infusions after remissions efficiently prevent relapses
Phenylketonuria: rAvPAL-PEG is safe and reduces blood phenylalaline concentrations even though it develops antibodies against polyethylene glycol
Hutchinson-Gilford progeria syndrome: increased survival with protein farnesylation inhibitors
Shared medical appointments improve quality of life in neuromuscular patients
Thrombotic thrombocytopenic purpura: active monitoring and management during pregnancy results in positive pregnancy outcomes
Malaria: the early concentration of once-infected erythrocytes is a solid candidate marker to predict post-artesunate delayed hemolysis
Somatic NLRP3 mosaicism underlying Muckle-Wells syndrome
Ornithine transcarbamylase deficiency: clues for early diagnosis and timely treatment
Stem Cells
Amyotrophic lateral sclerosis: focal transplantation of human iPSC-derived glial-rich neural progenitors improves lifespan of mice
Gene Therapy
Spontaneous autoimmune peripheral polyneuropathy: vasoactive intestinal polypeptide expressing dendritic cells protects against the disease
Leber congenital amaurosis: CEP290 gene transfer rescues the cellular phenotype
Therapeutic Approaches
Rett syndrome: functional recovery and phenotype amelioration with recombinant human IGF1 and β2-adrenergic receptor agonist treatments in a mouse model
Duchenne muscular dystrophy: effective dystrophin restoration by a novel muscle-homing peptide-morpholino conjugate in mdx mice
Severe spinal muscular atrophy: human growth hormone increases survival motor neuron expression and survival in mouse model
Amyotrophic lateral sclerosis: treatment with an antibody directed against Nogo-A delays disease progression in mouse model
Huntington disease: Xpro1595, a dominant negative inhibitor of soluble TNF-α, suppresses inflammatory responses and improves the impaired motor function in model mice
Head and neck cancer: on-demand intracellular amplification of chemoradiation with cancer-specific plasmonic nanobubbles improves efficacy of chemoriadiation
Diagnostic Approaches
Arthrogryposis syndrome: diagnostic approach to etiology, classification, genetics, and general principles
‘Clinical Face Phenotype Space’, an algorithm extracting phenotypic information from photographs, is relevant for diagnosis in eight syndromes with dysmorphic features
Neuro-cardio-facio-cutaneous syndromes: combined MPS-Sanger sequencing based strategy as an effective diagnostic tool for heterogeneous diseases
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Idiopathic inflammatory myopathy: combining MRI and muscle biopsy improves diagnostic accuracy
Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome

Patient Management and Therapy
Congenital heart malformation: cardiovascular management in pregnancy
Goldenhar syndrome: early ultrasound screening should be performed in all infants born with the disorder because of a high rate of associated anomalies
Classic galactosemia: a re-evaluation of life-long severe galactose restriction for the nutrition management
Gastric cancer: review on angiogenesis inhibitors
Anaplastic oligodendroglioma and oligoastrocytoma: review on adjuvant treatment
Coenzyme Q10 deficiency syndrome: four articles on clinical presentation, biochemical diagnosis, genetics and therapy
Uveitis associated with juvenile idiopathic arthritis: review of the treatment
Anti-neutrophil cytoplasmic antibody-associated vasculitis: review of the treatment
Disorder of sex development: review on transition of care for adolescents
Aggressive pituitary adenoma: review on diagnosis and emerging treatments
Cataplexy: review on clinical aspects, pathophysiology and management strategy
Neurofibromatosis type 1: review on a multidisciplinary approach to care
Giant cell arteritis and polymyalgia rheumatica: a review
Non-infectious cryoglobulinemia vasculitis: review on clinical and therapeutic approaches
Kawasaki disease: review on pathophysiology, clinical manifestations and management
Respiratory bronchiolitis - interstitial lung disease: a review
Hamartomatous polyposis syndromes: a review
IgG4-related diseases: a review
Tracheobronchopathia osteochondroplastica: a review
Eosinophilic esophagitis: a review
2 new and 8 updated GeneReviews published

Orphan Drugs
Need for paediatric labelling of drugs to improve treatment in children
Recommendations to improve efficiency of clinical trials for rare diseases
A study of the literature sheds light on trends in rare disease and orphan drug research
Regulatory News
FDA approves Ruconest to treat patients with hereditary angioedema (HAE)
27 positive opinions recommending orphan designation at the July 2014 COMP meeting

The Sturge-Weber Foundation Research Grants
Myotonic Dystrophy Foundation (MDF) Fund-a-Fellow postdoctoral grant programme
Call for tender Chafea/2014/Health/05 concerning the development of a manual and toolbox for the assessment of European Reference Networks
DEBRA International research grants
NBIA Disorders Association Announces Research Grants for Pantothenate Kinase-Associated Neurodegeneration (PKAN)
FRT - Fondation René Touraine (FRT) Award

Courses & Educational Initiatives
EUPATI Training Course
International Summer School: Rare diseases and orphan drug registries
‘Explique-moi les essais cliniques’: The keys to understanding clinical trials to become an actor of one’s disease (in French)
Genodermatoses Network Training Session
III International EPIRARE workshop: Rare disease and orphan drug registries
Quality assessment of health care guidelines for rare diseases
Health care guidelines for rare diseases

What's on Where?
Third Symposium ATP1A3 in disease: Genotype/phenotype correlations, modelling and identification of potential targets for treatment
3rd Nordic Conference on Rare Diseases
25th European Dysmorphology Meeting
National Huntington's Conference
EFGCP Multi-Stakeholder Workshop & Discussion: How to Ensure Optimal Ethical Review within the New Clinical Trials Regulation?
15th International Conference on Human Genome Variation and Complex Genome Analysis (HGV2014)
International Clinical Conference Jérôme Lejeune: Intellectual disability and the importance of assessment
SIOPE – ENCCA Conference 2014: Joining Efforts for a Brighter Future for Children and Adolescents with Cancer
16th International Conference on Behçet’s Disease
2nd European Conference on Aniridia
4th Annual Brain Metastases Research and Emerging Therapy Conference
9th International Research Symposium on Marfan Syndrome and related disorders
3rd International Conference on Immune Tolerance 2014
EFGCP / DIA / EMA Annual Conference 2014 on Better Medicines for Children: ‘Explore Ways to Enhance Collaboration Between Key Players’
Single topic symposium in metabolic liver disease
ICORD 2014 Annual Meeting: Societal value of Prevention, Diagnosis and Treatment of Rare Diseases
The Translational Science of Rare Diseases: From Rare to Care II
9th ISNS European Neonatal Screening Regional Meeting
Dysmorphology and Radiology of Inborn Errors of Metabolism
International Scientific Symposium on Angelman Syndrome 2014
64th Annual Meeting of the American Society of Human Genetics: ASHG 2014
NORD’s Rare Diseases and Orphan Products Breakthrough Summit
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
International VHL Medical Symposium
30th Annual Meeting of the Histiocyte Society
ESID Meeting 2014
New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
2nd International Rare Diseases Research Consortium (IRDiRC) Conference
4th Pan-European Conference on Haemoglobulinopathies and Rare Anaemias
Third International Symposium on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Ataxia Telangiectasia Clinical Research Conference 2014
Cilia 2014
22nd René Touraine Foundation for Dermatology Scientific Meeting
Trisomy 21 Research Society (T21RS) International Conference
7th International Conference on Children’s Bone Health
2nd International Primary Immunodeficiencies Congress (IPIC)
13th International Congress of Human Genetics (ICHG) 2016
Orphan Drugs Summit 2014
The Orphan Drugs, Collaborations & Market Access Congress
Orphan Drugs and Rare Diseases
3rd annual World Biosimilar Congress
The World Orphan Drug Congress Europe 2014