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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/28427466/determinants-of-orphan-drugs-prices-in-france-a-regression-analysis
#1
Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard, Mondher Toumi
BACKGROUND: The introduction of the orphan drug legislation led to the increase in the number of available orphan drugs, but the access to them is often limited due to the high price. Social preferences regarding funding orphan drugs as well as the criteria taken into consideration while setting the price remain unclear. The study aimed at identifying the determinant of orphan drug prices in France using a regression analysis. METHODS: All drugs with a valid orphan designation at the moment of launch for which the price was available in France were included in the analysis...
April 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28427448/capture-recapture-methodology-to-study-rare-conditions-using-surveillance-data-for-fragile-x-syndrome-and-muscular-dystrophy
#2
Michael G Smith, Julie Royer, Joshua Mann, Suzanne McDermott, Rodolfo Valdez
BACKGROUND: Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrative data file to assess the number of cases of two rare conditions, fragile X syndrome (FXS) and muscular dystrophy (MD) in a population. METHODS: Two methods of data collection were used to collect information from five counties comprising two standard metropolitan statistical areas of South Carolina...
April 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28427470/pulmonary-hypertension-in-lymphangioleiomyomatosis-prevalence-severity-and-the-role-of-carbon-monoxide-diffusion-capacity-as-a-screening-method
#3
Carolina S G Freitas, Bruno G Baldi, Carlos Jardim, Mariana S Araujo, Juliana Barbosa Sobral, Gláucia I Heiden, Ronaldo A Kairalla, Rogério Souza, Carlos R R Carvalho
BACKGROUND: Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the study were to describe the prevalence and characteristics of PH in a large cohort of LAM patients with different levels of severity, and to evaluate the role of echocardiography and carbon monoxide diffusion capacity (DLCO) as screening methods for PH in LAM. METHODS: One hundred five LAM patients underwent transthoracic echocardiography, pulmonary function tests (PFTs) and 6-min walk test (6MWT)...
April 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28427469/graves-orbitopathy-as-a-rare-disease-in-europe-a-european-group-on-graves-orbitopathy-eugogo-position-statement
#4
P Perros, L Hegedüs, L Bartalena, C Marcocci, G J Kahaly, L Baldeschi, M Salvi, J H Lazarus, A Eckstein, S Pitz, K Boboridis, P Anagnostis, G Ayvaz, A Boschi, T H Brix, N Currò, O Konuk, M Marinò, A L Mitchell, B Stankovic, F B Törüner, G von Arx, M Zarković, W M Wiersinga
BACKGROUND: Graves' orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare...
April 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28427446/respiratory-chain-complex-iii-deficiency-due-to-mutated-bcs1l-a-novel-phenotype-with-encephalomyopathy-partially-phenocopied-in-a-bcs1l-mutant-mouse-model
#5
Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A Eklund, Vineta Fellman
BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene constitute the most common diagnosed cause of CIII deficiency, and the phenotypic spectrum arising from mutations in this gene is wide. RESULTS: A case of CIII deficiency was investigated in depth to assess respiratory chain function and assembly, and brain, skeletal muscle and liver histology...
April 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28416019/a-window-into-living-with-an-undiagnosed-disease-illness-narratives-from-the-undiagnosed-diseases-network
#6
Rebecca C Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R Hooper, Vandana Shashi
BACKGROUND: Patients' stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expectation of recovery), chaos (suffering and loss), and quest (unexpected positive effect from illness). Undiagnosed patients have unique illness experiences and obtaining their narratives would provide insights into the medical and emotional impact of living with an undiagnosed illness...
April 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28412959/opportunities-for-developing-therapies-for-rare-genetic-diseases-focus-on-gain-of-function-and-allostery
#7
Binbin Chen, Russ B Altman
BACKGROUND: Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights: first, diseases with gain-of-function mutations and late onset are more likely to have drug options; second, drugs are more often inhibitors than activators; and third, some disease-causing proteins can be rescued by allosteric activators in diseases due to loss-of-function mutations...
April 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28410602/extreme-caution-on-the-use-of-sirolimus-for-the-congenital-hyperinsulinism-in-infancy-patient
#8
LETTER
Indraneel Banerjee, Diva De Leon, Mark J Dunne
We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with hyperinsulinism. We are not convinced by the argument that any benefit for some patients outweighs the potential and later long-term problems that accompany mTOR inhibition in the neonate. We also express the opinion that caution must be taken when repurposing/repositioning therapies in the field of rare disease...
April 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28399932/guideline-recommendations-for-diagnosis-and-clinical-management-of-ring14-syndrome-first-report-of-an-ad-hoc-task-force
#9
REVIEW
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28399928/australian-children-living-with-rare-diseases-experiences-of-diagnosis-and-perceived-consequences-of-diagnostic-delays
#10
Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott
BACKGROUND: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases. RESULTS: Of 462 children, 96% were born in Australia, 55% were male, median age was 8...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28399889/cardiac-pathology-in-spinal-muscular-atrophy-a-systematic-review
#11
REVIEW
C A Wijngaarde, A C Blank, M Stam, R I Wadman, L H van den Berg, W L van der Pol
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#12
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28376890/xeroderma-pigmentosum-cockayne-syndrome-complex
#13
REVIEW
Valerie Natale, Hayley Raquer
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients...
April 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28372595/orphan-medicinal-products-in-europe-and-united-states-to-cover-needs-of-patients-with-rare-diseases-an-increased-common-effort-is-to-be-foreseen
#14
Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi, Adriana Ceci
BACKGROUND: In the European Union (EU) and United States (US), specific regulations have been released to provide incentives to develop and sell orphan medicinal products. We analysed the status of orphan drugs designated that not yet received a marketing authorisation or already marketed for patients affected by rare diseases in the EU and US up to December 2015. For each drug, the following data were extracted: designation date, active substance(s), orphan condition and indication, trade name, approved therapeutic indication, approved ages, genetic nature of disease and if affects children...
April 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28359278/review-of-11-national-policies-for-rare-diseases-in-the-context-of-key-patient-needs
#15
REVIEW
Safiyya Dharssi, Durhane Wong-Rieger, Matthew Harold, Sharon Terry
Rare diseases collectively exert a global public health burden in the severity of their manifestations and the total number of people they afflict. For many patients, considerable barriers exist in terms of access to appropriate care, delayed diagnosis and limited or non-existing treatment options. Motivated by these challenges, the rare disease patient community has played a critical role, elevating the patient voice and mobilizing legislation to support the development of programs that address the needs of patients with rare diseases...
March 31, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28351420/urinary-glutamine-glutamate-ratio-as-a-potential-biomarker-of-pediatric-chronic-intestinal-pseudo-obstruction
#16
LETTER
Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang, Wei Cai
Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other gastrointestinal diseases like short bowel syndrome (SBS). Therefore, it is desirable to identify and establish new laboratory diagnostic markers for CIPO that are reliable and easily accessible...
March 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28347346/7-day-weighed-food-diaries-suggest-patients-with-hereditary-hemorrhagic-telangiectasia-may-spontaneously-modify-their-diet-to-avoid-nosebleed-precipitants
#17
LETTER
Helen Finnamore, B Maneesha Silva, B Mary Hickson, Kevin Whelan, Claire L Shovlin
Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links between HHT nosebleeds and certain food groups. In this letter, we report 7-day weighed food diary assessments of an unselected group of 25 UK patients with HHT whose nosebleeds ranged from mild to severe (median epistaxis severity score 4.66, range 0.89- 9.11). The diaries provide evidence that food items most commonly reported to provoke nosebleeds were ingested by fewer HHT patients, compared to food items less commonly reported to provoke nosebleeds (chi-squared p <0...
March 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28330479/health-technology-assessment-of-new-drugs-for-rare-disorders-in-canada-impact-of-disease-prevalence-and-cost
#18
LETTER
Nigel S B Rawson
BACKGROUND: Authors from the Canadian Agency for Drugs and Technologies in Health (CADTH) presented an analysis of submissions to the Common Drug Review (CDR) between 2004 and February 3, 2016 for drugs for rare disorders (disorders with a prevalence of <50 per 100,000). OBJECTIVE: The aim of this analysis was to examine the same CDR submissions to evaluate whether the negative reimbursement recommendation rate, clinical evidence of efficacy and statements concerning the drug's cost in the CDR reports varied with the prevalence of the disorder treated by the drug grouped into three decreasing categories: <50 to >10, ≤10 to >1, and ≤1 per 100,000...
March 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28327205/combined-methylmalonic-acidemia-and-homocysteinemia-presenting-predominantly-with-late-onset-diffuse-lung-disease-a-case-series-of-four-patients
#19
LETTER
Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu, Shunying Zhao
Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.We report 4 children with combined MMA and homocysteinemia who presented predominantly with late-onset diffuse lung diseases (DLD). Of these, 3 accompanied by pulmonary arterial hypertension (PAH), 1 accompanied by hypertension, and 2 accompanied by renal thrombotic microangiopathy (TMA), which was confirmed by renal biopsy...
March 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28320476/developing-and-evaluating-rare-disease-educational-materials-co-created-by-expert-clinicians-and-patients-the-paradigm-of-congenital-hypogonadotropic-hypogonadism
#20
Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A Dwyer
BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process...
March 20, 2017: Orphanet Journal of Rare Diseases
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