Pharmaceutical pricing, cost containment and new treatments for rare diseases in children.

abstract：BACKGROUND:Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2. This mutation causes ...

journal_title：Orphanet journal of rare diseases

authors： Kou S,De Cunto C,Baujat G,Wentworth KL,Grogan DR,Brown MA,Di Rocco M,Keen R,Al Mukaddam M,le Quan Sang KH,Masharani U,Kaplan FS,Pignolo RJ,Hsiao EC

更新日期：2020-07-29 00:00:00

abstract：BACKGROUND:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...

journal_title：Orphanet journal of rare diseases

authors： Li Y,Liang J,Xu X,Jiang X,Wang C,Chen S,Xiang B,Ji Y

更新日期：2021-01-26 00:00:00

abstract：BACKGROUND:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10...

journal_title：Orphanet journal of rare diseases

authors： Ravn K,Roende G,Duno M,Fuglsang K,Eiklid KL,Tümer Z,Nielsen JB,Skjeldal OH

更新日期：2011-08-30 00:00:00

abstract：:Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the find...

journal_title：Orphanet journal of rare diseases

authors： Zimran A,Wajnrajch M,Hernandez B,Pastores GM

更新日期：2018-02-23 00:00:00

abstract：:Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 bir...

journal_title：Orphanet journal of rare diseases

authors： Davit-Spraul A,Gonzales E,Baussan C,Jacquemin E

更新日期：2009-01-08 00:00:00

abstract：BACKGROUND:In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patie...

journal_title：Orphanet journal of rare diseases

authors： Hsu TR,Sung SH,Chang FP,Yang CF,Liu HC,Lin HY,Huang CK,Gao HJ,Huang YH,Liao HC,Lee PC,Yang AH,Chiang CC,Lin CY,Yu WC,Niu DM

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA ...

journal_title：Orphanet journal of rare diseases

authors： Clayton-Smith J,Bromley R,Dean J,Journel H,Odent S,Wood A,Williams J,Cuthbert V,Hackett L,Aslam N,Malm H,James G,Westbom L,Day R,Ladusans E,Jackson A,Bruce I,Walker R,Sidhu S,Dyer C,Ashworth J,Hindley D,Diaz G

更新日期：2019-07-19 00:00:00

abstract：BACKGROUND:PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS:Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 ...

journal_title：Orphanet journal of rare diseases

authors： Bar C,Diene G,Molinas C,Bieth E,Casper C,Tauber M

更新日期：2017-06-28 00:00:00

abstract：:Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or ...

journal_title：Orphanet journal of rare diseases

authors： Ruemmele FM,Schmitz J,Goulet O

更新日期：2006-06-26 00:00:00

abstract：BACKGROUND:Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap,...

journal_title：Orphanet journal of rare diseases

authors： Iwata H,Vorobyev A,Koga H,Recke A,Zillikens D,Prost-Squarcioni C,Ishii N,Hashimoto T,Ludwig RJ

更新日期：2018-09-04 00:00:00

abstract：:Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clini...

journal_title：Orphanet journal of rare diseases

authors： Morgan NV,Hartley JL,Setchell KD,Simpson MA,Brown R,Tee L,Kirkham S,Pasha S,Trembath RC,Maher ER,Gissen P,Kelly DA

更新日期：2013-05-16 00:00:00

abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...

journal_title：Orphanet journal of rare diseases

authors： Robert F,Desroches-Castan A,Bailly S,Dupuis-Girod S,Feige JJ

更新日期：2020-01-07 00:00:00

abstract：BACKGROUND:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...

journal_title：Orphanet journal of rare diseases

authors： Serrano M,de Diego V,Muchart J,Cuadras D,Felipe A,Macaya A,Velázquez R,Poo MP,Fons C,O'Callaghan MM,García-Cazorla A,Boix C,Robles B,Carratalá F,Girós M,Briones P,Gort L,Artuch R,Pérez-Cerdá C,Jaeken J,Pérez B,P

更新日期：2015-10-26 00:00:00

abstract：: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...

journal_title：Orphanet journal of rare diseases

authors： Yan JK,Zhou KJ,Huang JH,Wu QQ,Zhang T,Wang CC,Cai W

更新日期：2017-03-28 00:00:00

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:The activation of plasma enzyme systems contributes to hereditary angioedema attacks. We aimed to study the activation markers of the fibrinolytic, coagulation, and contact systems in a larger number of paired samples obtained from the same C1-INH-HAE patients in symptom-free periods and during attacks. MET...

journal_title：Orphanet journal of rare diseases

authors： Csuka D,Veszeli N,Imreh É,Zotter Z,Skopál J,Prohászka Z,Varga L,Farkas H

更新日期：2015-10-09 00:00:00

abstract：BACKGROUND:McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manif...

journal_title：Orphanet journal of rare diseases

authors： Cho EK,Kim J,Yang A,Ki CS,Lee JE,Cho SY,Jin DK

更新日期：2016-08-09 00:00:00

abstract：BACKGROUND:Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the metabolism of branched-chain amino acids. Recently, t...

journal_title：Orphanet journal of rare diseases

authors： Ferdinandusse S,Friederich MW,Burlina A,Ruiter JP,Coughlin CR 2nd,Dishop MK,Gallagher RC,Bedoyan JK,Vaz FM,Waterham HR,Gowan K,Chatfield K,Bloom K,Bennett MJ,Elpeleg O,Van Hove JL,Wanders RJ

更新日期：2015-06-18 00:00:00

abstract：BACKGROUND:Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified ge...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Al-Jasmi F,Al-Shamsi AM,Ali BR,Al-Gazali L

更新日期：2013-06-17 00:00:00

abstract：BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In a...

journal_title：Orphanet journal of rare diseases

authors： Harafuji N,Schneiderat P,Walter MC,Chen YW

更新日期：2013-04-05 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. METHODS:A four step approach was designed. Firstly, a systematic literature review was conduct...

journal_title：Orphanet journal of rare diseases

authors： Kolasa K,Zwolinski KM,Kalo Z,Hermanowski T

更新日期：2016-03-10 00:00:00

abstract：BACKGROUND:Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 differe...

journal_title：Orphanet journal of rare diseases

authors： Zhytnik L,Simm K,Salumets A,Peters M,Märtson A,Maasalu K

更新日期：2020-05-27 00:00:00

abstract：UNLABELLED:DEFINITION AND CLINICAL PICTURE: We propose the minimal definition of Dercum's disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum's disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, di...

journal_title：Orphanet journal of rare diseases

authors： Hansson E,Svensson H,Brorson H

更新日期：2012-04-30 00:00:00

abstract：INTRODUCTION:In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and d...

journal_title：Orphanet journal of rare diseases

authors： Wagner A,Brucker SY,Ueding E,Gröber-Grätz D,Simoes E,Rall K,Kronenthaler A,Schäffeler N,Rieger MA

更新日期：2016-11-16 00:00:00

abstract：:China is facing the great challenge of serving the world's largest rare disease population. It is necessary to develop a specific medical plan to increase the levels of optimal prevention, diagnosis and treatment of rare diseases under the existing clinical service structures in China. In 2013, China launched its firs...

journal_title：Orphanet journal of rare diseases

authors： Cui Y,Zhou X,Han J

更新日期：2014-01-27 00:00:00

abstract：:Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. In this article, we describe how the Duchenne muscular dystrophy community-led by...

journal_title：Orphanet journal of rare diseases

authors： Furlong P,Bridges JF,Charnas L,Fallon JR,Fischer R,Flanigan KM,Franson TR,Gulati N,McDonald C,Peay H,Sweeney HL

更新日期：2015-06-24 00:00:00

abstract：BACKGROUND:Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management s...

journal_title：Orphanet journal of rare diseases

authors： Abdelhakim M,McMurray E,Syed AR,Kafkas S,Kamau AA,Schofield PN,Hoehndorf R

更新日期：2020-06-11 00:00:00

abstract：BACKGROUND:Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of...

journal_title：Orphanet journal of rare diseases

authors： Magill L,Laemmer C,Woelfle J,Fimmers R,Gohlke B

更新日期：2020-10-12 00:00:00

abstract：BACKGROUND:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...

journal_title：Orphanet journal of rare diseases

authors： Peter F,Rost S,Rolfs A,Frech MJ

更新日期：2017-08-25 00:00:00