Rare diseases and orphan drugs: 500 years ago.

abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...

journal_title：Orphanet journal of rare diseases

authors： Pauli RM

更新日期：2019-01-03 00:00:00

abstract：BACKGROUND:Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare disease, characterized by the massive accumulation of triglyceride (TG) in multiple tissues, especially skeletal muscle, heart muscle and the coronary artery. TGCV is caused by mutation of adipose triglyceride lipase, which is an essential molecule ...

journal_title：Orphanet journal of rare diseases

authors： Hara Y,Kawasaki N,Hirano K,Hashimoto Y,Adachi J,Watanabe S,Tomonaga T

更新日期：2013-12-21 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：:Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD ra...

journal_title：Orphanet journal of rare diseases

authors： Brancati F,Dallapiccola B,Valente EM

更新日期：2010-07-08 00:00:00

abstract：PURPOSE:Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in...

journal_title：Orphanet journal of rare diseases

authors： Paquin RS,Fischer R,Mansfield C,Mange B,Beaverson K,Ganot A,Martin AS,Morris C,Rensch C,Ricotti V,Russo LJ,Sadosky A,Smith EC,Peay HL

更新日期：2019-05-09 00:00:00

abstract：BACKGROUND:Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two gene...

journal_title：Orphanet journal of rare diseases

authors： Beech CM,Liyanarachchi S,Shah NP,Sturm AC,Sadiq MF,de la Chapelle A,Tanner SM

更新日期：2011-11-13 00:00:00

abstract：BACKGROUND:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...

journal_title：Orphanet journal of rare diseases

authors： Boëlle PY,Viviani L,Busson PF,Olesen HV,Ravilly S,Stern M,Assael BM,Barreto C,Drevinek P,Thomas M,Krivec U,Mei-Zahav M,Vibert JF,Clement A,Mehta A,Corvol H,French CF Modifier Gene Study Investigators.,European CF Regist

更新日期：2012-09-07 00:00:00

abstract：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...

journal_title：Orphanet journal of rare diseases

authors： Forsey JT,Elmasry OA,Martin RP

更新日期：2009-07-10 00:00:00

abstract：BACKGROUND:Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence regarding AEs that are associated with PNAs, we used commercial data to assess AE rates, AE-related he...

journal_title：Orphanet journal of rare diseases

authors： Epperla N,Pavilack M,Olufade T,Bashyal R,Li J,Kabadi SM,Yuce H,Andritsos L

更新日期：2020-02-13 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patient...

journal_title：Orphanet journal of rare diseases

authors： Yang A,Kim J,Cho SY,Jin DK

更新日期：2017-08-30 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:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 00:00:00

abstract：BACKGROUND:Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sapropterin in the European Union was extended in 2015 to include patients aged 0-4 years, bringing th...

journal_title：Orphanet journal of rare diseases

authors： Muntau AC,du Moulin M,Feillet F

更新日期：2018-09-29 00:00:00

abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting withi...

journal_title：Orphanet journal of rare diseases

authors： Rush ET

更新日期：2018-07-16 00:00:00

abstract：BACKGROUND:X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads t...

journal_title：Orphanet journal of rare diseases

authors： Padidela R,Nilsson O,Makitie O,Beck-Nielsen S,Ariceta G,Schnabel D,Brandi ML,Boot A,Levtchenko E,Smyth M,Jandhyala R,Mughal Z

更新日期：2020-06-30 00:00:00

abstract：:Cost-containment in healthcare spending has become a central issue in public policy and healthcare reform, especially as the affordable care act adds millions of people to public and private insurance rolls. In this climate, longstanding criticism of pharmaceutical pricing has grown sharper, and many in both policy an...

journal_title：Orphanet journal of rare diseases

authors： Stella P,Gold-von Simson G

更新日期：2014-10-28 00:00:00

abstract：BACKGROUND:We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly, dysostosis, osteopeni...

journal_title：Orphanet journal of rare diseases

authors： Stockler S,Corvera S,Lambright D,Fogarty K,Nosova E,Leonard D,Steinfeld R,Ackerley C,Shyr C,Au N,Selby K,van Allen M,Vallance H,Wevers R,Watkins D,Rosenblatt D,Ross CJ,Conibear E,Wasserman W,van Karnebeek C

更新日期：2014-09-20 00:00:00

abstract：BACKGROUND:Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AN...

journal_title：Orphanet journal of rare diseases

authors： Chow YP,Abdul Murad NA,Mohd Rani Z,Khoo JS,Chong PS,Wu LL,Jamal R

更新日期：2017-02-21 00:00:00

abstract：BACKGROUND:The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS:Here, we report on a subject who pr...

journal_title：Orphanet journal of rare diseases

authors： Vantroys E,Smet J,Vanlander AV,Vergult S,De Bruyne R,Roels F,Stepman H,Roeyers H,Menten B,Van Coster R

更新日期：2018-05-21 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...

journal_title：Orphanet journal of rare diseases

authors： Trefz KF,Muntau AC,Kohlscheen KM,Altevers J,Jacob C,Braun S,Greiner W,Jha A,Jain M,Alvarez I,Lane P,Schröder C,Rutsch F

更新日期：2019-07-22 00:00:00

abstract：:Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same gro...

journal_title：Orphanet journal of rare diseases

authors： Touitou I,Galeotti C,Rossi-Semerano L,Hentgen V,Piram M,Koné-Paut I,CeRéMAI, French reference center for autoinflammatory diseases.

更新日期：2013-10-16 00:00:00

abstract：BACKGROUND:Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and de...

journal_title：Orphanet journal of rare diseases

authors： Curie A,Touil N,Gaillard S,Galanaud D,Leboucq N,Deschênes G,Morin D,Abad F,Luauté J,Bodenan E,Roche L,Acquaviva C,Vianey-Saban C,Cochat P,Cotton F,Bertholet-Thomas A

更新日期：2020-02-26 00:00:00

abstract：BACKGROUND:Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. C...

journal_title：Orphanet journal of rare diseases

authors： Giraud S,Bardel C,Dupuis-Girod S,Carette MF,Gilbert-Dussardier B,Riviere S,Saurin JC,Eyries M,Patri S,Decullier E,Calender A,Lesca G

更新日期：2020-09-22 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：BACKGROUND:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...

journal_title：Orphanet journal of rare diseases

authors： Brantly M,Campos M,Davis AM,D'Armiento J,Goodman K,Hanna K,O'Day M,Queenan J,Sandhaus R,Stoller J,Strange C,Teckman J,Wanner A

更新日期：2020-04-19 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 00:00:00

abstract：:Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis...

journal_title：Orphanet journal of rare diseases

authors： Levitt MA,Peña A

更新日期：2007-07-26 00:00:00

abstract：BACKGROUND:Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological...

journal_title：Orphanet journal of rare diseases

authors： Nabbout R,Chemaly N,Chipaux M,Barcia G,Bouis C,Dubouch C,Leunen D,Jambaqué I,Dulac O,Dellatolas G,Chiron C

更新日期：2013-11-13 00:00:00

abstract：BACKGROUND:Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS:The patients were evalu...

journal_title：Orphanet journal of rare diseases

authors： Power B,Ferreira CR,Chen D,Zein WM,O'Brien KJ,Introne WJ,Stephen J,Gahl WA,Huizing M,Malicdan MCV,Adams DR,Gochuico BR

更新日期：2019-02-21 00:00:00