Patient reported outcome measures in rare diseases: a narrative review.

abstract：BACKGROUND:Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway wh...

journal_title：Orphanet journal of rare diseases

authors： Kjeldsen A,Aagaard KS,Tørring PM,Möller S,Green A

更新日期：2016-11-22 00:00:00

abstract：BACKGROUND:Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, espec...

journal_title：Orphanet journal of rare diseases

authors： Nakamura H,Kimura E,Mori-Yoshimura M,Komaki H,Matsuda Y,Goto K,Hayashi YK,Nishino I,Takeda S,Kawai M

更新日期：2013-04-19 00:00:00

abstract：BACKGROUND:The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS:Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal...

journal_title：Orphanet journal of rare diseases

authors： Desplantes C,Fremond ML,Beaupain B,Harousseau JL,Buzyn A,Pellier I,Roques G,Morville P,Paillard C,Bruneau J,Pinson L,Jeziorski E,Vannier JP,Picard C,Bellanger F,Romero N,de Pontual L,Lapillonne H,Lutz P,Chantelot CB

更新日期：2014-12-10 00:00:00

abstract：:In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publications, but also to ...

journal_title：Orphanet journal of rare diseases

authors： Trapnell BC,Luisetti M

更新日期：2013-09-30 00:00:00

abstract：:In 1581 Rembert Dodoens wrote "Medicinalium observationum exempla rara, recognita et aucta" a Latin book about the diagnosis and treatment of disorders with a low prevalence. ...

journal_title：Orphanet journal of rare diseases

authors： Dooms MM

更新日期：2015-12-21 00:00:00

abstract：:Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritanc...

journal_title：Orphanet journal of rare diseases

authors： Palau F,Espinós C

更新日期：2006-11-17 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：BACKGROUND:Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, den...

journal_title：Orphanet journal of rare diseases

authors： Satoh J,Motohashi N,Kino Y,Ishida T,Yagishita S,Jinnai K,Arai N,Nakamagoe K,Tamaoka A,Saito Y,Arima K

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND:For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to cl...

journal_title：Orphanet journal of rare diseases

authors： Tingley K,Coyle D,Graham ID,Chakraborty P,Wilson K,Potter BK,Canadian Inherited Metabolic Diseases Research Network.

更新日期：2021-01-12 00:00:00

abstract：BACKGROUND:Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factor...

journal_title：Orphanet journal of rare diseases

authors： Denger B,Kinnett K,Martin A,Grant S,Armstrong C,Khodyakov D

更新日期：2019-08-20 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: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：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：BACKGROUND:Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described ...

journal_title：Orphanet journal of rare diseases

authors： Lassuthova P,Sišková D,Haberlová J,Sakmaryová I,Filouš A,Seeman P

更新日期：2014-04-01 00:00:00

abstract：:Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine d...

journal_title：Orphanet journal of rare diseases

authors： Häberle J,Shahbeck N,Ibrahim K,Schmitt B,Scheer I,O'Gorman R,Chaudhry FA,Ben-Omran T

更新日期：2012-07-25 00:00:00

abstract：BACKGROUND:Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to fac...

journal_title：Orphanet journal of rare diseases

authors： Debladis J,Valette M,Strenilkov K,Mantoulan C,Thuilleaux D,Laurier V,Molinas C,Barone P,Tauber M

更新日期：2019-11-15 00:00:00

abstract：BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governme...

journal_title：Orphanet journal of rare diseases

authors： Choudhury MC,Saberwal G

更新日期：2019-11-04 00:00:00

abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...

journal_title：Orphanet journal of rare diseases

authors： Raluy-Callado M,Chen WH,Whiteman DA,Fang J,Wiklund I

更新日期：2013-07-10 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:Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, ...

journal_title：Orphanet journal of rare diseases

authors： Jones SA,Rojas-Caro S,Quinn AG,Friedman M,Marulkar S,Ezgu F,Zaki O,Gargus JJ,Hughes J,Plantaz D,Vara R,Eckert S,Arnoux JB,Brassier A,Le Quan Sang KH,Valayannopoulos V

更新日期：2017-02-08 00:00:00

abstract：BACKGROUND:Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with con...

journal_title：Orphanet journal of rare diseases

authors： Haskovic M,Derks B,van der Ploeg L,Trommelen J,Nyakayiru J,van Loon LJC,Mackinnon S,Yue WW,Peake RWA,Zha L,Demirbas D,Qi W,Huang X,Berry GT,Achten J,Bierau J,Rubio-Gozalbo ME,Coelho AI

更新日期：2018-11-26 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：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...

journal_title：Orphanet journal of rare diseases

authors： Aymé S,Rodwell C

更新日期：2014-02-28 00:00:00

abstract：BACKGROUND:Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Scl...

journal_title：Orphanet journal of rare diseases

authors： Sasongko TH,Ismail NF,Nik Abdul Malik NM,Zabidi-Hussin ZA

更新日期：2015-08-12 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:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor defi...

journal_title：Orphanet journal of rare diseases

authors： Cannet C,Pilotto A,Rocha JC,Schäfer H,Spraul M,Berg D,Nawroth P,Kasperk C,Gramer G,Haas D,Piel D,Kölker S,Hoffmann G,Freisinger P,Trefz F

更新日期：2020-02-27 00:00:00

abstract：BACKGROUND:Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum...

journal_title：Orphanet journal of rare diseases

authors： Park JH,Kim NK,Kim AR,Rhee J,Oh SH,Koo JW,Nam JY,Park WY,Choi BY

更新日期：2014-11-06 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：OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2...

journal_title：Orphanet journal of rare diseases

authors： Ditaranto R,Boriani G,Biffi M,Lorenzini M,Graziosi M,Ziacchi M,Pasquale F,Vitale G,Berardini A,Rinaldi R,Lattanzi G,Potena L,Martin Suarez S,Bacchi Reggiani ML,Rapezzi C,Biagini E

更新日期：2019-11-19 00:00:00

abstract：:Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investi...

journal_title：Orphanet journal of rare diseases

authors： Camdessanché JP,Belzil VV,Jousserand G,Rouleau GA,Créac'h C,Convers P,Antoine JC

更新日期：2011-02-05 00:00:00