Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany
Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 25, 2023 Category: Internal Medicine Authors: Katja C. Senn, Simone Thiele, Karsten Kummer, Maggie C. Walter and Klaus H. Nagels Tags: Research Source Type: research
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
This study aims to evaluate the diagnostic yield of sonog... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 25, 2023 Category: Internal Medicine Authors: Wanlu Liu, Jing Cao, Xinwei Shi, Yuqi Li, Fuyuan Qiao and Yuanyuan Wu Tags: Research Source Type: research
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome
22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes includi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 24, 2023 Category: Internal Medicine Authors: Woosub Shin, Martina Kutmon, Eleni Mina, Therese van Amelsvoort, Chris T Evelo and Friederike Ehrhart Tags: Research Source Type: research
Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS
The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic cel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 23, 2023 Category: Internal Medicine Authors: Anna Woestemeier, Alexander Semaan, Andreas Block, Jan Arensmeyer, Jonas Dohmen, Alexander Kania, Frauke Verrel, Martin M ücke, Jörg C. Kalff and Philipp Lingohr Tags: Research Source Type: research
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 21, 2023 Category: Internal Medicine Authors: Ale š Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco and Derralynn Hughes Tags: Research Source Type: research
Does the registry speak your language? A case study of the Global Angelman Syndrome Registry
Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2023 Category: Internal Medicine Authors: Megan Tones, Nikolajs Zeps, Yvette Wyborn, Adam Smith, Roberto A. Barrero, Helen Heussler, Meagan Cross, James McGree and Matthew Bellgard Tags: Letter to the Editor Source Type: research
Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2023 Category: Internal Medicine Authors: Lucia Mas árová, Roman Panovský, Martin Pešl, Luz Mojica-Pisciotti Mary, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil and Věra Feitová Tags: Correction Source Type: research
Congenital disorders of glycosylation (CDG): state of the art in 2022
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2023 Category: Internal Medicine Authors: Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira and Vanessa dos Reis Ferreira Tags: Review Source Type: research
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility
The purpose of this study was twofold: (i) To assess the parents ’ experiences and perception of participating in a “Parental Intervention Program for Preschool children with Rare Diseases” (PIPP-RDs). (ii) To ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 17, 2023 Category: Internal Medicine Authors: Gry Velvin, Vigdis Johnsen, Ingeborg Beate Lidal and Ellen Berg Tags: Research Source Type: research
Patient pathways for rare diseases in Europe: ataxia as an example
This study explored the patient pathways of individuals attending spec... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 17, 2023 Category: Internal Medicine Authors: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris and Paola Giunti Tags: Research Source Type: research
First-line nivolumab plus ipilimumab for unresectable MPM in China: a cost-effectiveness analysis
The regimen of nivolumab plus ipilimumab (NI) has been recommended by the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology-Malignant Pleural Mesothelioma (Version 1.2022) and Chin... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 16, 2023 Category: Internal Medicine Authors: Liu Yang, Xiaobing Song, Wanxian Zeng, Zhiwei Zheng and Wenqiang Lin Tags: Research Source Type: research
Current trials in erythropoietic protoporphyria: are placebo controls ethical?
A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 16, 2023 Category: Internal Medicine Authors: Jasmin Barman-Aks özen, Mattia Andreoletti and Alessandro Blasimme Tags: Position statement Source Type: research
The Tuscany Regional Network for rare diseases: from European Reference Networks ’ experience to registry based organisation and management model for rare diseases
In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the E... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 13, 2023 Category: Internal Medicine Authors: Federica Pieroni, Sonia Marrucci, Linda Di Pietro, Cecilia Berni and Cristina Scaletti Tags: Research Source Type: research
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores
Generalized pairwise comparisons (GPC) can be used to assess the net benefit of new treatments for rare diseases. We show the potential of GPC through simulations based on data from a natural history study in ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2023 Category: Internal Medicine Authors: Vaiva Deltuvaite-Thomas, Micka ël De Backer, Samantha Parker, Marie Deneux, Lynda E. Polgreen, Cara O’Neill, Samuel Salvaggio and Marc Buyse Tags: Research Source Type: research
Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease
Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2023 Category: Internal Medicine Authors: Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson and Ana Jovanovic Tags: Review Source Type: research
