Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study
Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi and Federico Pieruzzi Tags: Research Source Type: research
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone and Matteo Cioni Tags: Research Source Type: research
Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data
Amyotrophic lateral sclerosis (ALS) is an irreversible degenerative disease. Placebo-controlled randomized trials are currently the main trial design to assess the clinical efficacy of drugs for ALS treatment.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Ruifen Cai, Juan Yang, Lijuan Wu, Yixiao Liu, Xinrui Wang, Qingshan Zheng and Lujin Li Tags: Research Source Type: research
Cronkhite ‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of colonic polyps
Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary disease characterized by diffuse gastrointestinal polyposis and ectodermal abnormalities. Although it has been proposed to be a chronic inflammatory con... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2024 Category: Internal Medicine Authors: Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li and Ji Li Tags: Research Source Type: research
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinas... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2024 Category: Internal Medicine Authors: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe and Justin Hopkin Tags: Research Source Type: research
Rett syndrome in Ireland: a demographic study
Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals glob... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 31, 2024 Category: Internal Medicine Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes and Daniela Tropea Tags: Research Source Type: research
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorder... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2024 Category: Internal Medicine Authors: Anna Szoszkiewicz, Ewelina Bukowska-Olech and Aleksander Jamsheer Tags: Review Source Type: research
A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave
Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2024 Category: Internal Medicine Authors: Kathleen R. Bogart, Annelise Hartinger, Maggie Klaus and Elizabeth Jenkinson Tags: Research Source Type: research
Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature review
The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2024 Category: Internal Medicine Authors: Xiaowen Song and Zhi Li Tags: Research Source Type: research
Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies
The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastros... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2024 Category: Internal Medicine Authors: Silvia Baldacci, Michele Santoro, Lorena Mezzasalma, Anna Pierini and Alessio Coi Tags: Review Source Type: research
A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial
Approximately 50% of rare diseases have symptom onset during childhood. A high level of nursing care and an often uncertain prognosis put caregivers of the affected children at high risk for psychological dist... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 27, 2024 Category: Internal Medicine Authors: Dunja Tutus, Mandy Niemitz, Paul L. Plener, J örg M. Fegert, Christine Lehmann, Christa Weiss, Christine Knaevelsrud, Lisa Biehl and Miriam Rassenhofer Tags: Research Source Type: research
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 27, 2024 Category: Internal Medicine Authors: C éline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot and Ana Rath Tags: Research Source Type: research
Review of published 467 achondroplasia patients: clinical and mutational spectrum
Achondroplasia is the most common of the skeletal dysplasias that cause fatal and disabling growth and developmental disorders in children, and is caused by a mutation in the fibroblast growth factor receptor,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 27, 2024 Category: Internal Medicine Authors: XinZhong Zhang, Shan Jiang, Rui Zhang, Siyi Guo, Qiqi Sheng, Kaili Wang, Yuanyuan Shan, Lin Liao and Jianjun Dong Tags: Review Source Type: research
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 26, 2024 Category: Internal Medicine Authors: Ana Beatriz S ánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castille Tags: Research Source Type: research
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study
The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of dia... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 25, 2024 Category: Internal Medicine Authors: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov and Rumen Stefanov Tags: Research Source Type: research
