Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 24, 2024 Category: Internal Medicine Authors: Emmanuelle Salort-Campana, Guilhem Sol é, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat Tags: Research Source Type: research
Safety and efficacy of ketorolac continuous infusion for multimodal analgesia of vaso-occlusive crisis in patients with sickle cell disease
Pain is an hallmark of sickle-cell-related acute clinical manifestations as part of acute vaso-occlusive crisis (VOC). In SCD pain has different origins such as vascular or neuropathic pain, which requires mul... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 22, 2024 Category: Internal Medicine Authors: Valeria Maria Pinto, Barbara Gianesin, Salvatore Sardo, Filippo Mazzi, Giammarco Baiardi, Sofia Menotti, Fabio Piras, Sabrina Quintino, Giacomo Robello, Francesca Mattioli, Gabriele Finco, Gian Luca Forni and Lucia De Franceschi Tags: Letter to the Editor Source Type: research
Developing a community-led rare disease ELSI research agenda
Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disea... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 22, 2024 Category: Internal Medicine Authors: Courtney Berrios, Macy McBeth, Andrea Bradley-Ewing, Nikolaus Schuetz, Annette Campbell, Zohreh Talebizadeh, Jeremy R. Garrett, Tamara Falicov, Francisco Martinez and Emily A. Hurley Tags: Review Source Type: research
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 20, 2024 Category: Internal Medicine Authors: Marit Schwantje, Sarah C. Gr ünert and Sabine A. Fuchs Tags: Research Source Type: research
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is ch... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 20, 2024 Category: Internal Medicine Authors: Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, Mar ía Miguélez and Cristina Cuerda Tags: Review Source Type: research
Comparative effectiveness and safety of intravenous methylprednisolone and tacrolimus monotherapy in ocular myasthenia gravis with unsatisfactory prednisone responses: a retrospective study
Oral prednisone has been recognized as the first-line therapy for the treatment of ocular myasthenia gravis (OMG). However, its long-term use is complicated by numerous adverse effects and is ineffective for s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 19, 2024 Category: Internal Medicine Authors: Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu and Huan Yang Tags: Research Source Type: research
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients repres... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 18, 2024 Category: Internal Medicine Authors: Micha ł Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec and Jaros Tags: Position statement Source Type: research
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder of monoamine neurotransmitter synthesis that presents with a range of symptoms, including motor dysfunction and limited attainment ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 18, 2024 Category: Internal Medicine Authors: Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. Poulin III, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei and Wuh-Liang Hwu Tags: Position statement Source Type: research
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system
Vascular anomalies (VAs) are rare congenital disorders that can cause pain, disfigurement, coagulopathy, asymmetric growth, and disability. Patients with complex VAs experience multiple barriers to accessing e... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 18, 2024 Category: Internal Medicine Authors: Bryan Sisk, Sunny Lin and Anna M. Kerr Tags: Research Source Type: research
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer fla... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 14, 2024 Category: Internal Medicine Authors: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovco Tags: Research Source Type: research
Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease
Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many rare diseases, the primary endpoint is not standardized across tri... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 12, 2024 Category: Internal Medicine Authors: Matthias Boentert, Kenneth I. Berger, Jordi D íaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak and J. Jaime Caro Tags: Research Source Type: research
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease
Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 11, 2024 Category: Internal Medicine Authors: Simona D ’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes and Uma Ramaswami Tags: Research Source Type: research
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 5, 2024 Category: Internal Medicine Authors: Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara and Norio Sakai Tags: Research Source Type: research
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse excipient tolerability in patients with HFI and other related diseases and... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 5, 2024 Category: Internal Medicine Authors: Elsa Izquierdo-Garc ía, Andrea Lázaro-Cebas, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra and Ismael Escobar-Rodríguez Tags: Research Source Type: research
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene (COL3A1). The disease is characterized by tissue friability and age-related suscept... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 5, 2024 Category: Internal Medicine Authors: Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr and Erik D. Foehr Tags: Research Source Type: research
