Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other d... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 19, 2024 Category: Internal Medicine Authors: Anika Varma, Jennifer Weinstein, Jamison Seabury, Spencer Rosero, Nuran Dilek, John Heatwole, Charlotte Engebrecht, Shaweta Khosa, Kaitlin Chung, Asif Paker, Amy Woo, Gregory Brooks, Chan Beals, Rohan Gandhi and Chad Heatwole Tags: Research Source Type: research
The parent and family impact of CLN3 disease: an observational survey-based study
CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 18, 2024 Category: Internal Medicine Authors: Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer and Erika F. Augustine Tags: Research Source Type: research
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study
In many countries, nitrous oxide is used in a gas mixture (EMONO) for short-term analgesia. Cases of addiction, with significant misuse, have been reported in hospitalized patients. Patients suffering from sic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 18, 2024 Category: Internal Medicine Authors: Marie G érardin, Morgane Rousselet, Marie-Laure Couec, Agathe Masseau, Aurélie Aquizerate, Nicolas Authier, Sylvie Deheul, Anne Roussin, Joelle Micallef, Samira Djezzar, Fanny Feuillet, Pascale Jolliet, Marie Grall-Bronnec and Caroline Victorri-Vigneau Tags: Research Source Type: research
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region
The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patie... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 14, 2024 Category: Internal Medicine Authors: Wendy Wagner, Tom A. Doyle, Clair A. Francomano, Dacre R. T. Knight and Colin M. E. Halverson Tags: Research Source Type: research
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 14, 2024 Category: Internal Medicine Authors: Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng & hellip; Tags: Research Source Type: research
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumours, as well as the heterogeneity of histologies and anatomical subsites, there is little... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis and F Haubner Tags: Research Source Type: research
De novo variants of IRF2BPL result in developmental epileptic disorder
Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang and Shan Chen Tags: Research Source Type: research
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complicatio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Tags: Research Source Type: research
The impact of amplification on quality of life in women with Turner syndrome
Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early conductive, and progressive sensorineural hearing loss amid other healthcare ne... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Lauren Mann and Lindsey VanLooy Tags: Research Source Type: research
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholineste... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad and Shahriar Nafissi Tags: Research Source Type: research
Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1
Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effecti... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Danielle M. Glad, Sara K. Pardej, Ellen Olszewski and Bonita P. Klein-Tasman Tags: Research Source Type: research
A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases
Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee and Vanja Sikirica Tags: Review Source Type: research
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry
Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 11, 2024 Category: Internal Medicine Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry and Siddharth K Prakash Tags: Research Source Type: research
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2024 Category: Internal Medicine Authors: Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano and David Alexanderian Tags: Research Source Type: research
Neurobehavioral and developmental profiles: genotype –phenotype correlations in individuals with Cornelia de Lange syndrome
Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype –phenotype associat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2024 Category: Internal Medicine Authors: Rowena Ng, Julia O ’Connor, Deirdre Summa and Antonie D. Kline Tags: Research Source Type: research
