Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt and Yuji Sato Tags: Research Source Type: research
Adherence to medical treatment for Wilson ’s disease in children and adolescents: a cohort study from Turkey
This study aimed to assess medication adherence and demographic, clinical, and psychopathological parameters such as quality of life, depression, and anxiety levels that can affect pediatrics with Wilson ’s Dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Mehmet Akif G öktaş and Nadir Yalcin Tags: Research Source Type: research
Crigler-Najjar syndrome: looking to the future does not make us forget the present
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-ter... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Fabiola Di Dato, Giuseppe D ’Uonno and Raffaele Iorio Tags: Letter to the Editor Source Type: research
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSN... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 6, 2024 Category: Internal Medicine Authors: Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu and Ningdong Li Tags: Research Source Type: research
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 5, 2024 Category: Internal Medicine Authors: Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran and Suzhen Ran Tags: Research Source Type: research
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study ’s purpose was to measure the r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 4, 2024 Category: Internal Medicine Authors: Joana Poejo, Ana Isabel Gomes, Pedro Granjo and Vanessa dos Reis Ferreira Tags: Research Source Type: research
The health-care utilization and economic burden in patients with genetic skeletal disorders
Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The stud... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 4, 2024 Category: Internal Medicine Authors: Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang and Chao Xu Tags: Research Source Type: research
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 2, 2024 Category: Internal Medicine Authors: Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout Tags: Position statement Source Type: research
Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 2, 2024 Category: Internal Medicine Authors: Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen and Herng-Ching Lin Tags: Research Source Type: research
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone and Antonella Lo Mauro Tags: Research Source Type: research
Pragmatic skills in people with Williams syndrome: the perception of families
One of the most challenging linguistic areas in people with Williams Syndrome throughout their evolutionary stage is the development of pragmatic skills. The research conducted so far highlights specific probl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Esther Moraleda Sep úlveda and Patricia López Resa Tags: Research Source Type: research
Cost-of-illness studies of inherited retinal diseases: a systematic review
While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of dat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 29, 2024 Category: Internal Medicine Authors: Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang and Gerald Choon Huat Koh Tags: Review Source Type: research
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. B... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 28, 2024 Category: Internal Medicine Authors: Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg and Ronen Spiegel Tags: Research Source Type: research
Trends in orphan medicinal products approvals in the European Union between 2010 –2022
Over the last twenty years of orphan drug regulation in Europe, the regulatory framework has increased its complexity, with different regulatory paths and tools engineered to facilitate the innovation and acce... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2024 Category: Internal Medicine Authors: Lu ísa Bouwman, Bruno Sepodes, Hubert Leufkens and Carla Torre Tags: Research Source Type: research
Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being
Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare d... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2024 Category: Internal Medicine Authors: Leisha Devisetti Tags: Letter to the Editor Source Type: research
