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Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-14 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, Yun Yuan
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 complicated. We aimed to investigate whether DMD missense variants would cause aberrant splicing and re-interpret their pathogenicity based on mRNA and protein studies. Nine unrelated patients who
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Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-14 Wendy Wagner, Tom A. Doyle, Clair A. Francomano, Dacre R. T. Knight, Colin M. E. Halverson
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 patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland
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De novo variants of IRF2BPL result in developmental epileptic disorder Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-13 Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Shan Chen
Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL in neurodevelopmental disorders in zebrafish. The clinical and genetic characteristics of three patients with neurodevelopmental
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Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-13 Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis, F Haubner
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 evidence regarding the rate and location of regional metastases in sinonasal malignancies. Elective regional lymph node dissection in the therapy of sinonasal malignancies has become controversial
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The impact of amplification on quality of life in women with Turner syndrome Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-13 Lauren Mann, Lindsey VanLooy
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 needs. Hearing loss is self-identified as one of the largest unmet healthcare needs. The purpose of this study was to investigate the impact of treatment for hearing loss on communication confidence
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Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-13 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, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb
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 complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment. CGL was diagnosed
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A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-12 Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee, Vanja Sikirica
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 systematic review evaluated the use of RWD for non-oncologic RD therapies with orphan drug designation (ODD) to support efficacy outcomes in regulatory application packages to the US Food and Drug Administration
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Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-12 Yazhao Mei, Yunyi Jiang, Li Shen, Zheying Meng, Zhenlin Zhang, Hao Zhang
Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the characteristics, prevalence and correlation of echocardiographic abnormalities and joint hypermobility in Chinese patients with OI. A cross-sectional comparative study was conducted in pediatric and
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Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1 Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-12 Danielle M. Glad, Sara K. Pardej, Ellen Olszewski, Bonita P. Klein-Tasman
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 effectiveness of a 14-week telehealth PEERS® intervention with nineteen adolescents with NF1 (Mage=13.79 years, SD = 1.32) with social skills difficulties was examined. Measures of social outcomes were
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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-12 Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner
In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected
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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-12 Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
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 acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis
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Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-11 Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry, Siddharth K Prakash
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 approach to healthcare and research. In 2015, the Turner Syndrome Society of the United States (TSSUS) created the Turner Syndrome Research Registry (TSRR) to engage directly with community participants
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Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-10 Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
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 associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants. This study aimed to examine and compare neurobehavioral
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Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-10 Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano, David Alexanderian
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 treatment of MPS II is enzyme replacement therapy with intravenous recombinant human iduronate-2-sulfatase (idursulfase). To target cognitive manifestations of MPS II, idursulfase has been formulated
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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-08 Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir
Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental issues, contributing to decreased health-related quality of life (HRQoL). HPP may be treated with the enzyme replacement therapy asfotase alfa though real-world
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The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-08 Amira Ahmed Elfituri, Manuel Joaquín De Nova, Mohammadamin Najirad
Osteogenesis imperfecta (OI) affects dental and craniofacial development; therefore, it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of the severity of OI on OHRQoL in adults older than eighteen years residing in Spain. Adults with OI were recruited from the Spanish Association of Crystal Bone (AHUCE) foundation. OHRQoL was evaluated
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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-08 Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort
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Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-08 Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder, Hagen Sjard Bachmann
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline
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Adherence to medical treatment for Wilson’s disease in children and adolescents: a cohort study from Turkey Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-07 Mehmet Akif Göktaş, Nadir Yalcin
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 Disease (WD). A prospective cohort study was conducted at an outpatient clinic in Turkey among pediatric patients (2 to 18 years) with WD between November 2022 and April 2023. The Medication Adherence
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Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-07 Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
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-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers’ experiences
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Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1 Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-07 Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi, Wenhua Zhu, Song Tan, Fuchen Liu, Jiahong Lu, Chongbo Zhao, Sushan Luo
As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical characteristics of Chinese Han DM1 patients. Based on the multicenter collaborating effort of the Pan-Yangtze River Delta Alliance for Neuromuscular Disorders, patients with suspected clinical diagnoses
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Crigler-Najjar syndrome: looking to the future does not make us forget the present Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-07 Fabiola Di Dato, Giuseppe D’Uonno, Raffaele Iorio
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-term efficacy and safety. Furthermore, there is a risk of overlooking several unresolved problems still present in current clinical practice. This letter is a call for action on crucial open issues
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Clinical and genetic studies for a cohort of patients with congenital stationary night blindness Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-06 Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu, Ningdong Li
Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause. Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes
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Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-05 Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran, Suzhen Ran
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 series. Its hemodynamic impact remains unclear. The aim of this study was to evaluate the hemodynamic changes and perinatal outcome in UAT fetuses with a relatively large sample. We included singleton
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The health-care utilization and economic burden in patients with genetic skeletal disorders Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-04 Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang, Chao Xu
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 study aimed to systematically evaluate the health-care utilization and economic burden in GSD patients. The patients were derived from 2018 Nationwide Inpatient Sample and Nationwide Readmissions
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Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS) Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-04 Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira
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 resilience levels of patients and family caregivers living with CDG using the brief resilience coping scale. We conducted an observational, cross-sectional study with 23 patients and 151 family
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Increased prevalence of peripheral vestibular disorder among patients with Fabry disease Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-02 Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin
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 peripheral vestibular disorder in patients with Fabry disease compared to the general population without the condition. Due to the high prevalence of Fabry disease in East Asia and the potential
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Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-02 Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout
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 problems for small and finite populations have received less consideration. This paper describes the outline of the iSTORE project, its ambitions, and its methodological approaches. In very small
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Pragmatic skills in people with Williams syndrome: the perception of families Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-01 Esther Moraleda Sepúlveda, Patricia López Resa
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 problems concerning adaptation to the linguistic context and interlocutors, language comprehension, as well as other aspects interfering with verbal communication. However, until now, most scientific
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Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-03-01 Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone, Antonella Lo Mauro
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, cardiovascular, and gastrointestinal complications, especially in adulthood. All aspects that could benefit from dietary intervention. The aim of this study was to evaluate the effects of a 6-months
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Cost-of-illness studies of inherited retinal diseases: a systematic review Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-29 Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang, Gerald Choon Huat Koh
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 data can lead to underfunding or misallocation of resources. A comprehensive understanding of the COI of IRDs would assist governmental and healthcare leaders in determining optimal resource allocation
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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-28 Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
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. Biallelic pathogenic variants in NDUFAF2, encoding the nuclear assembly CI factor NDUFAF2, were initially reported to cause progressive encephalopathy beginning in infancy. Since the initial report
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Trends in orphan medicinal products approvals in the European Union between 2010–2022 Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-27 Luísa Bouwman, Bruno Sepodes, Hubert Leufkens, Carla Torre
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 accelerate approvals. Recently, the proposal of the new Pharmaceutical Legislation for the European Union, which will replace at least three Regulations and one Directive, was released and its new
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Updates on the role of epigenetics in familial mediterranean fever (FMF) Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-26 Ahlam Chaaban, Zeina Salman, Louna Karam, Philippe Hussein Kobeissy, José-Noel Ibrahim
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutations in the MEFV (MEditerranean FeVer) gene that affects people originating from the Mediterranean Sea. The high variability in severity and clinical manifestations observed not only between ethnic groups but also between and within families is mainly related to MEFV allelic heterogeneity and to some
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Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-26 S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt, R. F. Chin
Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessitating development of high-quality treatment guidelines. This targeted literature review (TLR) aimed to characterise country-specific and international treatment guidelines available for pharmacological
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Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-26 Leisha Devisetti
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 diseases, which can hinder the management of these chronic conditions. An analysis of my family’s experience battling my mother’s ameloblastic carcinoma highlights the difficulties in communicating
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Clinical efficacy of metformin in familial adenomatous polyposis and the effect of intestinal flora Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-25 Linxin Zhou, Linfu Zheng, Binbin Xu, Zhou Ye, Dazhou Li, Wen Wang
Metformin has been reported to inhibit the occurrence and development of colorectal cancer (CRC) by mediating changes in intestinal flora. Studies have also indicated that the occurence of familial adenomatous polyposis (FAP) may also be associated with changes in the intestinal flora. Therefore, we investigated the efficacy and safety of metformin in treating FAP and the association with intestinal
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The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-25 Sophie Thomas, Alexandra Morrison, Georgina Morton, Pat Roberts, Vivienne Clark, Jackie Imrie
Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the burden MLD places on patients and their families and the medical and social support these patients need. Three UK-based MLD patient organisations commissioned an online survey
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Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-25 Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu, Erika Torjusen
The Rare Pediatric Disease (RPD) Priority Review Voucher (PRV) Program was enacted in 2012 to support the development of new products for children. Prior to requesting a voucher, applicants can request RPD designation, which confirms their product treats or prevents a rare disease in which the serious manifestations primarily affect children. This study describes the trends and characteristics of these
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Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1 Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-24 Ana M. Cieza Rivera, Carlos Lobato Fuertes, Tania Fernández-Villa, Vicente Martín Sánchez, Isis Atallah
Neurofibromatosis type 1 (NF1) is one of the most common RASopathies predisposing affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden negatively affecting the patient’s quality of life (QoL). This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL. We identified NF1 patients from a public
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Hyperphagia and impulsivity: use of self-administered Dykens’ and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-23 Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou, Béatrice Dubern
The determinants of early-onset obesity (< 6 years) are not completely elucidated, however eating behavior has a central role. To date no study has explored eating behavior in children with severe, early-onset obesity. Self-administered questionnaire data from these children were examined to evaluate eating behavior and the etiology of early-onset obesity. Children with severe, early-onset obesity
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The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-23 Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins
Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-13. PWS features a complex behavioral phenotype, including hyperphagia, anxiety, compulsivity, rigidity, repetitive speech, temper outbursts, aggressivity, and skin-picking. Questionnaires exist for measuring hyperphagia, but not for the aggregation of
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Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-22 Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko
Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1. Many individuals affected by AATD are thought to be undiagnosed, leading to poor patient outcomes. The Z (c.1096G > A; p.Glu366Lys) and S (c.863A > T; p.Glu288Val) deficiency variants are the most frequently found variants
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The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-21 Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja, Giuseppe Turchetti
One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID–19 pandemic accelerated the healthcare sector’s digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded
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A systematic review on the birth prevalence of metachromatic leukodystrophy Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-21 Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó, Yola Moride
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are defined by symptom onset at ≤ 2.5, > 2.5 to < 16 and ≥ 16 years, respectively. Epidemiological data were sought to address knowledge gaps and to inform decisions
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The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-20 Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler
TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood. We developed and distributed a survey to two closed Facebook groups devoted to
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Phenylketonuria from the perspectives of patients in Türkiye Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-20 Merve Esgi, Hakan Ergun, Nazmi Yalcin Kaya, Deniz Yilmaz Atakay, Ege Erucar, Fatma Celik
The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and implementations on PKU. The study included patients diagnosed with PKU and/or their parents. They were informed about the study via phone calls and their verbal consents were obtained. Questions
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Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-19 Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter, Amy Hunter
Although individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life threatening and affect multiple body systems; the majority of them have no effective treatment. The literature has identified many specific challenges for those living with rare conditions, however, we do not know which of these in combination are most likely to impact
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RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-19 Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano
Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate
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Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-16 Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. Clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS were retrospectively analysed. Hepatomegaly (10/11), short stature (10/11) and hypophosphataemic rickets (7/11) were the most common
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Incidence and medical costs of lupus in Spanish hospitals: a retrospective database analysis Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-16 Josep Darba, Meritxell Ascanio, Ainoa Agüera
This study aimed to assess the comorbidity profile, use of healthcare resources and medical costs of patients with systemic lupus erythematosus (SLE) and cutaneous lupus erythematosus (CLE) treated at the hospital level in Spain. Admission records of patients with SLE and CLE that were registered between January 2016 and December 2020 were obtained from a Spanish hospital discharge database and analyzed
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Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-16 Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch, Murali Sundaram
To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (HRU), and economic burden of von Hippel-Lindau–associated central nervous system hemangioblastoma (VHL-CNS-Hb) and pancreatic neuroendocrine tumors (VHL-pNET) in the United States (US). Patients
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The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-16 Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and women equally. In this systematic review and meta-analysis, the PubMed, Embase, Web of Science, CNKI, CBM, and Wanfang databases were searched until 01/08/2023. Studies reporting sex distribution
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Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-16 Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani, Gabriel Chodick
Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The
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Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter? Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-15 Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, David Skuse, Claire Hughes, Kate Baker
Parents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and within parents over time. The underlying cause of a child’s condition can influence parents’ mental health, via uncertain pathways and within unknown time-windows. We analysed baseline data from the IMAGINE-ID cohort, comprising
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Psychotic illness in people with Prader–Willi syndrome: a systematic review of clinical presentation, course and phenomenology Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-15 Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland, Paul C. Fletcher
Prader–Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression occurs as a consequence of a deletion on the chromosome 15 of paternal origin (ca. 70%), a chromosome 15 maternal uniparental disomy (mUPD; ca. 25%), or an imprinting centre defect (IC; ca. 1–3%)
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Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-14 Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman, Sharon A. McGrath-Morrow
Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whether transcriptomic profiling of peripheral blood mononuclear cells (PBMCs) defines subsets of individuals with A-T beyond mild and classic phenotypes, enabling identification of novel features
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Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-14 Antonia Modelhart, Dominique Sturz, Lydia Kremslehner, Barbara Prainsack
Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses questions of how to best deal with the process of genetic diagnosis and the communication of genetic information within a given health system. We co-created a research design with rare disease patients
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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-14 Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe
The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. The registry has three-layered datasets, with European Commission-mandated
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Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review Orphanet J. Rare Dis. (IF 3.7) Pub Date : 2024-02-14 Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe, Bertrand Lioger
Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting