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Psychological processes in the experience of hereditary angioedema in adult patients: an observational study

Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda

Oral disorders in Children with Prader–Willi syndrome: a case control study

Authors: Sonal Lavakumar Budihal, Aya Mohammad Ahmad, Adama Sani Usman, Anusha Sreejith and Jayadevan Sreedharan

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases a...

Authors: Talarico Rosaria, Cannizzo Sara, Lorenzoni Valentina, Marinello Diana, Palla Ilaria, Pirri Salvatore, Ticciati Simone, Trieste Leopoldo, Triulzi Isotta, Terol Enrique, Bucher Anna and Turchetti Giuseppe

Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis

Rare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of phar...

Authors: Tim T. A. Bender, Judith Leyens, Julia Sellin, Dmitrij Kravchenko, Rupert Conrad, Martin Mücke and Matthias F. Seidel

Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China

For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that...

Authors: Dong Dong, Roger Yat-Nork Chung, Rufina H. W. Chan, Shiwei Gong and Richard Huan Xu

European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study

In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate ...

Authors: Ana Requena-Méndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon and Antoni Plasència

Rosai–Dorfman disease mimicking IgG4-related diseases: a single-center experience in China

Rosai–Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring...

Authors: Li Wang, Wei Li, Shangzhu Zhang, Linyi Peng, Min Shen, Shuoning Song, Wei Zhang, Xinxin Cao, Ruie Feng and Wen Zhang

The urgent need to empower rare disease organizations in China: an interview-based study

Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease repres...

Authors: Xuefeng Li, Zijuan Lu, Jianyong Zhang, Xiangyu Zhang, Shu Zhang, Jincheng Zhou, Bingzhe Li and Li Ou

Health technology assessment and reimbursement policy for oncology orphan drugs in Central and Eastern Europe

The reimbursement of orphan drugs (OD) is an increasingly important for country policymakers, and still insufficiently understood, especially in Central and Eastern Europe. The aim of this research was to prov...

Authors: Krzysztof Piotr Malinowski, Paweł Kawalec, Wojciech Trąbka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Draganić, Juraj Slabý, Agnes Männik, Kristóf Márky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar and Marian Sorin Paveliu

The natural course of hereditary angioedema in a Chinese cohort

Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and ...

Authors: Yang Cao, Shuang Liu and Yuxiang Zhi

FDA orphan products clinical trial grants: assessment of outcomes and impact on rare disease product development

The Office of Orphan Products Development (OOPD) of the United States (U.S.) Food and Drug Administration (FDA) has awarded over 700 grants to conduct clinical trials of medicals products for rare diseases sin...

Authors: Kathleen L. Miller, Christine Mueller, Gumei Liu, Katherine I. Miller Needleman and Janet Maynard

Impact of the therapeutic positioning report in the P&R process in Spain: analysis of orphan drugs approved by the European Commission and reimbursed in Spain from 2003 to 2019

Pricing and reimbursement decisions for orphan drugs are faced with differences access between European countries depending on each reimbursement policies, evaluation processes and timings. In 2013, the therap...

Authors: Xavier Badia, Tania Vico, John Shepherd, Alicia Gil, José Luis Poveda-Andrés and César Hernández

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of wor...

Authors: Lisa Belter, Rosángel Cruz and Jill Jarecki

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal second...

Authors: Morten Krogh Herlin, Michael Bjørn Petersen and Mats Brännström

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...

Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…

Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches

There is increasing recognition that conventional appraisal approaches may be unsuitable for assessing the value rare disease treatments (RDTs). This research examines what supplemental appraisal/reimbursement...

Authors: Elena Nicod, Amanda Whittal, Michael Drummond and Karen Facey

The use of machine learning in rare diseases: a scoping review

Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that in...

Authors: Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser and Sylvia Thun

Medical expenditure for patients with hemophilia in urban China: data from medical insurance information system from 2013 to 2015

Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar...

Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional stud...

Authors: Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier and Laurence Vaivre-Douret

To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases

Over the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, t...

Authors: Sally Lanar, Catherine Acquadro, James Seaton, Isabelle Savre and Benoit Arnould

TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases

Many treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to deliver benefit in an area of high unmet need. Their approval may be base...

Authors: Lieven Annemans and Amr Makady

Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients....

Authors: Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener...

Authors: Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories and Amets Sáenz

Diagnosis support systems for rare diseases: a scoping review

Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagn...

Authors: Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier and Anita Burgun

A roadmap to using historical controls in clinical trials – by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)

Historical controls (HCs) can be used for model parameter estimation at the study design phase, adaptation within a study, or supplementation or replacement of a control arm. Currently on the latter, there is ...

Authors: Mercedeh Ghadessi, Rui Tang, Joey Zhou, Rong Liu, Chenkun Wang, Kiichiro Toyoizumi, Chaoqun Mei, Lixia Zhang, C. Q. Deng and Robert A. Beckman

A civil society view of rare disease public policy in six Latin American countries

Patients with rare diseases across the world struggle to access timely diagnosis and state-of-the-art treatment and management of their conditions. Several recently published reviews highlight the importance o...

Authors: Mo Mayrides, Eva Maria Ruiz de Castilla and Silvina Szelepski

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and ortho...

Authors: Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale and Pierre Wolkenstein

Education and information needs for physicians about rare diseases in Spain

Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be cau...

Authors: Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero and Josefa Gil-de-Gómez

Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChild

The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patient...

Authors: P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D’Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans…

Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder whose oral manifestations and dental phenotypes have not been well-characterized. The aim of this study was to explore the influence of oral mani...

Authors: Quynh C. Nguyen, Olivier Duverger, Rashmi Mishra, Gabriela Lopez Mitnik, Priyam Jani, Pamela A. Frischmeyer-Guerrerio and Janice S. Lee

Rare diseases in Chile: challenges and recommendations in universal health coverage context

Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients...

Authors: Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein and Gabriela M. Repetto

An analysis of orphan medicine expenditure in Europe: is it sustainable?

Orphan medicinal product (OMP) prices are considered by some to be a challenge to the sustainability of healthcare expenditure. These concerns are compounded by the increasing number of OMPs receiving marketin...

Authors: Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings and Adam Parnaby

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life ...

Authors: Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognit...

Authors: Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

The work, goals, challenges, achievements, and recommendations of orphan medicinal product organizations in India: an interview-based study

Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal

Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance

Rare diseases are one of the major challenges in the era of precision medicine and reflect the social security level of minority groups. This study aimed to investigate healthcare service utilization and healt...

Authors: Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang and He Wang

Health-related quality of life and its risk factors in Chinese hereditary angioedema patients

Hereditary angioedema (HAE) is a rare but serious condition characterized by unpredictable and recurrent attacks affecting the skin and mucosa. HAE has wide-ranging impacts on the health-related quality of lif...

Authors: Shuang Liu, Xue Wang, Yingyang Xu, Qun Xu and Yuxiang Zhi

RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework

Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis...

Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations

The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge ...

Authors: Sandra Courbier, Rebecca Dimond and Virginie Bros-Facer

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, t...

Authors: Dalibor Stanimirovic, Eva Murko, Tadej Battelino and Urh Groselj

Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals

There are many public health issues to resolve regarding rare diseases, including a lack of data from large-scale studies. The objective of this study was to explore fundamental data for a list of rare disease...

Authors: Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding and Yan Li

The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust

Given the inherent complexity of rare paediatric diseases and the sensitive emotional context of the situations they create (due to the patients’ age and the tense uncertainty surrounding the progression of th...

Authors: Beni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva and Manuel Armayones Ruiz

Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut)

Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an increm...

Authors: Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent and Caridad Pontes

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry

NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERA...

Authors: Eli M. Cahan and Steven L. Frick

Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases

Congenital tuberculosis is rare and carries a high mortality rate. Our objective was to summarize the current experience of the diagnosis and treatment of patients with congenital tuberculosis.

Authors: Chaofeng Li, Lili Liu and Yuhong Tao

Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada

In Canada, reimbursement recommendations on drugs for common and rare diseases are overseen by the Canadian Agency for Drugs and Technologies in Health (CADTH) and made through the pan-Canadian Oncology Drug R...

Authors: Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study

Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association bet...

Authors: Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti and Muriel De La Dure Molla

The role of patient organizations in the rare disease ecosystem in India: an interview based study

Rare diseases (RDs) affect a small percentage of the population but can be severely debilitating and life-threatening. Historically, patient groups (PGs) have been the prime movers in raising awareness about t...

Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research a...

Authors: Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings and Lugdivine Le Dez

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Sapropterin dihydrochloride, a synthetic formulation of BH₄, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH₄-responsive phenylk...

Authors: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H. Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S. Lotz-Havla, Alain Munafo, Diane R. Mould…