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Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases

Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan...

Authors: Kathleen L. Miller, Lewis J. Fermaglich and Janet Maynard

Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai

Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diag...

Authors: Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu and Guangjun Yu

Sirolimus in the treatment of kaposiform lymphangiomatosis

Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of ...

Authors: Jiangyuan Zhou, Kaiying Yang, Siyuan Chen and Yi Ji

The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with dec...

Authors: Frank D. Buono, Matthew E. Sprong, Erina Paul, Staci Martin, Kaitlyn Larkin and Amir Garakani

Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort study

Relapsing polychondritis (RPC) is a rare autoimmune disease and its early diagnosis remains challenging. Defining the clinical patterns and disease course may help early recognition of RPC.

Authors: Lei Zhang, Shuang Yun, Tiange Wu, Yujie He, Jinyan Guo, Lishuai Han, Jiameng Lu, Xiaojun Liu, Rui Yang, Shitao Zhang, Tianfang Li and Shengyun Liu

The impact of rarity in NICE’s health technology appraisals

In the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single ...

Authors: Sophie Clarke, Michelle Ellis and Jack Brownrigg

A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study)

Patient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteri...

Authors: Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández and Miguel Ángel Casado

The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases

In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected ...

Authors: P. K. Tandon and Emil D. Kakkis

Cost-of-illness studies in rare diseases: a scoping review

The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.

Authors: Lidia García-Pérez, Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada, Inigo Gorostiza and Pedro Serrano-Aguilar

Parent–child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish–German cross-sectional study

The aim was to compare parent and child-reported health-related quality of life (HRQOL) of children born with esophageal atresia (EA) and determine factors that affect the level of parent–child agreement.

Authors: Stefanie Witt, Michaela Dellenmark-Blom, Susanne Kuckuck, Jens Dingemann, Kate Abrahamsson, Carmen Dingemann, John Eric Chaplin, Benno Ure, Monika Bullinger, Vladimir Gatzinsky, Linus Jönsson and Julia Hannah Quitmann

Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population

Little is known about the impact of rare diseases on inpatient outcomes.

Authors: Reka Maria Blazsik, Patrick Emanuel Beeler, Karol Tarcak, Marcus Cheetham, Viktor von Wyl and Holger Dressel

RDmap: a map for exploring rare diseases

The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and nav...

Authors: Jian Yang, Cong Dong, Huilong Duan, Qiang Shu and Haomin Li

Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study

To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in S...

Authors: Mercedes Guilabert, Alba Martínez-García, Marina Sala-González, Olga Solas and José Joaquín Mira

Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)

The aim of this letter to the editor is to provide a comprehensive summary of uncertainty assessment in Health Technology Assessment, with a focus on transferability to the setting of rare diseases. The author...

Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore

The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research

The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neur...

Authors: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf and Scott R. Plotkin

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

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 Reinhard, 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