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.
Citation: Orphanet Journal of Rare Diseases 2021 16:178
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The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.
Citation: Orphanet Journal of Rare Diseases 2021 16:178
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild...
Citation: Orphanet Journal of Rare Diseases 2021 16:177
Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of...
Citation: Orphanet Journal of Rare Diseases 2021 16:176
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies....
Citation: Orphanet Journal of Rare Diseases 2021 16:175
Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH...
Citation: Orphanet Journal of Rare Diseases 2021 16:173
Patients with Ehlers-Danlos Syndrome/Hypermobility Type (EDS-HT/JHS) and Craneo-Cervical Instability frequently suffer from severe widespread pain which is difficult to control. Chronic neuroinflammation, opio...
Citation: Orphanet Journal of Rare Diseases 2021 16:172
It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagn...
Citation: Orphanet Journal of Rare Diseases 2021 16:171
The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intelle...
Citation: Orphanet Journal of Rare Diseases 2021 16:170
To investigate the contribution of unaffected cardiomyocytes in Fabry disease cardiomyopathy.
Citation: Orphanet Journal of Rare Diseases 2021 16:169
With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people ...
Citation: Orphanet Journal of Rare Diseases 2021 16:168
The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning defects during embryonic development. The majo...
Citation: Orphanet Journal of Rare Diseases 2021 16:167
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive fa...
Citation: Orphanet Journal of Rare Diseases 2021 16:166
The mucopolysaccharidoses (MPS) are a group of rare, genetic, lysosomal storage disorders characterized by progressive, multisystemic accumulation of glycosaminoglycans. Individuals with severe MPS often prese...
Citation: Orphanet Journal of Rare Diseases 2021 16:165
The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare ...
Citation: Orphanet Journal of Rare Diseases 2021 16:164
Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decli...
Citation: Orphanet Journal of Rare Diseases 2021 16:163
The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area.
Citation: Orphanet Journal of Rare Diseases 2021 16:162
Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter ...
Citation: Orphanet Journal of Rare Diseases 2021 16:161
The prognosis of recurrent low-grade endometrial stromal sarcoma (LGESS) is little known. This study was to investigate the survival outcomes of a cohort of patients with recurrent LGESS.
Citation: Orphanet Journal of Rare Diseases 2021 16:160
Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried...
Citation: Orphanet Journal of Rare Diseases 2021 16:159
There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide ev...
Citation: Orphanet Journal of Rare Diseases 2021 16:158
Transfusion-dependent thalassaemia (TDT) is a hereditary blood disorder in which blood transfusion is the mainstay treatment to prolong survival and improve quality of life. Patients with this disease require ...
Citation: Orphanet Journal of Rare Diseases 2021 16:157
Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.
Citation: Orphanet Journal of Rare Diseases 2021 16:156
An amendment to this paper has been published and can be accessed via the original article.
Citation: Orphanet Journal of Rare Diseases 2021 16:155
An amendment to this paper has been published and can be accessed via the original article.
Citation: Orphanet Journal of Rare Diseases 2021 16:154
Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disabi...
Citation: Orphanet Journal of Rare Diseases 2021 16:153
Central nervous system (CNS) involvement is extremely rare in eosinophilic granulomatosis with polyangiitis (EGPA), but is associated with a poor prognosis in the five-factor score. This study aims to elucidat...
Citation: Orphanet Journal of Rare Diseases 2021 16:152
Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain. For ex...
Citation: Orphanet Journal of Rare Diseases 2021 16:151
Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the na...
Citation: Orphanet Journal of Rare Diseases 2021 16:150
Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a ...
Citation: Orphanet Journal of Rare Diseases 2021 16:149
Hydroxyurea and blood transfusion therapies remain the main therapeutic strategies for Sickle cell disease. Preliminary data suggest substantial variation and inconsistencies in practice of these two therapeut...
Citation: Orphanet Journal of Rare Diseases 2021 16:148
Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It ...
Citation: Orphanet Journal of Rare Diseases 2021 16:147
An amendment to this paper has been published and can be accessed via the original article.
Citation: Orphanet Journal of Rare Diseases 2021 16:146
An amendment to this paper has been published and can be accessed via the original article.
Citation: Orphanet Journal of Rare Diseases 2021 16:145
This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients...
Citation: Orphanet Journal of Rare Diseases 2021 16:144
Diagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next ...
Citation: Orphanet Journal of Rare Diseases 2021 16:131
Hemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life. The standard of care for severe hemophilia B in the Uni...
Citation: Orphanet Journal of Rare Diseases 2021 16:143
Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relativ...
Citation: Orphanet Journal of Rare Diseases 2021 16:142
It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an...
Citation: Orphanet Journal of Rare Diseases 2021 16:141
Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplin...
Citation: Orphanet Journal of Rare Diseases 2021 16:140
Estimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of ...
Citation: Orphanet Journal of Rare Diseases 2021 16:139
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-...
Citation: Orphanet Journal of Rare Diseases 2021 16:138
We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years....
Citation: Orphanet Journal of Rare Diseases 2021 16:137
An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized...
Citation: Orphanet Journal of Rare Diseases 2021 16:136
Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a ...
Citation: Orphanet Journal of Rare Diseases 2021 16:135
Extramammary Paget’s disease (EMPD) is an intraepithelial adenocarcinoma. The chronic relapsing clinical course and unbearable clinical symptoms of extramammary Paget’s disease usually result in a markedly dim...
Citation: Orphanet Journal of Rare Diseases 2021 16:134
Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy...
Citation: Orphanet Journal of Rare Diseases 2021 16:133
Intestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intes...
Citation: Orphanet Journal of Rare Diseases 2021 16:132
Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general po...
Citation: Orphanet Journal of Rare Diseases 2021 16:130
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD) does not exist currently, recent advances in complex molecular pathophysiology studies of FSHD have led to possible therap...
Citation: Orphanet Journal of Rare Diseases 2021 16:129
To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rare...
Citation: Orphanet Journal of Rare Diseases 2021 16:128