Articles
Page 1 of 82
-
Citation: Orphanet Journal of Rare Diseases 2024 19:190
-
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (rec...
Citation: Orphanet Journal of Rare Diseases 2024 19:189 -
A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazi...
Citation: Orphanet Journal of Rare Diseases 2024 19:188 -
Scoping review of the recommendations and guidance for improving the quality of rare disease registries
Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their po...
Citation: Orphanet Journal of Rare Diseases 2024 19:187 -
Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in China
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder, leading to various complications and impairments in patients’ health-related quality of life (HRQOL). Limited research has been conducted to ...
Citation: Orphanet Journal of Rare Diseases 2024 19:186 -
Clinical characteristics, radiological features and outcomes in pulmonary involvement of cryoglobulinemia
Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood.
Citation: Orphanet Journal of Rare Diseases 2024 19:185 -
Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effe...
Citation: Orphanet Journal of Rare Diseases 2024 19:184 -
An algorithm to identify patients aged 0–3 with rare genetic disorders
With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccu...
Citation: Orphanet Journal of Rare Diseases 2024 19:183 -
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. T...
Citation: Orphanet Journal of Rare Diseases 2024 19:182 -
A systematic literature review on the health-related quality of life and economic burden of Fabry disease
Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the...
Citation: Orphanet Journal of Rare Diseases 2024 19:181 -
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate ...
Citation: Orphanet Journal of Rare Diseases 2024 19:180 -
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to t...
Citation: Orphanet Journal of Rare Diseases 2024 19:179 -
Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world database
Autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) are all immune-mediated chronic inflammatory liver diseases. Autoimmune liver diseases are rare, making i...
Citation: Orphanet Journal of Rare Diseases 2024 19:178 -
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.
Citation: Orphanet Journal of Rare Diseases 2024 19:177 -
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals w...
Citation: Orphanet Journal of Rare Diseases 2024 19:176 -
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and a...
Citation: Orphanet Journal of Rare Diseases 2024 19:175 -
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid...
Citation: Orphanet Journal of Rare Diseases 2024 19:174 -
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
Genetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be improved by understanding the preferences of patients for the features of dif...
Citation: Orphanet Journal of Rare Diseases 2024 19:173 -
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of ra...
Citation: Orphanet Journal of Rare Diseases 2024 19:172 -
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited.
Citation: Orphanet Journal of Rare Diseases 2024 19:171 -
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5+DM) related death. Elevated serum B-cel...
Citation: Orphanet Journal of Rare Diseases 2024 19:170 -
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional observational study, we examined HPV status and ...
Citation: Orphanet Journal of Rare Diseases 2024 19:169 -
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be a...
Citation: Orphanet Journal of Rare Diseases 2024 19:168 -
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the...
Citation: Orphanet Journal of Rare Diseases 2024 19:167 -
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
Citation: Orphanet Journal of Rare Diseases 2024 19:166 -
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Pregnancy and delivery outcomes in women with Fabry disease are not well described.
Citation: Orphanet Journal of Rare Diseases 2024 19:165 -
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data
Hypoparathyroidism (HP) is a rare endocrine disease commonly caused by the removal or damage of parathyroid glands during surgery and resulting in transient (tHP) or chronic (cHP) disease. cHP is associated wi...
Citation: Orphanet Journal of Rare Diseases 2024 19:164 -
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Citation: Orphanet Journal of Rare Diseases 2024 19:163 -
Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
Recently, Ombashi et al. published a systematic review aiming to identify the pitfalls in the development and implementation as well as factors influencing long-term success of a multidisciplinary, internation...
Citation: Orphanet Journal of Rare Diseases 2024 19:162 -
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of dis...
Citation: Orphanet Journal of Rare Diseases 2024 19:161 -
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic ...
Citation: Orphanet Journal of Rare Diseases 2024 19:160 -
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini...
Citation: Orphanet Journal of Rare Diseases 2024 19:159 -
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present wit...
Citation: Orphanet Journal of Rare Diseases 2024 19:158 -
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed t...
Citation: Orphanet Journal of Rare Diseases 2024 19:157 -
Diagnostic delay of sarcoidosis: an integrated systematic review
Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literatur...
Citation: Orphanet Journal of Rare Diseases 2024 19:156 -
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypog...
Citation: Orphanet Journal of Rare Diseases 2024 19:155 -
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of...
Citation: Orphanet Journal of Rare Diseases 2024 19:154 -
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal compl...
Citation: Orphanet Journal of Rare Diseases 2024 19:153 -
Genotype-phenotype associations in microtia: a systematic review
Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role i...
Citation: Orphanet Journal of Rare Diseases 2024 19:152 -
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential...
Citation: Orphanet Journal of Rare Diseases 2024 19:151 -
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phe...
Citation: Orphanet Journal of Rare Diseases 2024 19:150 -
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with...
Citation: Orphanet Journal of Rare Diseases 2024 19:149 -
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are differe...
Citation: Orphanet Journal of Rare Diseases 2024 19:148 -
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening
Patient registries and databases are essential tools for advancing clinical research in the area of rare diseases, as well as for enhancing patient care and healthcare planning. The primary aim of this study i...
Citation: Orphanet Journal of Rare Diseases 2024 19:147 -
Sleep disturbance in Angelman syndrome patients
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of ne...
Citation: Orphanet Journal of Rare Diseases 2024 19:146 -
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Traditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive values, which are not conducive to early diagnosis and increase parents’ an...
Citation: Orphanet Journal of Rare Diseases 2024 19:145 -
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skel...
Citation: Orphanet Journal of Rare Diseases 2024 19:144 -
Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy
Myasthenia gravis (MG), a rare chronic neuromuscular disorder, is characterized by progressive physical decline and requires long-term pharmacological treatment. Due to the decline of physical and social abili...
Citation: Orphanet Journal of Rare Diseases 2024 19:143 -
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Citation: Orphanet Journal of Rare Diseases 2024 19:142 -
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of ...
Citation: Orphanet Journal of Rare Diseases 2024 19:140
Follow
- ISSN: 1750-1172 (electronic)