The Tuscany Regional Network for rare diseases: from European Reference Networks ’ experience to registry based organisation and management model for rare diseases
In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the E... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 13, 2023 Category: Internal Medicine Authors: Federica Pieroni, Sonia Marrucci, Linda Di Pietro, Cecilia Berni and Cristina Scaletti Tags: Research Source Type: research
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores
Generalized pairwise comparisons (GPC) can be used to assess the net benefit of new treatments for rare diseases. We show the potential of GPC through simulations based on data from a natural history study in ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2023 Category: Internal Medicine Authors: Vaiva Deltuvaite-Thomas, Micka ël De Backer, Samantha Parker, Marie Deneux, Lynda E. Polgreen, Cara O’Neill, Samuel Salvaggio and Marc Buyse Tags: Research Source Type: research
Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease
Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2023 Category: Internal Medicine Authors: Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson and Ana Jovanovic Tags: Review Source Type: research
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with diverse symptoms related to sensory, motor, and... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2023 Category: Internal Medicine Authors: Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima, Haruki Koike, Mitsuharu Ueda, Hiroaki Konishi, Tomonori Ishii and Teresa Coelho Tags: Review Source Type: research
The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data
Mitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial disease is associated with morbidity and mortality, with predominantl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 11, 2023 Category: Internal Medicine Authors: Enrico Bertini, Emily Gregg, Chris Bartlett, Vij Senthilnathan, Mick Arber, Deborah Watkins, Sara Graziadio and Ioannis Tomazos Tags: Review Source Type: research
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience
Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP)... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 11, 2023 Category: Internal Medicine Authors: Kate Williams, Georgina Tickler, Pedro Valdivielso, Jordi Alonso, Montserrat Vera-Llonch, Laia Cubells and Sarah Acaster Tags: Research Source Type: research
A pilot study: handgrip as a predictor in the disease progression of SCA3
Spinocerebellar ataxia type 3 (SCA3) is an inherited, autosomal, and rare neurodegenerative disease. Serum/plasma biomarkers or functional magnetic resonance imaging used to assess progression, except for neur... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 11, 2023 Category: Internal Medicine Authors: Chungmin Chiu, Wenling Cheng, Yongshiou Lin, Tatsung Lin, Huiju Chang, Yujun Chang, Chiaju Lee, Henhong Chang and Chinsan Liu Tags: Research Source Type: research
Retraction Note: Multidisciplinary management for Peutz –Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 11, 2023 Category: Internal Medicine Authors: Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu and Yingpu Sun Tags: Retraction Note Source Type: research
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6 –70.5 years) improved endurance, muscle strength and function. Data on long-term effects... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 11, 2023 Category: Internal Medicine Authors: Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek and Linda E. M. van den Berg Tags: Research Source Type: research
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly establi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 10, 2023 Category: Internal Medicine Authors: Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, M ónica Zufiria, Oihane Jaka, Adolfo López de Munain and Amets Sáenz Tags: Research Source Type: research
Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers
The goal of this study was to evaluate macular microvascular changes in patients with Fabry disease (FD) using optical coherence tomography angiography (OCTA) and to explore their correlation with laboratory a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 8, 2023 Category: Internal Medicine Authors: Migle Lindziute, Jessica Kaufeld, Karsten Hufendiek, Ingo Volkmann, Dorothee Brockmann, Sami Hosari, Bettina Hohberger, Mardin Christian, Carsten Framme, Tode Jan and Katerina Hufendiek Tags: Research Source Type: research
Supporting patients in the transition to the revised pexidartinib dosing regimen: perspectives from the multidisciplinary clinical and allied health professional team
Pexidartinib is a colony-stimulating factor-1 receptor inhibitor approved in the United States for treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 7, 2023 Category: Internal Medicine Authors: Colleen McCabe, Hillary Wright, Kathleen Polson and Andrew J. Wagner Tags: Position statement Source Type: research
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective
Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 7, 2023 Category: Internal Medicine Authors: Philippe F. Backeljauw, Mary Andrews, Peter Bang, Leo Dalle Molle, Cheri L. Deal, Jamie Harvey, Shirley Langham, El żbieta Petriczko, Michel Polak, Helen L. Storr and Mehul T. Dattani Tags: Review Source Type: research
Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 5, 2023 Category: Internal Medicine Authors: Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko and Ji Hoon Phi Tags: Research Source Type: research
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Following the reverse genetics strategy developed in the 1980s to pioneer the identification of disease genes, genome(s) sequencing has opened the era of genomics medicine. The human genome project has led to ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 4, 2023 Category: Internal Medicine Authors: Alessandra Ferlini, Edith Sky Gross and Nicolas Garnier Tags: Letter to the Editor Source Type: research
