Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt –Hopkins syndrome: a retrospective study
Pitt –Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospectiv... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 8, 2024 Category: Internal Medicine Authors: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu and Jincai Feng Tags: Research Source Type: research
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder
Protein phosphatase 2 regulatory subunit B ’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gro... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung and Jacqueline Montes Tags: Research Source Type: research
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Gr ønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner Tags: Research Source Type: research
Real-world evidence for coverage determination of treatments for rare diseases
Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more quickly through accelerated approval schemes, creating more uncert... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Victoria W. Dayer, Michael F. Drummond, Omar Dabbous, Mondher Toumi, Peter Neumann, Sean Tunis, Nelson Teich, Shadi Saleh, Ulf Persson, Johann-Matthias Graf von der Schulenburg, Daniel C. Malone, Tay Salimullah and Sean D. Sullivan Tags: Position statement Source Type: research
The effects of etidronate on brain calcifications in Fahr ’s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial
Fahr ’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen and Huiberdina L Koek Tags: Research Source Type: research
Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS)
Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation muta... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez and Muhammad Kassim Javaid Tags: Research Source Type: research
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectua... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 6, 2024 Category: Internal Medicine Authors: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova and Petr Kuglik Tags: Research Source Type: research
Implementation of thyroid eye disease registry in Iran: rationale and research protocol
To describe the implementation of a registry system for patients with thyroid eye disease (TED) in Iran to obtain more information about its nature, prevalence, and annual incidence, as well as extend insight ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 6, 2024 Category: Internal Medicine Authors: Shadi Akbarian, Abbas Sheikhtaheri, Farid Khorrami, Hossein Ghahvechian, Nasser Karimi and Mohsen Bahmani Kashkouli Tags: Research Source Type: research
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study
Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi and Federico Pieruzzi Tags: Research Source Type: research
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone and Matteo Cioni Tags: Research Source Type: research
Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data
Amyotrophic lateral sclerosis (ALS) is an irreversible degenerative disease. Placebo-controlled randomized trials are currently the main trial design to assess the clinical efficacy of drugs for ALS treatment.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Ruifen Cai, Juan Yang, Lijuan Wu, Yixiao Liu, Xinrui Wang, Qingshan Zheng and Lujin Li Tags: Research Source Type: research
Cronkhite ‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of colonic polyps
Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary disease characterized by diffuse gastrointestinal polyposis and ectodermal abnormalities. Although it has been proposed to be a chronic inflammatory con... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2024 Category: Internal Medicine Authors: Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li and Ji Li Tags: Research Source Type: research
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinas... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2024 Category: Internal Medicine Authors: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe and Justin Hopkin Tags: Research Source Type: research
Rett syndrome in Ireland: a demographic study
Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals glob... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 31, 2024 Category: Internal Medicine Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes and Daniela Tropea Tags: Research Source Type: research
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorder... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2024 Category: Internal Medicine Authors: Anna Szoszkiewicz, Ewelina Bukowska-Olech and Aleksander Jamsheer Tags: Review Source Type: research
