Results 61 to 70 of about 676 (154)

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL) [PDF]

, 2016
International audienceAbstractRare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development ...
A Denis, A Desser, A Dupont, A Farrugia, A Ferrario, A Kesselheim, A Schieppati, A Sharma, Adam Hutchings, AIFA (Italian Medicines Agency), B Adams, B Jönsson, B Potter, C Palaska, C Schey, C Schey, C Solon, Carlo Tomino, D Endrei, D Hughes, D Mullins, D Tordrup, David Taylor, E Augustine, Elena Nicod, EMA (European Medicine Agency), EMA (European Medicine Agency), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUnetHTA (European Network for Health Technology Assessment), EUPATI (The European Patients’ Academy), EUPATI (The European Patients’ Academy), EUR-Lex Access to European Union law, European Commission, European Commission, European Commission, European Commission, EURORDIS, EURORDIS, HTAi (Health Technology Assessment International), I Onakpoya, IRDiRC-EMA (The International Rare Diseases Research Consortium and European Medicine Agency), J Mestre-Ferrandiz, J Sussex, J Whitty, Jean-Louis Roux, Josep Torrent-Farnell, K Facey, K Facey, K Simon, K Staley, Karen Facey, L Barham, L Drummond, L Gutierrez, L Schnipper, Lieven Annemans, Lugdivine Le Dez, M Douglas, M Drummond, M Field, M Garau, M Mazzucato, M Paulden, M Schlander, M Schlander, M Wagner, Michael Schlander, Michele Reni, N Cherny, N Grubert, NHS England Cancer Drugs Fund Tram. Appraisal and Funding of Cancer Drugs from July 2016 (including the new Cancer Drug Fund), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), O Lantrès, P Kanavos, P Rollet, P Vickers, P Wahlster, P Williams, Penilla Gunther, R Griggs, R Vrueh de, Rare Disease Task Force, S Aardweg Van den, S Berglas, S Gasson, S Kleijnen, S Simoens, S Simoens, Sheela Upadhyaya, Ségolène Aymé, T Gammie, T Morel, V Fedyaeva, V Paris, W Hughes-Wilson, W Liney, WHO (World Health Organization), Yann Le Cam   +104 more
core   +6 more sources

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA

, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program.
Pintos-Morell, Guillem, Blasco Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia, Universitat Autònoma de Barcelona   +7 more
openaire   +2 more sources

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants [PDF]

, 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene.
AlSayed, M., Chien, Yin-Hsiu, D'Avanzo, Francesca, Facchin, Ana Carolina Brusius, Giugliani, Roberto, Izzo, Emanuela, Kasper David C., Lin, Hsiang-Yu, Lin, Shuan-Pei, Marrone, Amelia, Pollard, Laura Malinda, Singh, Akashdeep, Tomanin, Rosella, Tonin, Rodolfo, Wood, Tim J., Zanetti, Alessandra   +15 more
core   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate.
Guilherme Baldo PhD, Fabiano Poswar MD, Andressa Federhen MSc, Camila Bittar MD, Rejane Gus PhD, Fernanda Bender MSc, Roberto Giugliani MD, PhD   +6 more
doaj   +1 more source

The estimation of health state utility values in rare diseases: do the approaches in submissions for NICE technology appraisals reflect the existing literature? A scoping review [PDF]

, 2022
Background Rare diseases negatively impact patients' quality of life, but the estimation of health state utility values (HSUVs) in research studies and cost-utility models for health technology assessment is challenging.
Drummond, Michael, Meregaglia, Michela, Nicod, Elena   +2 more
core   +1 more source

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

Orphanet Journal of Rare Diseases, 2020
Background The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years.
Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, Wuh-Liang Hwu   +9 more
doaj   +1 more source

Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment [PDF]

, 2018
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa
Decker, Celeste, Geberhiwot, Tarekegn, Hawley, Sara M., Hendriksz, Christian, Jesaitis, Lynne, Jones, Simon A., Long, Brian, Qi, Yulan, Santra, Saikat   +8 more
core   +1 more source

Omalizumab and other biologics in drug desensitization [PDF]

, 2020
Purpose of review; Omalizumab has been proposed for controlling adverse reactions during drug desensitization. Our aim is to know the current evidence involving the use of omalizumab in drug-allergy desensitization.
Blanca-López, Natalia, Fernández, Javier, Ruano-Zaragoza, María   +2 more
core   +1 more source