Bernthal, Nicholas M. Spierenburg, Geert Healey, John H. Palmerini, Emanuela Bauer, Sebastian Schreuder, Bart Leithner, Andreas Martin-Broto, Javier Gouin, Francois Cosker, Thomas
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Published in
Orphanet Journal of Rare Diseases
BackgroundTenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It represents a wide spectrum ranging from minimally symptomatic to massively debilitating. Most findings to date are mainly from small, retrospective case series, an...
Hart, Daniel P. Branchford, Brian R. Hendry, Sarah Ledniczky, Robert Sidonio, Robert F. Jr. Négrier, Claude Kim, Michelle Rice, Michelle Minshall, Matthew Arcé, Claire
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Published in
Orphanet Journal of Rare Diseases
BackgroundFor communities of people living with hemophilia and other genetic conditions, gene therapy could represent a paradigm shift in treatment strategies. As investigational therapeutic modalities such as gene therapy become more widely used and discussed, there is a critical need for all stakeholders to communicate using a lexicon that is int...
Zhang, Shu Qin, Dongdong Wu, Liwen Li, Man Song, Lifang Wei, Cuijie Lu, Chunling Zhang, Xiaoli Hong, Siqi Ma, Mingming
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Published in
Orphanet Journal of Rare Diseases
BackgroundDuchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulation by glucocorticoid (GC) treatments. This is to facilitate protocol designs and outcome measures for the emerging DMD clinical tri...
Sethuram, Swathi Sperling, Mark A. Gujral, Jasmine Romero, Christopher J.
Published in
Orphanet Journal of Rare Diseases
BackgroundThe spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regulation of insulin secretion and its actions. Hereditary tyrosinemia (HT1) is a rare metabolic disorder associated with accumulation ...
de Andrés-Nogales, Fernando Cruz, Encarnación Calleja, Miguel Ángel Delgado, Olga Gorgas, Maria Queralt Espín, Jaime Mestre-Ferrándiz, Jorge Palau, Francesc Ancochea, Alba Arce, Rosabel
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Published in
Orphanet Journal of Rare Diseases
BackgroundPatient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteria should be considered to inform these decisions. This study aimed to determine the most relevant criteria for the reimbursement of...
Gill, Liz Burrell, Sue Chamberlayne, John Lombardelli, Stephen Mora, Jordanna Mason, Nicola Schurer, Marieke Merkel, Madeline Meninger, Stephen Ko, John J.
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Published in
Orphanet Journal of Rare Diseases
BackgroundThis study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates. The overall impact of AHP on patients and caregivers, including their quality of life, was explored. The nature and treatment of acute attacks, experiences of long-term...
Sreih, Antoine G. Cronin, Keri Shaw, Dianne G. Young, Kalen Burroughs, Cristina Kullman, Joyce Machireddy, Kirthi McAlear, Carol A. Merkel, Peter A.
Published in
Orphanet Journal of Rare Diseases
BackgroundPatients with vasculitis, a set of rare diseases, encounter delays in obtaining an accurate diagnosis which can lead to substantial morbidity and increased mortality. This study sought to describe the diagnostic journey of patients with vasculitis and identify factors associated with time to diagnosis.MethodsPatients with vasculitis enrol...
Mole, Sara E. Schulz, Angela Badoe, Eben Berkovic, Samuel F. de Los Reyes, Emily C. Dulz, Simon Gissen, Paul Guelbert, Norberto Lourenco, Charles M. Mason, Heather L.
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Published in
Orphanet Journal of Rare Diseases
BackgroundCLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, exp...
Tandon, P. K. Kakkis, Emil D.
Published in
Orphanet Journal of Rare Diseases
In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected patient population. This accepted paradigm is based on clinical evaluations that may not actually capture the breadth of the impact of a dise...
Haubner, F. Schneider, A. Schinke, H. Bertlich, M. Weiss, B. G. Canis, M. Kashani, F.
Published in
Orphanet Journal of Rare Diseases
BackgroundRecurrent spontaneous epistaxis is the most common clinical manifestation and the most debilitating symptom in hereditary haemorrhagic telangiectasia (HHT) patients. To this date, there exist only a classification of HHT patients by different genetic mutations. There is no standard classification for the mucocutaneous endonasal manifestat...
