Vignes, Stéphane Albuisson, Juliette Champion, Laurence Constans, Joël Tauveron, Valérie Malloizel, Julie Quéré, Isabelle Simon, Laura Arrault, Maria Trévidic, Patrick
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Published in
Orphanet Journal of Rare Diseases
Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS), based on a critical literature review and multidisciplinary expert consensus, is to provide health professionals ...
Jason, Shourick Maxime, Wack Anne-Sophie, Jannot
Published in
Orphanet Journal of Rare Diseases
IntroductionEstimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of this work was to evaluate to what extent the number of publications can be used to predict the prevalence of a given pathology.Me...
Dommergues, Marc Candilis, Drina Becerra, Ludivine Thoueille, Edith Cohen, David Viaux-Savelon, Sylvie
Published in
Orphanet Journal of Rare Diseases
BackgroundRare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of volunteer women with motor impairment due to a rare disease. In a parenting support institution, we recruited a consecutive series...
Mosbah, Helena Coupaye, Muriel Jacques, Flavien Tauber, Maithé Clément, Karine Oppert, Jean-Michel Poitou, Christine
Published in
Orphanet Journal of Rare Diseases
BackgroundPrader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVID-19 infection and lockdown on mental and physical health in PWS. At the end of April, 85 adults with PWS completed a self-administ...
Bain, Jennifer M. Ardalan, Adel Goldman, Sylvie
Published in
Orphanet Journal of Rare Diseases
Diagnosis and management of children with rare neurodevelopmental disorders (RNDDs) are complex. The COVID-19 pandemic has forced us to rethink the research activities critical to improve our understanding and treatment of RNDDs, such as creating large international registries and developing natural history studies. In this communication, we reflec...
Miller, Kathleen L. Fermaglich, Lewis J. Maynard, Janet
Published in
Orphanet Journal of Rare Diseases
BackgroundOrphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan Drug Act in the United States. We created a database of all orphan drugs designated between 1983 and 2019 that included numerous d...
Gwaltney, Chad Stokes, Jonathan Aiudi, Anthony Mazar, Iyar Ollis, Sarah Love, Emily Shields, Alan
Published in
Orphanet Journal of Rare Diseases
BackgroundBarth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate treatment effects in BTHS clinical studies. The objective of t...
Jiang, Yu-Liang Xu, Xiao-Dong Li, Bai-Rong Yu, En-Da Zhao, Zi-Ye Liu, Hong
Published in
Orphanet Journal of Rare Diseases
ObjectiveTo report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.Clinical presentation and interventionPJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis...
Zhou, Jiangyuan Yang, Kaiying Chen, Siyuan Ji, Yi
Published in
Orphanet Journal of Rare Diseases
BackgroundKaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of KLA. Sirolimus, which is an inhibitor of mammalian target of rapamycin, has been shown to have promising potential in the treatment...
Cai, Xiaoshu Genchev, Georgi Z. He, Ping Lu, Hui Yu, Guangjun
Published in
Orphanet Journal of Rare Diseases
BackgroundRare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diagnose, treat, and investigate. In China, the country’s rapid economic rise and development has brought an increased focus on rare di...
