Results 181 to 190 of about 88,754 (289)

Pediatric Investigation Plans for seizure and epilepsy treatments: An analysis since the implementation of the European Pediatric Regulation in 2006

Epilepsia, EarlyView.
Abstract Objective A Pediatric Investigation Plan (PIP) implemented under the European Pediatric Regulation (EC No. 1901/2006) aims to ensure early and systematic evaluation of medicines for children. We analyze PIPs for antiseizure medications (ASMs) submitted to the European Medicines Agency (EMA) since 2006, characterizing their content, focusing on
Valeria Agostini, Stéphane Auvin
wiley   +1 more source

New opportunities for accessing promising non-oncological orphan drugs. [PDF]

Lancet Reg Health Eur
Hollak CEM, Reparon-Schuijt CC, Verdeyen K, Deesker LJ, Groothoff JW, Vos JMI, Huisman AH, van der Flier S, Pisters-van Roy AAMG.   +8 more
europepmc   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source

The clinical assessment of studies on orphan drugs in relation to the EMA's authorization marketing decisions in Europe. [PDF]

Front Pharmacol
Jakubowski S, Malinowski KP, Kawalec P.
europepmc   +1 more source

Prices of Orphan Drugs in Four Western European Countries Before and After Market Exclusivity Expiry: A Cross-Country Comparison of List Prices and Purchase Prices. [PDF]

Appl Health Econ Health Policy, 2023
Dane A, Klein Gebbink AS, Brugma JD, Degrassat-Théas A, Hug MJ, Houlind MB, Paubel P, van der Kuy PHM, Uyl-de Groot CA.   +8 more
europepmc   +1 more source

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease

Epilepsia, EarlyView.
Abstract Background and Objective Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug‐resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG ...
Cinzia Costa, Laura Bellingacci, Jacopo Canonichesi, Valentina Imperatore, Anna Aurora Taddei, Luis Zafra‐Puerta, Nerea Iglesias‐Cabeza, Paolo Prontera, Andrea Mancini, Massimiliano Di Filippo, Alessandro Tozzi, Katiuscia Martinello, Marta Barzasi, Fabrizio Gardoni, Marina P. Sánchez, José M. Serratosa, Lucilla Parnetti, Miriam Sciaccaluga   +17 more
wiley   +1 more source

Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands. [PDF]

Nephrol Dial Transplant
Deesker LJ, Franssen CFM, Dorresteijn E, van de Kar NCAJ, Nurmohamed SA, Severs D, Garrelfs SF, Pisters-van Roy AAMG, Hollak CEM, Groothoff JW.   +9 more
europepmc   +1 more source

Financing of Rare Diseases and Orphan Drugs in A Sanctioned Country: A Qualitative Study. [PDF]

Med J Islam Repub Iran, 2022
Naghdi S, Maleki M, Vatankhah S.
europepmc   +1 more source

Dietary anthocyanidin pelargonidin activates G protein‐coupled receptor 35

The FEBS Journal, EarlyView.
Pelargonidin, a red‐fruit‐derived anthocyanidin, was newly identified as a dietary agonist of GPR35, a metabolite‐sensing GPCR implicated in anti‐inflammation. Through screening of dietary compounds, pelargonidin emerged as a potent GPR35 agonist, attenuating inflammation in human intestinal cells.
Fumie Nakashima, Sayako Shimomura, Mayuka Wakabayashi, Wei Qi Loh, Harumi Ando, Haruka Sei, Hiroyuki Hattori, Didik Huswo Utomo, Masaki Kita, Asuka Inoue, Koji Uchida, Takahiro Shibata   +11 more
wiley   +1 more source

Recommended methods for the collection of clinical expert judgment in rare diseases: Generating evidence to support reimbursement of orphan drugs. [PDF]

Int J Technol Assess Health Care
Griffiths A, Dunning L, Facey K, Jankovic D, González Malla C, Low E, Meregaglia M, Schmidt F, Wilson K, Upadhyaya S, Chapman N, Zentai C, Wright S, Newell I.   +13 more
europepmc   +1 more source