Results 31 to 40 of about 69,398 (132)

PMDA Perspective on Use of Real-World Data and Real-World Evidence as an External Control: Recent Examples and Considerations. [PDF]

Clin Pharmacol Ther
Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Asano J, Sugano H, Murakami H, Noguchi A, Ando Y, Uyama Y.   +5 more
europepmc   +2 more sources

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc   +2 more sources

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a lysosomal storage disorder, causes early childhood psychomotor regression, vision loss, seizures, and rapid progressive gray matter loss. However, the link between neurodegenerative processes induced by lysosomal pathophysiology and the clinical phenotype remains unclear.
Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Felix L. Naegele, Nils‐Ole Gloyer, Fabian Flottmann, Jens Fiehler, Götz Thomalla, Bastian Cheng, Angela Schulz   +12 more
wiley   +2 more sources

Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. [PDF]

Childs Nerv Syst
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a genetic disease caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), resulting in seizures, vision/cognitive decline, and early death.
Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J.   +8 more
europepmc   +2 more sources

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

F1000Research, 2022
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA.
Wendy E. Heywood, Katharina Iwan, Kevin Mills, Nina Patel, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Amanda Heslegrave, Mina Borisova, Laura Lee, Paul Gissen, Rebecca Bower   +11 more
doaj   +1 more source

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness – A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease

Eye and Brain
Nikolaos Gkalapis,1,2,* Simon Dulz,1,* Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf,
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y   +8 more
doaj   +2 more sources

Cerliponase Alfa: First Global Approval

, 2018
Compliance with Ethical StandardsFunding: The preparation of this review was not supported by any external funding.Conflicts of interest: A. Markham is a contracted employee of Adis/Springer SBM, is responsible for the article content and declares no ...
Anthony Markham (4891627)
core   +2 more sources

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience. [PDF]

J Pers Med
Background: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions.
Radić Nišević J, Kolić I, Kostanjski M, Kovačević F, Prpić I.   +4 more
europepmc   +2 more sources

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies [PDF]

, 2021
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence.
Huidekoper H. H., Kravljanac R., Mazurkiewicz-Beldzinska M., Prpic I., del Toro M., Haliloglu G., Andersen B. N., Striano P., Muhlhausen C., Auvin S.   +9 more
core   +2 more sources

First case of use of cerliponase alfa in a child with neuronal ceroid lipofuscinosis type 2 in Bahia

Arquivos de Neuro-Psiquiatria
Érica Otoni Pereira Miranda, Lukas Santos Freire, Giovana Andrade de Oliveira, Ícaro Giovani Barros Carregosa, Rebeca Lima de Almeida Santos, Qesya Rodrigues Ferreira, Odivan de Souza Lopes, Emmanuel Santos Trindade, Lorena Tanajura Oliveira   +8 more
openaire   +2 more sources