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Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients.
Sci Rep
January 2025
Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, 92868, USA.
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive neurodegenerative disorder leading to premature mortality. Ambulatory CLN2 patients typically receive standard of care treatment through biweekly intracerebroventricular (ICV) enzyme replacement therapy (ERT) involving recombinant human tripeptidyl peptidase 1, known as cerliponase alfa (Brineura, Biomarin Pharmaceuticals). This study longitudinally assessed the impact of ICV cerliponase alfa ERT on gait, and postural control across a two-year span in two siblings diagnosed with atypical CLN2 disease.
View Article and Find Full Text PDFAdverse Reactions to the Orphan Drug Cerliponase Alfa in the Treatment of Neurolipofuscinosis Type 2 (CLN2).
Pharmaceuticals (Basel)
November 2024
Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Neuronal Ceroid Lipofuscinosis type 2 is a rare pathology affecting mainly the central nervous system (CNS) and retina, and is caused by variants in the gene encoding the lysosomal enzyme tripeptidyl peptidase 1. Therapy with enzyme replacement through the brain infusion of the orphan drug cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme replacement therapy delivered via intracerebroventricular infusion, has been approved for Neuronal Ceroid Lipofuscinosis type 2 disease. The safety profile of cerliponase alfa has been established based on pre-authorization studies; currently, no post-marketing investigation has been performed to confirm it.
View Article and Find Full Text PDFPsychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa.
Healthcare (Basel)
November 2024
BioMarin International Ltd., London WC1A 2SL, UK.
Objectives: This study evaluated the psychometric properties of the ceroid lipofuscinosis type 2 Quality of Life (CLN2 QoL) questionnaire.
Methods: Data from children with CLN2 disease aged 3-16 years receiving cerliponase alfa in the BMN 190-201 and BMN 190-202 clinical studies, collected via purposive sampling, were used to assess convergent and divergent validity, internal consistency and reliability. The clinically important difference (CID) was estimated with distribution- and anchor-based methods.
Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease.
Eye Brain
November 2024
Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Article Synopsis
- This study aimed to examine the degeneration of peripapillary retinal nerve fiber layer (pRNFL) in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to assess pRNFL thickness using optical coherence tomography (OCT) as a potential indicator of disease progression.
- The research involved 20 diagnosed patients who received regular enzyme replacement therapy, with OCT imaging conducted under anesthesia; results showed a significantly lower mean pRNFL thickness compared to healthy children, indicating degeneration.
- Results highlighted that pRNFL thickness correlated strongly with age and clinical scales used to evaluate motor and language abilities, suggesting that pRNFL can serve as a useful biomarker for monitoring the progression of CL
Cerliponase alfa decreases Aβ load and alters autophagy- related pathways in mouse hippocampal neurons exposed to fAβ.
Life Sci
November 2024
Hacettepe University, Faculty of Pharmacy, Department of Pharmacology, Sihhiye, Ankara, Turkiye. Electronic address:
Article Synopsis
- Extracellular aggregation of amyloid-beta (Aβ) in the brain is linked to Alzheimer's disease (AD), and its intraneuronal accumulation may also contribute to disease progression.
- The study investigates the effect of tripeptidyl peptidase-1 (TPP1), a lysosomal enzyme, and its recombinant form (cerliponase alfa) in reducing Aβ levels within neuron cells while examining the role of autophagy.
- Results showed that cerliponase alfa decreased Aβ accumulation and triggered autophagy-related pathways, suggesting TPP1 enhancement might be a potential Alzheimer’s therapy.
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