Lena Marie Westermann

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

Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel et autres

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. …

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Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

Eshaan S. Rawat, Nick Manfred, Hisham N. Alsohybe, Wentao Dong et autres

Abstract CLN5 Batten disease, caused by biallelic mutations in CLN5 , is a rare, early-onset neurodegenerative lysosomal storage disorder that has no cure and lacks validated biomarkers, hindering accurate diagnosis and assessment of therapeutic response. We recently identified CLN5 as the synthase …

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Presymptomatic and symptomatic disease stage-dependent outcomes of cerliponase alfa treatment in siblings with CLN2 disease

Lena Marie Westermann, Lara Y. Ruhberg, Susanne Lezius, Luca Hagenah et autres

Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa

Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann et autres

Introduction This study assessed the real-world effectiveness and safety of the enzyme replacement therapy (ERT), cerliponase alfa, to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Methods Data from the DEM-CHILD database were analyzed, comparing patients who initiated ERT outside clinical trials …

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Seizures and movement disorders in patients with CLN2 disease treated with cerliponase alfa in the real-world setting

Angela Schulz, Miriam Nickel, Christoph Schwering, Eva Wibbeler et autres

Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples

Daniel Saarela, Paweł Lis, Sara Gomes, Raja Sekhar Nirujogi et autres

Lysosomes are implicated in a wide spectrum of human diseases, including monogenic lysosomal storage disorders (LSDs), age-associated neurodegeneration, and cancer. Profiling lysosomal content using tag-based lysosomal immunoprecipitation (LysoTagIP) in cell and animal models has substantially moved the field forward, but studying lysosomal …

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Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting

Angela Schulz, Miriam Nickel, Christoph Schwering, Eva Wibbeler et autres

Background/Purpose: CLN2 disease is a rare neurodegenerative disorder caused by deficient TPP1 enzyme activity. Cerliponase alfa (recombinant hTPP1) is currently the only disease-modifying therapy approved for the treatment of CLN2 disease. In this retrospective, observational analysis of data collected in the DEM-CHILD …

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Tagless LysoIP method for molecular profiling of lysosomal content in clinical samples

Daniel Saarela, Paweł Lis, Sara Gomes, Raja Sekhar Nirujogi et autres

Abstract Lysosomes are implicated in a wide spectrum of human diseases including monogenic lysosomal storage disorders (LSDs), age-associated neurodegeneration and cancer. Profiling lysosomal content using tag-based lysosomal immunoprecipitation (LysoTagIP) in cell and animal models allowed major discoveries in the field, however studying …

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Analysis of drug-specific antibody response against cerliponase alfa in CLN2 patients by applying a novel two-step assay

Lena Marie Westermann, Zoe-Isabella Junginger, Anna Marei Mann, Eva Tolosa et autres

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Angela Schulz, Nicola Specchio, Emily de los Reyes, Paul Gissen et autres

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The relationship between the expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor function (CLN2 CRS-MX) and GAITRite® parameters

Luca Hagenah, Christoph Schwering, Catherine Wilson, Eva Wibbeler et autres

Real-world clinical outcomes of intraventricular cerliponase alfa in CLN2 disease: 4.5-year update from an independent ongoing observational study

Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann et autres

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