Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom [PDF]
Orphanet Journal of Rare DiseasesBackground Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood.
Sara E. Mole +14 more
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Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years.
Leticia Pereira de Brito Sampaio +8 more
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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy [PDF]
Therapeutics and Clinical Risk Management, 2020 Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
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A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. [PDF]
PLoS ONE, 2017 The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater ...
Ryan D Geraets +7 more
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients [PDF]
Orphanet Journal of Rare Diseases, 2021 Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1).
Sara E. Mole +20 more
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Neurofilament light is a treatment‐responsive biomarker in CLN2 disease [PDF]
Annals of Clinical and Translational Neurology, 2019 Objective Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1 ...
Yuanbin Ru +12 more
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Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials [PDF]
Frontiers in Neurology, 2022 Conducting clinical trials in rare diseases is challenging. In trials that aim to use natural history control cohorts for evaluation of efficacy, lack of data on natural history of disease prolongs development of future therapies significantly. Therefore,
Miriam Nickel, Angela Schulz
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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2) [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive burden of ...
Paul Gissen +16 more
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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] [PDF]
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 +11 more
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Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip [PDF]
Cell Reports MedicineSummary: Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina.
Serena Corti +24 more
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