Results 21 to 30 of about 392 (96)

Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data. [PDF]

PLoS ONE
BackgroundThe CLN2 Clinical Rating Scale evaluates disease progression in CLN2 disease, an ultra-rare, neurodegenerative disorder with late infantile onset. To validate the Clinical Rating Scale, a comparison with the Pediatric Quality of Life Inventory (
Nicola Specchio, Paul Gissen, Emily de Los Reyes, Andrew Olaye, Charlotte Camp, Tristan Curteis, Annabel Griffiths, Thomas Butt, Jessica Cohen-Pfeffer, Peter Slasor, Zlatko Sisic, Mohit Jain, Angela Schulz   +12 more
doaj   +4 more sources

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

New England Journal of Medicine, 2018
Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children.In a multicenter, open-label study, we evaluated the effect of intraventricular infusion of ...
Jonathan Dyke, Angela Schulz, Emily De Los Reyes   +2 more
exaly   +4 more sources

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Journal of Inborn Errors of Metabolism and Screening, 2018
Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomal recessive, pediatric-onset, neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene.
Kathleen W. Wyrwich PhD, Angela Schulz MD, Miriam Nickel MD, Peter Slasor ScD, Temitayo Ajayi MD, David R. Jacoby MD, PhD, Alfried Kohlschütter MD   +6 more
doaj   +3 more sources

Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa. [PDF]

Healthcare (Basel)
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 ...
Due C, Quinn J, Gissen P, Schulz A, Specchio N, de Los Reyes E, Butt T.   +6 more
europepmc   +3 more sources

Patient and Family Perspective on Transition from Ventricular Access Device to Chest-Sited Port for Intracerebroventricular Infusion in CLN2 Disease [PDF]

Children
Background: Cerliponase alfa is currently the only approved disease-modifying therapy for neuronal ceroid lipofuscinosis type 2 (CLN2) disease and requires lifelong intracerebroventricular (ICV) infusion, traditionally via a scalp-sited ventricular ...
Mahie Gopalka, Jina Patel, Megan Votoupal, Sandi Lam   +3 more
doaj   +2 more sources

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients [PDF]

Scientific Reports
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 ...
Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang   +3 more
doaj   +2 more sources

Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort

European Journal of Paediatric Neurology, 2021
Neuronal Ceroid Lipofuscinosis type 2 (CLN2) is a neurodegenerative lysosomal disease which leads to early dementia and death without treatment. The recently available therapy consists of intracerebroventricular enzyme substitution: cerliponase alfa. In this report, we describe the evolution of the first French children treated with cerliponase alfa ...
Stéphane Auvin, Didier Scavarda, Samia Pichard   +2 more
exaly   +3 more sources

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics [PDF]

Pediatric Neurology, 2020
Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the first and only approved treatment for CLN2 disease and the first approved enzyme replacement therapy
Raymond Yu-Jeang Wang, Elizabeth Berry-Kravis, Erika F Augustine   +2 more
exaly   +3 more sources

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy [PDF]

Frontiers in Genetics
A class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme dysfunction.
Anna Bryzik, Dawid Larysz, Patrycja Larysz, Julia Izabela Karpierz, Justyna Paprocka   +4 more
doaj   +2 more sources

A Single-Center Review of Infusion-Associated Reactions in Patients with CLN2 Disease Receiving Cerliponase Alfa

Biologics
Background: Cerliponase alfa is an intracerebroventricular (ICV) enzyme replacement therapy (ERT) and the only approved treatment for neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Rebecca Whiteley, Megan Keating, Mel McSweeney, Megan Dorman, Mathilda Antonini, Spyros Batzios, Emma Footitt, Laura Lee-Clark, Paul Gissen   +8 more
doaj   +2 more sources