Results 11 to 20 of about 69,398 (132)

Study of Intraventricular Cerliponase Alfa for CLN2 Disease [PDF]

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 ...
Angela Schulz, Temitayo Ajayi, Nicola Specchio   +2 more
exaly   +7 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   +5 more sources

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   +5 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   +5 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 ...
Bastien Estublier, Didier Scavarda, Isabelle Desguerre   +2 more
exaly   +5 more sources

A survival analysis of ventricular access devices for delivery of cerliponase alfa [PDF]

Journal of Neurosurgery: Pediatrics, 2022
OBJECTIVE Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive disease caused by tripeptidyl peptidase 1 enzyme deficiency. At the authors’ center, the medication cerliponase alfa is administered every 2 weeks via the intracerebroventricular (ICV) route.
Craven, Claudia L, Gissen, Paul, Bower, Rebecca, Lee, Laura, Aquilina, Kristian, Thompson, Dominic NP   +5 more
semanticscholar   +5 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   +4 more sources

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy. [PDF]

Eur J Neurol
Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, lysosomal storage disorder that causes pediatric onset neurodegenerative disease. It is characterized by mutations in the TPP1 gene. Symptoms begin between 2 and 4 years of age with loss of previously acquired motor, cognitive, and language abilities.
Breuillard D, Ouss L, Le Normand MT, Denis TS, Barnerias C, Robert MP, Eisermann M, Boddaert N, Caillaud C, Bahi-Buisson N, Desguerre I, Aubart M.   +11 more
europepmc   +4 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
Emily De Los Reyes, Erika F Augustine, Elizabeth Berry-Kravis   +2 more
exaly   +4 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   +3 more sources