Results 11 to 20 of about 165,283 (121)

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 ...
Jonathan Dyke, Angela Schulz, Emily De Los Reyes   +2 more
exaly   +6 more sources

Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2 [PDF]

Internal Medicine
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive lysosomal disease caused by decreased activity of the enzyme tripeptidyl peptidase 1 (TPP1) due to pathogenic variants in the TPP1 gene. Cerliponase alfa, a recombinant proenzyme form of TPP1, has shown efficacy in preventing motor and language function decline in early-stage CLN2 ...
Tatsushi Toda, Masashi Hamada, Takashi Matsukawa   +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

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
core   +5 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

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

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

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +2 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls. [PDF]

Epilepsia Open
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Wang S, Perucca E, Berkovic SF, Perucca P.   +3 more
europepmc   +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