Results 31 to 40 of about 392 (96)

Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060] [PDF]

Molecular Genetics and Metabolism Reports
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Natacha Sabrina Bazan, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva   +34 more
doaj   +2 more sources

Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease. [PDF]

Aust Prescr, 2019
europepmc   +4 more sources

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Journal of Inborn Errors of Metabolism and Screening, 2022
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity.
Guillermo Guelbert, Norberto Guelbert
doaj   +1 more source

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)

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, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz   +16 more
doaj   +1 more source

A survival analysis of ventricular access devices for delivery of cerliponase alfa

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
openaire   +3 more sources

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]

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, Katharina Iwan, Kevin Mills, Nina Patel, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Amanda Heslegrave, Mina Borisova, Laura Lee, Paul Gissen, Rebecca Bower   +11 more
doaj   +1 more source

Exploring the feasibility of using the ICER Evidence Rating Matrix for Comparative Clinical Effectiveness in assessing treatment benefit and certainty in the clinical evidence on orphan therapies for paediatric indications

Orphanet Journal of Rare Diseases, 2023
Background The evaluation of clinical evidence takes account of health benefit (efficacy and safety) and the degree of certainty in the estimate of benefit.
Jaro Wex, Monika Szkultecka-Debek, Mariola Drozd, Sarah King, Natasa Zibelnik   +4 more
doaj   +1 more source

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

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
doaj  

Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis

Seizure: the Journal of the British Epilepsy Association
Anita Datta, Sylvia Stöckler
exaly   +3 more sources

Cerliponase alfa in the treatment of patients with classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America

, 2022
Abstract Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible, improving quality of life and survival.
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Atanacio, Natacha Sabrina Bazan, Ellaine Dóris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Marques Ribeiro, Juan C Giugni, Gabriel González, Dolores González Morón, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Emília Katiane Embiruçu, Marcelo A. Kauffman, Nury Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina F Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo A Naranjo Florez, André Pessoa, Maria V Ruiz, Martha M Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Urgrina, María Vaccarezza, Diane Vergara, Marıá Mercedes Villanueva   +34 more
openaire   +1 more source