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Advanced Search Results For "Cerliponase alfa"

1 - 10 of 17 results for
 "Cerliponase alfa"
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Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Publication Type: Academic Journal

Source(s): Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

Abstract: Abstract 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. Enzyme replacement therapy wi...

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Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

Abstract: Abstract Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks via an intracerebroventri...

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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)

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Abstract: Abstract 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...

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Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract: Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available...

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'Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series'

Publication Type: Academic Journal

Source(s): Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100718- (2021)

Abstract: Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language d...

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

Publication Type: Academic Journal

Source(s): Therapeutics and Clinical Risk Management, Vol Volume 16, Pp 213-222 (2020)

Abstract: 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 Gesù Children’s Hosp...

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Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment.

Publication Type: Academic Journal

Source(s): Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 19; Vol. 17 (1), pp. 19. Date of Electronic Publication: 2022 Jan 19.

Abstract: Background: Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks via an intracerebroventricular de...

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

Publication Type: Academic Journal

Source(s): Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2021 Oct 08; Vol. 29 (1), pp. 115-121. Date of Electronic Publication: 2021 Oct 08 (Print Publication: 2022).

Abstract: 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 ...

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Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.

Publication Type: Academic Journal

Source(s): Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 14; Vol. 16 (1), pp. 221. Date of Electronic Publication: 2021 May 14.

Abstract: Background: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available and has...

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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).

Publication Type: Academic Journal

Source(s): Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 12; Vol. 16 (1), pp. 217. Date of Electronic Publication: 2021 May 12.

Abstract: 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 ...

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