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About 723 results

ALLMedicine™ Neuronal Ceroid Lipofuscinosis Center

Research & Reviews  272 results

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
https://clinicaltrials.gov/ct2/show/NCT03307304

Jun 16th, 2022 - Study Description: The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial, and to establish a biorepository of sampl...

Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Dise...
https://doi.org/10.3390/ijerph19105895
International Journal of Environmental Research and Publi... Honingh AK, Kruithof YL et. al.

May 29th, 2022 - The juvenile variant of Neuronal Ceroid Lipofuscinosis (CLN3 disease/Batten disease) is a rare progressive brain disease in children and young adults, characterized by vision loss, decline in cognitive and motor capacities and epilepsy. Children w...

Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy.
https://doi.org/10.1001/jamaneurol.2022.1008
JAMA Neurology; Yu W, Cao L et. al.

May 17th, 2022 - Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy.|2022|Yu W,Cao L,Lin P,|

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associa...
https://doi.org/10.1080/15548627.2022.2065618
Autophagy Lee J, Xu Y et. al.

May 5th, 2022 - Mutations in DNAJC5/CSPα are associated with adult neuronal ceroid lipofuscinosis (ANCL), a dominant-inherited neurodegenerative disease featuring lysosome-derived autofluorescent storage materials (AFSMs) termed lipofuscin. Functionally, DNAJC5 h...

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Drugs  2 results see all →

Clinicaltrials.gov  6 results

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
https://clinicaltrials.gov/ct2/show/NCT03307304

Jun 16th, 2022 - Study Description: The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial, and to establish a biorepository of sampl...

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
https://clinicaltrials.gov/ct2/show/NCT03862274

Aug 3rd, 2021 - CLN2 disease is a predominantly late infantile form of neuronal ceroid lipofuscinosis and one of the many genetic isoforms of Batten disease. Mutations in the CLN2 gene are characterized by deficient lysosomal serine protease TPP1, an enzyme that ...

Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
https://clinicaltrials.gov/ct2/show/NCT00151216

Jul 24th, 2020 - Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal childhood neurodegenerative lysosomal storage disease with no known therapy. There are estimated to be 200 to 300 children in the USA at any one time with the disease. LINCL is a gen...

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
https://clinicaltrials.gov/ct2/show/NCT01966757

Jul 26th, 2016 - Neuronal Ceroid Lipofuscinosis (NCL) is the most common neurodegenerative disorder in children characterized by seizures, blindness, ataxia, myoclonia and loss of cognition. There are 12 clinical types identified with a concurrent genetic abnormal...

Collection of Cerebrospinal Fluid in Healthy Children
https://clinicaltrials.gov/ct2/show/NCT01698229

May 4th, 2016 - obtain cerebrospinal fluid from healthy children already undergoing a lumbar puncture procedure at New York Presbyterian Hospital, to act as healthy controls when compared to children with late infantile neuronal ceroid lipofuscinosis (LINCL), a f...

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News  9 results

Cerliponase alfa continues to impress for CLN2 disease
https://www.mdedge.com/pediatrics/article/207334/pediatrics/cerliponase-alfa-continues-impress-cln2-disease?channel=39313
Bruce Jancin

Aug 30th, 2019 - BANGKOK – Biweekly cerliponase alfa continued to show durable and clinically important therapeutic benefit in children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease at the 3-year mark in an ongoing international study, Marina Trivisano.

Cerliponase alfa continues to impress for CLN2 disease
https://www.mdedge.com/neurology/article/207334/pediatrics/cerliponase-alfa-continues-impress-cln2-disease
Bruce Jancin

Aug 30th, 2019 - BANGKOK – Biweekly cerliponase alfa continued to show durable and clinically important therapeutic benefit in children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease at the 3-year mark in an ongoing international study, Marina Trivisano.

The FDA’s novel drugs approved in 2017
https://www.mdedge.com/obgyn/article/166430/obstetrics/fdas-novel-drugs-approved-2017
Gerald G. Briggs, BPharm, FCCP

May 23rd, 2018 - Novel drugs are innovative new products that have never before been used in clinical practice. Among the 46 that the Food and Drug Administration approved in 2017, 45 could be used in pregnancy.

Intraventricular enzyme replacement slows CLN2 disease progression
https://www.mdedge.com/pediatrics/article/164157/rare-diseases/intraventricular-enzyme-replacement-slows-cln2-disease
M. Alexander Otto

Apr 25th, 2018 - LOS ANGELES – Intraventricular administration of cerliponase alfa seemed to slow the rate of motor and language decline in an open-label trial of 23 children with neuronal ceroid lipofuscinosis type 2 disease. Neuronal ceroid lipofuscinosis type 2.

Cerliponase Alfa May Slow Symptoms of CLN2 Disease in Children
https://www.medscape.com/viewarticle/895684

Apr 25th, 2018 - LOS ANGELES — Treatment with intraventricular cerliponsase alfa (Brineura, BioMarin International) may decrease motor and language function declines in children with infantile neuronal ceroid lipofuscinosis type 2 (CLN2), new research suggests. CL...

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