ALLMedicine™ Neuronal Ceroid Lipofuscinosis Center
Research & Reviews 272 results
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...
https://doi.org/10.1007/s00234-022-02988-9 10.1542/peds.44.4.570 10.1093/jnen/62.1.1 10.1007/s10048-005-0218-3 10.1016/j.bbadis.2013.03.017 10.1212/WNL.0b013e31825f0547 10.1002/humu.21624 10.1002/ajmg.1320420422 10.1055/s-2007-973654 10.1111/j.1399-0004.2008.01054.x 10.1016/j.bbadis.2013.04.008 10.1111/j.1651-2227.1988.tb10770.x 10.1016/j.ymgme.2008.01.001 10.1016/j.neulet.2021.136117 10.1016/S1474-4422(18)30368-5 10.1007/s40263-019-00620-8 10.3174/ajnr.A4816 10.3174/ajnr.A4669 10.1056/NEJMoa1712649 10.1007/BF00607283 10.1002/ana.410420517 10.1007/s00415-008-0891-x 10.1016/j.pediatrneurol.2013.10.013 10.1016/j.neuroimage.2012.02.084 10.1016/j.neuroimage.2006.02.051 10.3174/ajnr.A3297 10.3174/ajnr.A6726 10.1212/01.wnl.0000169019.41332.8a 10.1016/j.neubiorev.2013.12.004 10.1007/s10545-011-9421-6 10.1007/s00221-006-0732-z 10.1093/cercor/6.4.551 10.1038/13158 10.1016/S0896-6273(02)00569-X
Neuroradiology Hochstein JN, Schulz A et. al.
Jun 15th, 2022 - Grey matter (GM) atrophy due to neuronal loss is a striking feature of patients with CLN3 disease. A precise and quantitative description of disease progression is needed in order to establish an evaluation tool for current and future experimental...
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...
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,|
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...
Drugs 2 results see all →
Clinicaltrials.gov 6 results
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...
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 ...
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...
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...
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...
News 9 results
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.
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.
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.
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.
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...
