Sökning: onr:"swepub:oai:gup.ub.gu.se/312111" > Longitudinal Data i...
Fältnamn | Indikatorer | Metadata |
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000 | 03836naa a2200493 4500 | |
001 | oai:gup.ub.gu.se/312111 | |
003 | SwePub | |
008 | 240910s2021 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:234150357 | |
024 | 7 | a https://gup.ub.gu.se/publication/3121112 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:2341503572 URI |
040 | a (SwePub)gud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Bountouvi, Evangelia4 aut |
245 | 1 0 | a Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin. |
264 | 1 | c 2021 |
520 | a Niemann-Pick Type C disease (NPC) is a rare, incurable, autosomal-recessive, lysosomal storage disorder with protean and progressive neurovisceral manifestations characterized by accumulation of intracellular unesterified cholesterol. The investigational use of 2-hydroxypropyl-beta-cyclodextrin (HP-β-CD) in the treatment of NPC has shown promising results in improving life expectancy and reducing neurological damage in this patient population. This case report describes two children with the neurological form of NPC: a 5-year-old male patient in advanced stage of the disease and an 11-year-old female patient in moderately advanced stage. Despite treatment with the enzyme inhibitor, miglustat, both patients continued to exhibit severe neurodegeneration. High intrathecal (900mg) and low intravenous (350-500mg/kg) doses of HP-β-CD (Trappsol®Cyclo™) were administrated twice monthly to the patients in addition to miglustat therapy. The patients were monitored clinically as well as by imaging, laboratory, and biomarker (e.g., total tau protein [T-tau]; phosphorylated tau [P-tau]; neurofilament light [NFL], oxysterols) studies over a period of 16 to 22 months. The combination therapy of miglustat and HP-β-CD resulted in disease stabilization in both patients. The combination therapy demonstrated a good safety profile, and no adverse effects on hearing were observed. Additionally, CSF biomarkers appeared useful in monitoring neuronal damage. Large, randomized studies are needed to confirm these findings. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
653 | a Niemann-Pick type C disease (NPC) | |
653 | a adverse events | |
653 | a cyclodextrin | |
653 | a biomarkers | |
653 | a neurofilament light (NFL) | |
653 | a phosphorylated tau (P-tau) | |
653 | a total tau protein (T-tau) | |
700 | 1 | a Giorgi, Melpomeni4 aut |
700 | 1 | a Papadopoulou, Anna4 aut |
700 | 1 | a Blennow, Kaj,d 1958u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xbleka |
700 | 1 | a Björkhem, Ingemaru Karolinska Institutet4 aut |
700 | 1 | a Tsirouda, Maria4 aut |
700 | 1 | a Kanellakis, Spyridon4 aut |
700 | 1 | a Fryganas, Andreas4 aut |
700 | 1 | a Spanou, Maria4 aut |
700 | 1 | a Georgaki, Ioanna4 aut |
700 | 1 | a Asprogeraka, Sofia4 aut |
700 | 1 | a Dinopoulos, Argyrios4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
773 | 0 | t Innovations in clinical neuroscienceg 18:1-3, s. 11-16q 18:1-3<11-16x 2158-8333 |
856 | 4 8 | u https://gup.ub.gu.se/publication/312111 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:234150357 |
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