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Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin.

Bountouvi, Evangelia (author)
Giorgi, Melpomeni (author)
Papadopoulou, Anna (author)
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Blennow, Kaj, 1958 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Björkhem, Ingemar (author)
Karolinska Institutet
Tsirouda, Maria (author)
Kanellakis, Spyridon (author)
Fryganas, Andreas (author)
Spanou, Maria (author)
Georgaki, Ioanna (author)
Asprogeraka, Sofia (author)
Dinopoulos, Argyrios (author)
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 (creator_code:org_t)
2021
2021
English.
In: Innovations in clinical neuroscience. - 2158-8333. ; 18:1-3, s. 11-16
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)

Keyword

Niemann-Pick type C disease (NPC)
adverse events
cyclodextrin
biomarkers
neurofilament light (NFL)
phosphorylated tau (P-tau)
total tau protein (T-tau)

Publication and Content Type

ref (subject category)
art (subject category)

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