Evidence map›Paper›PMID 34150357›Full record

ArticleInnovations in clinical neuroscience

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

Evangelia Bountouvi, Melpomeni Giorgi, Anna Papadopoulou, Kaj Blennow, Ingemar Björkhem, Maria Tsirouda, Spyridon Kanellakis, Andreas Fryganas, Maria Spanou, Ioanna Georgaki and 2 more

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PubMed Full text at PMC
In one paragraph

Article in Innovations in clinical neuroscience. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 1 institution in 2 countries.

Evangelia BountouviDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Melpomeni GiorgiDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Anna PapadopoulouDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Kaj BlennowDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Ingemar BjörkhemDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Maria TsiroudaDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Spyridon KanellakisDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Andreas FryganasDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Maria SpanouDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Ioanna GeorgakiDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Sofia AsprogerakaDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Argyrios DinopoulosDrs. Bountouvi, Giorgi, Papadopoulou, Tsirouda, Fryganas, Spanou, Georgaki, Asprogeraka, and Dinopoulos are with the Third Department of Pediatrics, Athens University Medical School, at the University General Hospital "Attikon" in Athens, Greece.
Karolinska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

adverse eventscyclodextrin, biomarkersneurofilament light (NFL)Niemann-Pick type C disease (NPC)phosphorylated tau (P-tau)total tau protein (T-tau)

Identifiers

PMID34150357
PMCPMC8195555
OpenAlexW3177306733

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.