ReviewMetabolic brain disease2021
Treatment trials in Niemann-Pick type C disease.
Review in Metabolic brain disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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.
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.
Who cites it
35 citing papers in PubMed, 41 citations in OpenAlex.
- Efficacy and safety of efavirenz in Niemann-Pick disease type C.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Trial
- Mito-TEMPO improves survival rates inScience advances · 2026Article
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.Journal of inherited metabolic disease · 2026Review
- The Simultaneous Prevention of Multiple Diseases: A "One Ring to Rule Them All" Framework for Redox-Driven Health and Longevity.Nutrients · 2026Review
- Therapeutic Potential of Mesenchymal Stem Cells in Niemann-Pick Disease.Molecular biotechnology · 2026Review
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Enhancing the Water Solubility and Efficacy of Anticancer Drugs Using Hydroxypropyl-β-Cyclodextrin.International journal of molecular sciences · 2026Review
- Drug-Induced Reversible Lysosomal Changes Tracked in Live Cells by Holo-Tomographic Flow Cytometry.ACS nano · 2025Article
- Smart Drug Delivery Systems Based on Cyclodextrins and Chitosan for Cancer Therapy.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Targeting Glucosylceramide Synthase: Innovative Drug Repurposing Strategies for Lysosomal Diseases.International journal of molecular sciences · 2025Article
- Synthesis of a Hydroxy-15-Azasterol.ACS omega · 2025Article
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Role of cholesterol in modulating brain hyperexcitability.Epilepsia · 2025Review
- Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.Metabolites · 2024Article
- The Possible Associations between Tauopathies and Atherosclerosis, Diabetes Mellitus, Dyslipidemias, Metabolic Syndrome and Niemann-Pick Disease.Diagnostics (Basel, Switzerland) · 2024Review
- Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1.Journal of lipid research · 2024Article
- CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.Molecular biology reports · 2024Review
- The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.Diagnostics (Basel, Switzerland) · 2024Review
- Niemann-Pick Disease Type C (NPDC) by Mutation ofAntioxidants (Basel, Switzerland) · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood-brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.