ArticleOrphanet journal of rare diseases2025
Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. This study aimed to characterize the clinical features and treatment outcomes of NP-C in Iranian patients.
methodsWe conducted a cross-sectional study of 58 patients with NP-C diagnosed between March 2013 and March 2024 at Mofid Children's Hospital, Tehran. Clinical manifestations were categorized into visceral, cortical, and deep brain domains. Treatment outcomes were assessed in 52 patients who received miglustat therapy.
resultsThe mean age at disease onset was 3.35 ± 3.40 years, with diagnosis occurring at 7.03 ± 4.60 years. Filipin staining confirmed diagnosis in 96.6% of cases. Following miglustat therapy (mean duration: 1.96 ± 2.54 years), 86.5% of patients remained stable or showed improvement in at least one disease domain. Visceral manifestations showed the most favorable response, with 30.8% of patients demonstrating improvement in hepatosplenomegaly. Cortical manifestations (seizures and cognitive disorders) improved in 13.5% of patients. Motor function remained stable in 63.5% of patients, while 7.7% experienced deterioration. Ocular manifestations remained largely stable (94.2%). Seven patients (13.5%) experienced deterioration in at least one domain. At study completion, mortality was 20.7%, with mean age at death of 11.58 ± 7.73 years.
conclusionThis first comprehensive analysis of NP-C in Iran demonstrates the effectiveness of miglustat across multiple disease manifestations, particularly for visceral and cortical symptoms. While neurological symptoms generally stabilized, responses varied, emphasizing the need for individualized therapeutic approaches. Early diagnosis and intervention remain crucial for improving outcomes in this progressive neurodegenerative disorder.
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.