Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.

Abstract

Background: Niemann-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.

Methods: We 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.

Results: The 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.

Conclusion: This 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.