Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study
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.
Authors
- Vahide Zeinali (ORCID: https://orcid.org/0000-0001-5431-8557)
- Sharareh Kamfar
- Mahmoud Reza Ashrafi (ORCID: https://orcid.org/0000-0001-5483-6549)
- Seyed Hassan Tonekaboni (ORCID: https://orcid.org/0000-0003-0853-8465)
- Parvaneh Karimzadeh (ORCID: https://orcid.org/0000-0002-6302-9973)
- Ali Reza Tavasoli (ORCID: https://orcid.org/0000-0003-0440-5809)
- Farzad Ahmadabadi (ORCID: https://orcid.org/0000-0002-8738-4398)
- Faezeh Ghanaati (ORCID: https://orcid.org/0009-0004-2154-6704)
Institutions
- Barrow Neurological Institute (US)
- Children's Medical Center (IR)
- Phoenix Children's Hospital (US)
- Shahid Beheshti University of Medical Sciences (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-27
- DOI
- https://doi.org/10.1186/s13023-025-03897-9
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Shahid Beheshti University of Medical Sciences