Clinical and molecular spectrum of Niemann-Pick disease type C patients in India.
Affordable genetic testing rapidly increased rare disease diagnoses in India, showing how accessible screening transforms outcomes in resource-limited settings.
The first comprehensive molecular characterization of NPC in India identified 11 novel variants and demonstrated that a low-cost program-based smMIP assay can simultaneously detect point mutations and copy number variants. More than 60% of diagnoses in this 16-year series occurred in the final 4 years following the FRIGE-Sanofi DISHA program, showing that structured access to affordable testing dramatically accelerates rare disease diagnosis in resource-limited settings.
What the study was
- Study design
- Multicenter retrospective observational study
- Population
- Pediatric NPC patients across Indian tertiary centers (n=28, 2010–2026)
- Sample size
- 28
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Frontiers in Pediatrics
Why it surfaced
Expands NPC molecular spectrum with 11 novel variants in underserved South Asian population; smMIP assay approach is scalable and cost-effective; DISHA program model directly applicable to LMI healthcare systems; high unmet need in lysosomal storage disorders.
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