National Niemann-Pick Disease Foundation

Recent papers from National Niemann-Pick Disease Foundation

1. Patient Perspective—Where Does the Value for Money of a Treatment Really Lie?Journal of Inherited Metabolic Disease · 2026
2. Strengthening Value Assessment and Health Economics and Outcomes Research Proposals Through Patient Engagement: Guidelines for ResearchersPatient · 2026
3. Patient Experience with 10 mg Intranasally Administered Zavegepant as an Acute Treatment of Migraine Attacks: Qualitative Research FindingsNeurology and Therapy · 2026
4. Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey studyOrphanet Journal of Rare Diseases · 2025
5. A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystemOrphanet Journal of Rare Diseases · 2024
6. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)Orphanet Journal of Rare Diseases · 2023
7. Acetyl-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study2022
8. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspectiveScientific Reports · 2021
9. Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational studyJournal of Inherited Metabolic Disease · 2020
10. Consensus clinical management guidelines for Niemann-Pick disease type COrphanet Journal of Rare Diseases · 2018
11. Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatmentBJPsych Bulletin · 2017
12. The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypesJournal of Lipid Research · 2009
13. The National Niemann–Pick C1 disease database: Report of clinical features and health problemsAmerican Journal of Medical Genetics Part A · 2007