Niemann-Pick Disease Type C — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
NPC2 suppresses osteolytic metastasis in lung adenocarcinoma via the AKT/mTOR pathway and tumor-osteoclast crosstalk.
Zhou Si et al. — iScience (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41816293/
- 2.
Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report.
Rojnueangnit Kitiwan et al. — The American journal of case reports (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41851921/
- 3.
Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane.
Kim Hyesoo et al. — The Journal of biological chemistry (16 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41850403/
- 4.
Correction to "Siramesine Attenuates Early Brain Injury Through the TMEM97/NPC1 Pathway After Experimental Subarachnoid Hemorrhage in Rats".
— FASEB journal : official publication of the Federation of American Societies for Experimental Biology (15 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41758500/
- 5.
An Australian standard of care for Niemann-Pick disease type C.
Tchan Michel et al. — Internal medicine journal (13 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41824299/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Recruiting — Phase 3 — Azafaros A.G.
https://clinicaltrials.gov/study/NCT07054515
- 2.
Testing the Addition of BMS-986016 (Relatlimab) to the Usual Immunotherapy After Initial Treatment for Recurrent or Metastatic Nasopharyngeal Cancer
Recruiting — Phase 2 — National Cancer Institute (NCI)
https://clinicaltrials.gov/study/NCT06029270
- 3.
A Follow-up Study to Test Long-term Treatment With Nerandomilast in People With Pulmonary Fibrosis Who Took Part in a Previous Study With Nerandomilast
Recruiting — Phase 3 — Boehringer Ingelheim
https://clinicaltrials.gov/study/NCT06238622
- 4.
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
Recruiting — Phase 3 — IntraBio Inc
https://clinicaltrials.gov/study/NCT05163288
- 5.
The AIRTIVITY™ Study: A Study to Find Out Whether BI 1291583 Helps People With Bronchiectasis
Recruiting — Phase 3 — Boehringer Ingelheim
https://clinicaltrials.gov/study/NCT06872892
- 6.
A Phase 1/2a Study of DB-1311/BNT324 in Advanced/Metastatic Solid Tumors
Recruiting — Phase 1 — DualityBio Inc.
https://clinicaltrials.gov/study/NCT05914116
- 7.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
Recruiting — Phase 3 — Azafaros A.G.
https://clinicaltrials.gov/study/NCT07082725
- 8.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Recruiting — Phase 3 — Azafaros A.G.
https://clinicaltrials.gov/study/NCT07082543
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Niemann-Pick Disease Type C
Niemann-Pick disease type C is a rare lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes, causing progressive neurodegeneration including vertical supranuclear gaze palsy, ataxia, dementia, and seizures. Miglustat can slow neurological progression, and hydroxypropyl beta-cyclodextrin is in clinical trials.
Most Recent Research
The lysosomal-related protein NPC2 affects the occurrence and development of tumors in terms of stemness, gene mutational burden, and microsatellite instability of tumor cells. Here, combining with our previous scRNA-seq data, we identified the protective role of NPC2 in bone metastasis of lung adenocarcinoma (LUAD). Bone metastases exhibited lower NPC2 expression compared to primary tumors, and low NPC2 expression was associated with poorer LUAD patient survival. NPC2 knockdown LUAD cells exhibited enhanced migration capability, and their supernatant accelerated the osteoclast differentiation and maturation. In vivo, NPC2 knockdown promoted the development of osteolytic lesions induced by PC9 cells, whereas NPC2 overexpression partially rescued these lesions. We also found that these effects might be mediated via the AKT/mTOR signaling pathway and crosstalk between cancer cells and osteoclasts. These findings indicate that NPC2 plays a critical role in the osteolytic metastasis of LUAD and may represent a promising therapeutic target for this disease.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.