Inherited metabolic disorders
Niemann-Pick disease type C2
NPC2-related Niemann-Pick disease type C is a genetic disorder of intracellular lipid transport. It can affect the liver, spleen, lungs and nervous system; some infants have severe pulmonary disease.
Other names and abbreviations
NPC2 · NPC type C2 · NPC2 deficiency · NPC2-related Niemann-Pick disease type C · Type C2 Niemann-Pick disease
Where transplant fits
Donor transplantation has been reported in isolated NPC2 cases, but it is not established routine care and cannot be assumed to prevent progressive neurologic disease. A registry donor is therefore not the usual treatment pathway.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Presentation can range from infancy to later life. Severe early lung disease is an important possible feature, not a universal presentation.
- Other treatment options
- Multidisciplinary pulmonary, neurologic, nutritional and supportive care is central. Medicines with broader NPC indications may be considered according to regional approval and individual eligibility.
- Cells used for transplantation
- Allogeneic bone marrow has been reported in isolated NPC2 treatment; no routine donor-graft pathway is established.
Why the details matter
NPC2 and NPC1 are different genetic causes of NPC. Results from individual NPC2 transplants, or from broader NPC drug studies, cannot establish genotype-specific benefit for everyone.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Niemann-Pick Disease Type C
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
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