Jada Bascom Foundation
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Inherited metabolic disorders

Niemann-Pick disease type C2

Also called: NPC2 · NPC type C2 · NPC2 deficiency · NPC2-related Niemann-Pick disease type C · Type C2 Niemann-Pick disease

What a donor has to do with this

A transplant is not a standard part of treating this condition. It is used rarely, in particular situations, and most people diagnosed with it will not have one.

This is our reading of published transplant guidelines for this condition, not a measurement of how many people need a donor. Where a source actually counted donors, the figure and the people it counted are shown further down. Where none did, we say so rather than estimate.

This page is not written out in full yet

We have not written this condition out in full yet. What is on this page — how a donor fits in, who it affects, and the sources behind that — is researched and linked, but the plain-English explanation of the condition itself is still to come.

What the evidence says

Who it affects
Typical onset/diagnosis: NPC2 can present from infancy through adulthood, most often in childhood, and neonatal inflammatory lung disease is a frequent early presentation. Evidence: U.S. NIH GARD synthesis (updated 2026); no markedly enriched population was identified.
Treatments other than a transplant
NPC-directed neurologic therapies and supportive pulmonary/hepatic care — approved options vary by region — multiple regions — These treatments have broader NPC indications; evidence specific to the rare NPC2 genotype remains limited.
If a transplant is used, the cells come from
bone marrow: used in the opened disease-specific case report; mobilized peripheral blood stem cells: not reported in the opened disease-specific evidence; umbilical cord blood: not reported in the opened disease-specific evidence; dominance: bone marrow was the only graft source reported in the opened case evidence
How often the donor was unrelated
Not reported. No source we could read states this for this condition, so we do not give a number. An estimate here would be a guess dressed as evidence.

Where this gets complicated

The limited pulmonary benefit reported in NPC2 must not be generalized to NPC1, where HCT does not control progressive neurologic disease.; Evidence is case-report level and does not support describing HCT as routine standard care.

Written for transplant clinicians, not for patients. We quote it so you can see what the guidance actually says:
“we describe the first successful allogeneic bone marrow transplantation for this condition”

It describes what teams consider in general. It cannot say what applies to any one person. Read the source.

Registries need people

An unrelated donor is not a usual part of treating this condition. Registering still matters, for the many conditions where it is.

Joining a registry is a cheek swab and a short health form. You are not matched to a condition — you are matched to a person, and it could be someone with any of the conditions in this library. You are contacted only if you turn out to be a possible match for someone, and you can ask questions and decline before anything else happens.

Find your registry

Related conditions

Others in inherited metabolic disorders. They are genuinely different diseases with different treatments — the group name is not a diagnosis.

Where this came from