Niemann-Pick Disease — NDIS Support

Yes — Niemann-Pick Disease can qualify for NDIS support. Niemann-Pick Disease is on the NDIA’s List A, so the disability requirement is treated as met — the focus is confirming the diagnosis. Funding covers reasonable and necessary supports across daily living, therapy, social participation and capacity building.

Niemann-Pick disease (NPD) comprises a group of rare autosomal recessive lysosomal storage disorders characterised by the accumulation of lipids within cells throughout the body. Three main types are distinguished by their genetic basis, biochemistry and clinical features. Type A and Type B are…

Niemann-Pick Disease & the NDIS FAQs

Is Niemann-Pick disease a List A NDIS condition?
Yes — Niemann-Pick disease is on the NDIS List A. A confirmed diagnosis from a clinical geneticist, metabolic physician or neurologist, supported by appropriate biochemical or genetic testing, is sufficient for NDIS access without a separate functional impact assessment. The diagnosis is sufficient evidence of…
What is the difference between Niemann-Pick types A, B and C?
Types A and B are caused by acid sphingomyelinase enzyme deficiency (SMPD1 gene). Type A is a severe infantile form with profound neurological decline and early death. Type B is a less severe form primarily affecting organs (liver, spleen, lungs) without major neurological involvement, with survival into adulthood.…
Is there treatment available for Niemann-Pick disease in Australia?
Two approved treatments are available in Australia: olipudase alfa (Xenpozyme) is enzyme replacement therapy for Type A and B (acid sphingomyelinase deficiency/ASMD), reducing organ involvement and improving lung function, listed on the PBS for eligible patients; miglustat (Zavesca) is a substrate reduction therapy…
How is Niemann-Pick Type C diagnosed?
NPC diagnosis can be delayed for years, particularly in late adolescent/adult onset where psychiatric symptoms dominate. Diagnosis is made by: clinical recognition of the characteristic features (vertical supranuclear gaze palsy — difficulty looking up and down is the hallmark, plus ataxia, dystonia, cataplexy,…
What support organisations exist for Niemann-Pick disease in Australia?
The National MPS Society Australia covers Niemann-Pick and related lysosomal storage disorders. The Lysosomal Disease Network Australia connects families with rare lysosomal storage disorders. Globally, the National Niemann-Pick Disease Foundation provides extensive resources. An NDIS Support Coordinator with…

Niemann-Pick Disease & the NDIS — practical guides

Related conditions

Sources

Reviewed by the Novida editorial team · last reviewed 2026-07-12. General information only — not medical advice.