Niemann-Pick diseases do not have a cure. They are managed with various methods and can be managed with the below listed strategies:

• Enzyme Replacement Therapy: For ASMD Type B and Type A/B, olipudase alfa (Xenpozyme) is available and can be accessed through specialized metabolic clinics. This therapy helps reduce the size of the liver and spleen and improves lung function¹²⁵. Approved in Europe, Japan, the US and Australia.

• Medications: Australian healthcare providers may prescribe medications to manage symptoms such as seizures, cholesterol levels, and respiratory issues. These include anticonvulsants and statins³.

  • Miglustat: Used to stabilise or slow the progression of neurological symptoms in Niemann-Pick disease type C (NPC), improving or maintaining swallowing function and other neurological manifestations⁶. Note: Clinical studies have shown varying efficacy, with some patients experiencing significant benefits while others may see limited improvement⁷.

• FDA Approved Treatments: There are two treatments approved for use in the US.

  • Miplyffa: (Arimoclomol) by Zevra Therapeutics is the first FDA-approved treatment for Niemann-Pick disease type C (NP-C). It is indicated for use in combination with miglustat for the treatment of neurological manifestations in adults and pediatric patients 2 years of age and older. Read more here.

  • Aqneursa: Aqneursa (levacetylleucine) is an oral medication for treating neurological symptoms of Niemann-Pick disease type C (NPC) in both adults and children weighing at least 15 kg⁸. It works by targeting and correcting genetic mutations to reduce lipid accumulation in cells, potentially slowing disease progression⁸. Read more here.

• Multidisciplinary Care: Patients often receive care from a team of specialists, including neurologists, pulmonologists, and dietitians, to address the various aspects of the disease. This team approach ensures comprehensive care and support.

• Therapies: Physical, occupational, and speech therapies are commonly provided to help maintain mobility, improve communication, and manage swallowing difficulties¹.

• Supportive Services: Organisations like the Australian Niemann-Pick Disease Foundation offer resources, support groups, and advocacy for families affected by NPD. They can also assist with navigating the healthcare system and accessing necessary treatments¹.

• Research and Clinical Trials: Australia participates in global research efforts and clinical trials aimed at finding new treatments for NPD. Patients may have the opportunity to participate in these trials through their healthcare providers¹. For more information on Clinical Trials visit

  • ASMD Clinical Trials

  • NP-C Clinical Trials

  • ANPDF's Therapy Pipeline Summary