Advancing Research,
Changing Lives

Research plays a critical role in our mission, driving advancements in understanding these complex conditions, developing innovative treatments, and improving diagnosis and care. Through collaboration and knowledge sharing, the INPDA supports research efforts that offer hope for improved outcomes and, ultimately, a cure for those living with Niemann-Pick diseases.

Treatment for

Niemann- Pick Disease Type C (NPC)

Currently, there is no cure for NPC. The standard care involves symptomatic management and the use of Miglustat, which has shown the ability to slow the progression of neurological ymptoms in some patients.

Additionally, several other treatment agents are in development. More information about these clinical trials can be found at clinicaltrials.gov and on the clinical trials update page on the INPDA website (add link to page for clinical trials).

Besides targeted disease modifying treatments, individuals with NPC may receive treatments aimed at managing specific symptoms. These include prescription medications, physiotherapy, occupational therapy, speech-language therapy, and social, educational, and community supports.

Treatment for

Acid Sphingomyelinase Deficiency (ASMD) Niemann Pick Disease Type A & B (NPA & NPB)

Currently, there is no cure for ASMD. Enzyme replacement therapy (ERT) is a disease modifying treatment option available for some individuals with ASMD in certain countries. This intravenous medication provides a functional enzyme (recombinant acid sphingomyelinase) to reduce the buildup of sphingomyelin caused by ASMD. As a relatively new treatment, it is not yet available in all regions.

It is important to note that this treatment targets the visceral disease (involving the liver, spleen, lungs, and bone marrow) caused by ASMD but has limited ability to cross the blood-brain barrier in order to address neurological involvement in types A and A/B ASMD. Presently, caring for children with Type A involves managing the various symptoms resulting from the disease.

Ongoing research is exploring other treatment strategies to address the unmet needs in ASMD. Information on current clinical trials can be found at clinicaltrials.gov and on the clinical trials update page on the INPDA website.

In addition to targeted disease modifying treatments, individuals with ASMD may receive treatments aimed at managing specific symptoms they experience, including prescription medications, physiotherapy, occupational therapy, speech-language therapy, and social, educational, and community supports.