General: There is no cure or specific treatment for Niemann-Pick disease (NPD). Instead, treatment focuses on reducing the symptoms and delaying the onset of the disease if it is diagnosed early enough. A healthy, low-cholesterol diet is recommended, although research does not show that this diet slows the progression or cures NPD.
NPD type A: There is no known treatment for NPD type A. Most patients die before 18 months of age. Supportive treatment can be given to manage the symptoms of NPD type A. A multidisciplinary team including pulmonologists, cardiologists, liver and spleen specialists, nutritionists, physical therapists, and a gastroenterologist maybe needed.
NPD types B and C: Individuals with NPD types C and D are frequently placed on a low-cholesterol diet. However, this has not been proven to be clinically beneficial. Medications may be prescribed to control or relieve symptoms, such as seizures.
Bone marrow transplantation has been attempted in a few patients with NPD type B, with limited success due to complications. Clinical trials are ongoing for enzyme replacement therapy in adult patients with non-neurological NPD type B. Another promising treatment for late-onset NPD is to replace the mutant genes with healthy ones using gene therapy. The administration of neurosteroids, which are hormones found in the nervous system that are essential for proper brain function, also shows promise as a future treatment for NPD type B.
Canada has announced its approval of Zavesca® (miglustat) for the treatment of neurological symptoms of NPD type C, it is not a cure, but it has shown benefits in managing symptoms and slowing the progression of NPD type C.
Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Niemann-Pick disease (NPD).
There is currently no known way to prevent Niemann-Pick disease (NPD).
If a person has a family history of NPD, genetic testing may be performed to determine if he or she carries mutant forms of the NPC1, NPC2, or SMPD1 genes. Although carriers do not have the disease, they can pass a copy of the mutated gene on to their children.
Prenatal DNA testing may be performed if there is a family history of NPD. However, there are health risks associated with prenatal testing, including miscarriage.
Before and after genetic testing, it is recommended that people meet with genetic counselors. These professionals can help patients understand the risks of having a child with NPD. A genetic counselor can also explain the different types of genetic tests, including their potential risks and benefits. These counselors can help patients understand and interpret their test results.
Patients diagnosed with NPD should undergo regular checkups with their doctors in order to reduce the risk of developing complications.