The news concerning treatments for all forms of Niemann-Pick is improving but there is still much to do before definitive therapies are available. Just a few years ago, the cause of Niemann-Pick was unknown. Now the genetic sources of Niemann-Pick have been identified and research is focusing on how the biochemical mechanisms work and how they can be corrected.
Potential treatments are described for informational purposes only. You should consult with your physician for medical advice about individual cases.
Types A and B Research into definitive therapies has progressed rapidly since the early 1990's. Mount Sinai School of Medicine is conducting research on bone marrow transplantation, enzyme replacement therapy, and gene therapy. These therapies have proven effective against Type B NPD in the laboratory but they have not been effective against the progressive neurological decline found in Type A NPD.
Bone marrow transplantation has proven effective in mouse models for many aspects of Type B when the transplant occurs early in life. Because bone marrow transplant is a complex medical procedure, it has only been done a few times on humans with Type B. The results of these transplants has been mixed. Patients who want more information can contact Dr. Edward Schuchman at:
Enzyme replacement has been tested on mice and shown to be effective for Type B. It has also been used successfully in other lysosomal storage diseases, such as Gaucher Type I and Fabray's. Genzyme Corp. is working with Mount Sinai Medical Center to develop outcome measures and tests necessary for a clinical trial of enzyme replacement therapy. Contact Dr. Robert Desnick to obtain more information on the clinical trial.
Gene therapy would allow the defective gene to be replaced by normal genes. Positive results have been obtained with individual cells but testing on Niemann-Pick mice is just beginning.
Supportive treatment can help manage the symptoms of Type B NPD and improve the quality of life for Type A NPD. Support may be needed from:
Pulmonologist for respiratory problems
Cardiologist for heart problems
Liver and spleen specialist
Nutritionist
Physical therapist
Learning specialist (if neurological difficulties are identified)
Gastroenterologist
Type C There is no definitive therapy for Type C Niemann-Pick. Research is continuing to identify potential treatments that would either slow or stop the progression of the disease.
A clinical trial of Zavesca (or OGT-918) for Type C Niemann-Pick is underway in the U.S. and Europe. Zavesca slowed, but did not stop, the neurological decline when tested on NPC mice. Current information on this trial can be found on our OGT-918 page.
A drug assay is being conducted by Dr. Laura Liscum. Nearly 50,000 compounds were tested by Bristol Meyers Squibb for potential effectiveness with Type C. 50 compounds were identified as candidates for further testing but none has proven suitable for human use. Work is continuing on related compounds.
Laboratory studies of neurosteroids have had encouraging results when tested on mice but more work needs to be done before a clinical trial can be considered.
Many of the symptoms of Niemann-Pick Type C can be controlled or tempered by drugs and supportive treatment. Cate Walsh-Vockley, National NP Coordinator, can provide guidance to families in this area. Each patient must be considered individually, depending on symptoms. Supportive treatments should be re-evaluated on a regular basis as the disease progresses.
How Can I Help My Child? contains details about supportive treatments and the types of services that may be useful.
