Treatment Options

for NPB

Research into therapies for NPB 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 NPB in the laboratory.

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 conducted a few times on humans with Type B. The results of these transplants have been mixed.

For more information, contact

Dr. Edward Schuchman at:

Phone: (212) 241-9198

Fax: (212) 849-2447

Email:edward.schuchman@mssm.edu

Enzyme replacement therapy has been tested on mice and shown to be effective for NPB. It has also been used successfully in other lysosomal storage diseases, such as Gaucher Type I and Fabry's. Genzyme Corp. and Mount Sinai Medical Center have begun a clinical trial of enzyme replacement therapy for older Type B patients.

For more information, contact

Dr. Robert Desnick

Phone: (212) 241-6944

Fax: (212) 360-1809

Email:rjdesnick@mssm.edu

Gene therapy would allow the defective gene to be replaced by normal genes. Positive results of this therapy have been obtained with individual cells but testing on Niemann-Pick mice is just beginning.

Supportive treatment can help manage the symptoms of NPB. Support may be needed from:

• A Pulmonologist for respiratory problems

• A Cardiologist for heart problems

• Liver and spleen specialists

• Nutritionists

• Physical therapists

• Learning specialists (if neurological difficulties are identified)

• A Gastroenterologist

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