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.

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.

Learn more about the trial and the most recent updates at: 

Additional Resources:


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:

When Considering Experimental Therapies

Recently, there has been discussion on the listserv and elsewhere about experimental therapies for Niemann-Pick Disease. Some of these therapies are being used in the setting of formal clinical trials, while others are not. In either case, families are faced with considering whether a therapy is right for their affected family member.

Because of this, we have developed a new information sheet for you to use as you think about these issues. It is called "For Your Information - Thinking about Experimental Therapies."

[June 22, 2009 mem]

Stem Cell Transplantation

One such experimental therapy that has been attempted in NPB is hematopoeitic stem cell transplantation.  Several articles have been published (see abstracts below) about the use of stem cell transplantation therapy in NPB patients, showing successful engraftment of the stem cells and normalizaton of enzyme levels.

However, patients may have complications of graft vs. host disease (GVHD). It remains challenging to balance the potential risks of chronic GVHD against the potential therapeutic benefits. With early news of the development of enzyme replacement therapy, it is possible that these risks will be bypassed.

The final abstract below notes unsuccessful treatment of NPA disease through hematopoeitic stem cell transplantation, given that the child shows continued neurological regression despite successful engraftment.

In Niemann-Pick Disease Type B:      (Click here to visit the Type A Treatment page)

1.Pediatr Blood Cancer.  2007 Dec;49(7):987-9.

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B.

Schneiderman J, Thormann K, Charrow J, Kletzel M Children's Memorial Hospital, Hematology/Oncology/Transplant, Chicago, Illinois, USA.

Niemann-Pick type B (NP) is an autosomal recessive lysosomal storage disorder with variable phenotypes for which few patients have undergone hematopoietic progenitor cell (HPC) transplantation. We present an 18-month old with NP type B who underwent two allogeneic HPC transplants from her HLA-identical sister. Sphingomyelinase in the peripheral leucocytes and skin fibroblasts was absent at diagnosis. Engraftment failed following initial transplant; therefore a second with the same donor was performed.

Engraftment since has been durable; all subsequent sphingomyelinase levels have been normal. Our experience indicates that HPC transplantation for patients with NP type B is feasible and beneficial. 2007 Wiley-Liss, Inc

PMID: 17635007 [PubMed - indexed for MEDLINE]

2. Pediatrics. 2005 Oct;116(4):1022-5.

Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B.

Shah AJ, Kapoor N, Crooks GM, Parkman R, Weinberg KI, Wilson K, Kohn DB.

Division of Research Immunology/Bone Marrow Transplantation, Childrens Hospital Los Angeles, CA 90027, USA.

Histocompatible hematopoietic stem cell transplantation (HSCT) was conducted on a 4.5-year-old girl with Niemann-Pick disease type B. The donor was her unaffected brother. At the time of transplantation, she had severe pulmonary disease. After her first HSCT, she developed graft failure. Five years after her second HSCT, her sphingomyelinase levels are within normal levels, she has no pulmonary symptoms, and aside from persistent graft versus host disease, she is doing well.

PMID: 16199719 [PubMed - indexed for MEDLINE]

In Niemann-Pick Disease Type A:

J Inherit Metab Dis. 2007 Nov;30(6):987. Epub 2007 Oct 25.

Unsuccessful treatment attempt: cord blood stem cell transplantation in a patient with Niemann-Pick disease type A.

Morel CF, Gassas A, Doyle J, Clarke JT.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada.

Niemann-Pick disease type A (NP-A; OMIM 257200) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid sphingomyelinase and resulting in accumulation of sphingomyelin, unesterified cholesterol, and other complex lipids in many tissues. It is characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course culminating in death by 3 years of age. There is no known effective treatment.

We report the case of a prenatally diagnosed girl who underwent cord blood stem cell transplantation (CBSCT) at 3 months of age. She was neurologically intact at the time of CBSCT. Hepatosplenomegaly, was detected at 6 weeks of age; the splenomegaly resolved following CBSCT. Recovery was complicated by graft-versus-host disease. She subsequently developed and continues to show marked global developmental delay, generalized hypotonia, and signs of neurological regression, despite continued engraftment.

Bilateral cherry red spots were detected at 10 months of age, 7 months post-CBSCT. Although she is doing better than her affected brother, she shows little overall benefit from CBSCT.

PMID: 17960492 [PubMed - indexed for MEDLINE]

[Jan 19, 2010 mem]

[June 28, 2010 mem]

“The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the Canadian Chapter of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the CCNNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.”