Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.

Vellodi, Ashok; Hobbs, J. R.; O’Donnell, Nessa; Coulter, Brian; Hugh‐Jones, K.

doi:10.1136/bmj.295.6610.1375

Cited by 70 publications

(20 citation statements)

References 7 publications

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“…99 It should be noted that ERT clinical trials are planned for NP type B. The case report describing a patient with NP type C treated with HCT is not encouraging.…”

Section: Niemann-pick (Np Types a B And C)mentioning

confidence: 99%

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

286

178

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Summary:For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), a-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

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“…99 It should be noted that ERT clinical trials are planned for NP type B. The case report describing a patient with NP type C treated with HCT is not encouraging.…”

Section: Niemann-pick (Np Types a B And C)mentioning

confidence: 99%

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

286

178

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“…This patient is now 16 years post-HSCT but has severe physical and mental disabilities. 6,7 The second patient has not been described in any publications but is reportedly stable (Morris Kletzel, MD, Northwestern University, personal communication, 2005.…”

Section: Discussionmentioning

confidence: 90%

Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B

et al. 2005

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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.

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“…Niemann-Pick type B patients, who do not have neurologic involvement, however, have demonstrated improvement in the systemic symptoms following BMT [23]. Niemann-Pick type C patients have not appeared to benefit in terms of improvement of neurologic symptoms [24].…”

Section: Niemann-pick Disease Types a And B (Sphingomyelinase Deficiementioning

confidence: 98%

Lysosomal storage diseases

Kaye

2001

Curr Treat Options Neurol

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Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy (ERT), and glycolipid synthesis inhibition have been developed in the last 20 years and continue to be researched and evaluated. Bone marrow transplantation began approximately 15 years ago and has shown benefit for some of the lysosomal storage disorders. In order to be effective, the transplant must be performed early in the course of the disease, before the development of irreversible neurologic damage. Diseases such as Hurler appear to respond to BMT, however, improvement in bone disease is much less vigorous than responses in other organs. Krabbe disease responds if the transplant is performed before irreversible signs of neurologic damage appear. Metachromatic leukodystrophy may respond if the transplant can be performed early enough although peripheral nerve findings appear to progress. Other diseases, eg, GM1- and GM2-gangliosidoses do not appear to be altered by BMT. Despite its high cost, ERT has been very effective treatment for type I (non-neuronopathic) Gaucher disease. Enzyme replacement therapy for other LSDs, including ERT for Fabry and Pompe diseases, which are planned to be imminently introduced, and other enzymes such as for Morquio and Hunter diseases that are in the study phases, may be marketed in the very near future. Glycolipid inhibitors, such as N-butyldeoxynijirimycin (OGS-918), have been effective in reducing the liver and spleen volume in type I Gaucher disease. These oral inhibitors may prove to be important adjuncts to ERT and provide the advantage of being able to cross the blood/brain barrier, which limits enzyme access to brain. Currently, clinical studies are being conducted on patients with type III Gaucher disease and Fabry disease using OGS-918. Other, potentially more specific, glycolipid inhibitors are being developed.

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Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.

Cited by 70 publications

References 7 publications

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B

Lysosomal storage diseases

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