The status of hematopoietic stem cell transplantation in lysosomal storage disease

• Published in: Pediatric neurology Vol. 29; no. 5; pp. 391 - 403
• Main Authors: Malatack, J.Jeffrey, Consolini, Deborah M, Bayever, Eliel
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.11.2003; Elsevier
• Subjects: Animals; Biological and medical sciences; Bone Marrow Transplantation - methods; Bone Marrow Transplantation - trends; Clinical Trials as Topic; Disease Models, Animal; Errors of metabolism; Hematopoietic Stem Cell Transplantation - methods; Hematopoietic Stem Cell Transplantation - trends; Humans; Lysosomal Storage Diseases - classification; Lysosomal Storage Diseases - diagnosis; Lysosomal Storage Diseases - physiopathology; Lysosomal Storage Diseases - surgery; Lysosomal Storage Diseases - therapy; Medical sciences; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Transplantation Conditioning; Treatment Outcome; Human; Treatment; Surgery; Stem cell; Hematopoietic cell; Metabolic diseases; Transplantation; Review; Lysosomal storage disease; Child; Genetic disease
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2003.09.003

Lysosomal storage diseases are a group of disorders which have in common an inherited defect in lysosomal function—in most cases, a missing intralysosomal enzyme. Research into potential treatment options for this group of disorders has focused on enzyme replacement. Over the past two decades, hematopoietic stem cell transplantation has been used with increasing frequency to treat patients with lysosomal storage disease by providing a population of cells with the capacity to produce the missing enzyme. The success of marrow transplantation depends on the specific enzyme deficiency and the stage of the disease. Generally, visceral symptoms can be improved, whereas skeletal lesions remain relatively unaffected. The effect on neurologic symptoms varies. Hematopoietic stem cell transplantation remains a viable treatment option in those lysosomal storage diseases where data supportive of disease stabilization or amelioration are known. Early transplantation is the goal so that enzyme replacement may occur before extensive central nervous system injury becomes evident. When inadequate clinical data are available, the decision to perform transplantation requires experimental data demonstrating that the enzyme in question is both excreted from normal cells and taken up by affected cells as evidenced by elimination of storage material in vitro.