Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses and Leukodystrophies

Abstract

The only effective treatment for selected metabolic diseases is a successful allogeneic hematopoietic stem cell transplantation (HCT). Best results with HCT are obtained when performed early in the course of the disease. Hence, timely identification and referral are critical. Also, early identification of affected patients during the newborn period via screening may be invaluable, particularly for the infantile onset rapidly progressive forms of diseases. Rapid availability of a donor graft is often crucial for these patients. Preliminary experience suggests that results after umbilical cord blood (UCB) transplant may be comparable to those after marrow transplants. UCB grafts have certain benefits of rapid availability and even reduced risk of GvHD. Hence, UCB transplant represents an alternative to marrow HCT. Related haploidentical HCT, possibly with very high doses of CD34+ cells, may also represent an option. However, expertise has been developed in very few transplant centers and no large reports are available of its use for patients with inherited metabolic diseases.

Zusammenfassung

Für bestimmte Mukopolysaccharidosen (MPS) und Leukodystrophien stellt die hämatopoetische Stammzelltransplantation die einzige Therapieform dar, die ein Langzeitüberleben ermöglicht. Die vorliegende Übersichtsarbeit konzentriert sich auf die Besprechung dieser beiden Gruppen, da sie die häufigsten Formen vererbter Erkrankungen des Stoffwechsels darstellen, die einer Therapie mit hämatopoetischen Stammzellen zugänglich sind. Nachdem zum heutigen Zeitpunkt eine ganze Reihe von Kindern transplantiert worden ist und Erfahrungen aus längeren Nachbeobachtungszeiten vorliegen, lassen sich klarere Aussagen über die Rolle der hämatopoetischen Stammzelltransplantation treffen. Entscheidend sind eine frühe Diagnose und eine zeitige Transplantation. Zusätzliche Supportivmaßnahmen wie logopädische Behandlung, Physiotherapie und orthopädische Betreuung tragen entscheidend zu guten Langzeitergebnissen bei. Trotzdem müssen noch große Anstrengungen unternommen werden, um transplantationsbedingte Nebenwirkungen und Spätfolgen zu minimieren.

Hematopoietic stem cell transplantation - inherited metabolic diseases - storage diseases - mucopolysaccharidosis - Hurler syndrome - leukodystrophy - adrenoleukodystrophy - Maroteaux-Lamy - metachromatic leukodystrophy - globoid-cell leukodystrophy

Hämatopoetische Stammzelltransplantation - Knochenmarktransplantation - Stoffwechselkrankheiten - lysosomale Speicherkrankheiten - Mukopolysaccharidosen - Leukodystrophien

References

• 1 Krivit W. et al . Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.  N Engl J Med. 1998;  338 1119-1126
• 2 Peters C, Steward C G. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.  Bone Marrow Transplant. 2003;  31 229-239
• 3 Shapiro E. et al . Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.  Lancet. 2000;  356 713-718
• 4 Fratantoni J C, Hall C W, Neufeld E F. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.  Proc Natl Acad Sci U S A. 1969;  64 360-366
• 5 Hobbs J R. et al . Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.  Lancet. 1981;  2 709-712
• 6 Hoogerbrugge P M. et al. The European Group for Bone Marrow Transplantation . Allogeneic bone marrow transplantation for lysosomal storage diseases.  Lancet. 1995;  345 1398-1402
• 7 Kennedy D W, Abkowitz J L. Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. 1997; 90993.  Blood. 1997;  90 986-993
• 8 Neufeld E, Muenzer J. The Mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Walle W (ed). McGraw-Hill, New York 2001; 3421-3452
• 9 Peters C. et al. The Storage Disease Collaborative Study Group . Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children.  Blood. 1998;  91 2601-2608
• 10 Peters C. et al . Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.  Blood. 1996;  87 4894-4902
• 11 Whitley C B. et al . Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction.  Birth Defects Orig Artic Ser. 1986;  22 7-24
• 12 Krivit W. Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI): treatment by allogeneic bone marrow transplantation in 6 patients and potential for autotransplantation bone marrow gene insertion.  Int Pediatr. 1992;  7 47
• 13 Krivit W. et al . Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation.  N Engl J Med. 1984;  311 1606-1611
• 14 Krivit W, Peters C, Shapiro E G. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III.  Curr Opin Neurol. 1999;  12 167-176
• 15 Krivit W. et al .Bone Marrow Transplantation for the treatment of Lysosomal and Peroxisomal diseases: focus on central nervous system reconstitution. In: Principles of clinical immunology. Schwartz BD (ed). Mosby, St. Louis 1995; 1852
• 16 Klein K A, Krivit W, Whitley C B. Poor cognititve outcome of eleven children with Sanfillipo syndrome after bone marrow transplantation and successful engraftment.  Bone Marrow Transplant. 1995;  15 176
• 17 Shapiro E G. et al . Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation.  J Inherit Metab Dis. 1995;  18 413-429
• 18 Ho V T, Soiffer R J. The history and future of T-cell depletion as graft-versus-host disease prophylaxis for allogeneic hematopoietic stem cell transplantation.  Blood. 2001;  98 3192-3204
• 19 Lee S J. et al . Comparison of T-cell-depleted and non-T-cell-depleted unrelated donor transplantation for hematologic diseases: clinical outcomes, quality of life, and costs.  Blood. 2002;  100 2697-2702
• 20 Fleming D R. et al . The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I.  Pediatr Transplant. 1998;  2 299-304
• 21 Guffon N. et al . Follow-up of nine patients with Hurler syndrome after bone marrow transplantation [see comments].  J Pediatr. 1998;  133 119-125
• 22 Grewal S S. et al . Outcome of second hematopoietic cell transplantation in Hurler syndrome.  Bone Marrow Transplant. 2002;  29 491-496
• 23 de Gasperi R. et al . Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy).  Bone Marrow Transplant. 2000;  25 541-544
• 24 Peters C. et al . Hematopoietic cell transplantation for Hurler syndrome: The University of Minnesota experience from 1983 to 2001.  Blood. 2001;  98 667
• 25 Summers C G. et al . Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report.  Ophthalmology. 1989;  96 977-984
• 26 Resnick J M. et al . Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation.  Bone Marrow Transplant. 1992;  10 273-280
• 27 Hugh-Jones K. et al .Long-term follow-up of children with Hurler's disease treated with bone marrow transplantation. In: COGENT. Hobbs JR (ed). London 1989; 103-111
• 28 Malone B N. et al . Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplantation.  Int J Pediatr Otorhinolaryngol. 1988;  15 23-31
• 29 Krivit W. et al . The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome.  J Inherit Metab Dis. 1995;  18 398-412
• 30 du Cret R P. et al . Resting Tl-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome.  Clin Nucl Med. 1994;  19 975-978
• 31 Braunlin E A. et al . Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome.  Am J Cardiol. 2001;  88 1075-1077
• 32 Stauffer N R. et al . Echocardiographic follow-up of Hurler syndrome after bone marrow transplantation.  Circulation. 1991;  84 (Suppl II) 462
• 33 Odunusi E. et al . Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention.  J Pediatr Orthop. 1999;  19 270-274
• 34 Van Heest A E. et al . Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders.  J Hand Surg [Am]. 1998;  23 236-243
• 35 Koc O N. et al . Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases.  Exp Hematol. 1999;  27 1675-1681
• 36 Kakkis E D. et al . Enzyme-replacement therapy in mucopolysaccharidosis I.  N Engl J Med. 2001;  344 182-188
• 37 Imaizumi M. et al . Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases.  Acta Paediatr Jpn. 1994;  36 30-36
• 38 Yamada Y. et al . Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.  Bone Marrow Transplant. 1998;  21 629-634
• 39 Bergstrom S K. et al . Long-term follow-up of a patient transplanted for Hunter's disease type II B: a case report and literature review.  Bone Marrow Transplant. 1994;  14 653-658
• 40 McKinnis E J. et al . Bone marrow transplantation in Hunter syndrome.  J Pediatr. 1996;  129 145-148
• 41 Vellodi A. et al . Long-term follow-up following bone marrow transplantation for Hunter disease.  J Inherit Metab Dis. 1999;  22 638-648
• 42 Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis II B (Hunter syndrome).  Bone Marrow Transplant. 2000;  25 1097-1099
• 43 Vellodi A. et al . Bone marrow transplantation for Sanfilippo disease type B.  J Inherit Metab Dis. 1992;  15 911-918
• 44 Gungor N, Tuncbilek E. Sanfilippo disease type B. A case report and review of the literature on recent advances in bone marrow transplantation.  Turk J Pediatr. 1995;  37 157-163
• 45 Hobbs J R. et al . [Bone marrow grafts in congenital deficiencies].  Clin Ter. 1984;  110 409-416
• 46 Powers J M. et al . The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications.  J Neuropathol Exp Neurol. 1992;  51 630-643
• 47 Moser H W. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy.  Brain. 1997;  120 1485-1508
• 48 Ronghe M D. et al . The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.  Arch Dis Child. 2002;  86 185-189
• 49 Loes D J. et al . Adrenoleukodystrophy: a scoring method for brain MR observations.  AJNR Am J Neuroradiol. 1994;  15 1761-1766
• 50 Loes D J. et al . Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations.  AJNR Am J Neuroradiol. 1994;  15 1767-1771
• 51 Melhem E R. et al . X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.  AJNR Am J Neuroradiol. 2000;  21 839-844
• 52 Wenger D A. et al .Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: The Metabolic and Molecular Bases of Inherited Disease. Valle D (ed). McGraw-Hill, New York 2001; 3669-3694
• 53 Kurtzberg J. et al . Correction of Krabbe Disease with Neonatal Hematopoietic Stem Cell Transplantation.  Biology of Blood and Marrow Transplantation. 2002;  8 97
• 54 Grewal S S. et al . Unrelated donor hematopoietic cell transplantation: marrow or umbilical cord blood?.  Blood. 2003;  101 4233-4244
• 55 Barker J N. et al . Survival after transplantation of unrelated donor umbilical cord blood is comparable to that of human leukocyte antigen-matched unrelated donor bone marrow: results of a matched-pair analysis.  Blood. 2001;  97 2957-2961
• 56 Peters C, Waye J S, Vellodi A. Hematopoietic stem cell transplantation for metachromatic leukodystrophy prior to onset of clinical signs and symptoms. In: COGENT. Stewards C (ed). London 1997; 34
• 57 Solders G, Celsing G, Hagenfeldt L. Bone marrow transplantation for adult metachromatic leukodystrophy. In: COGENT. Stewards C (ed). Middlesex, UK 1997
• 58 Fasth A. et al .Bone marrow transplantation in metachromatic leukodystrophy (MLD): disease progress in a boy despite transplantation two years before expected onset of symptoms. In: COGENT. Stewards C (ed). Middlsex, UK 1997; 24
• 59 Meikle P J. et al . Newborn screening for lysosomal storage disorders.  Southeast Asian J Trop Med Public Health. 1999;  30 (Suppl 2) 104-110
• 60 Ranierri E. et al . Pilot neonatal screening program for lysosomal storage disorders, using lamp-1.  Southeast Asian J Trop Med Public Health. 1999;  30 (Suppl 2) 111-113