nach oben

Journal of Inherited Metabolic Disease

Erschienen in:

01.02.2018 | Review Article

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

verfasst von: Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M. Yoshida

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2018

Einloggen, um Zugang zu erhalten

Abstract

Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children. Despite similar disease specific indications, the actual spectrum of diseases for which transplantation is used differs between these age groups and this is partly related to the natural history of disease. There are diseases (such as urea cycle defects and X-linked adrenoleukodystrophy) for which transplantation is recommended for selected symptomatic patients as a treatment strategy in both adults and children. In those diseases, the frequency with which transplantation is used in adults is lower than in children and this may be related in part to a reduced awareness of transplantation as a treatment strategy amongst adult clinicians as well as limited donor availability and allocation policies which may disadvantage adult patients with IMDs. Risks of transplantation and disease-specific prognostic factors influencing outcomes also differ with age. We review the use of transplantation as a disease modifying strategy in adults focusing on how this differs from use in children to highlight areas for future research.

Adam R, Karam V, Delvart V et al (2012) Evolution of indications and results of liver transplantation in Europe. A report from the European liver transplant registry. J Hepatol 57:675–688CrossRef

Al-Shamsi A, Baker A, Dhawan A, Hertecant J (2016) Acute metabolic crises in maple syrup urine disease after liver transplantation from a related heterozygous living donor. JIMD Rep. https://doi.org/10.10007/8904_2016_532

Aoudjhane M, Gorin NC, Labopin M et al (2005) Comparative outcome of reduced intensity and myeloablative conditioning regimen in HLA identical sibling allogeneic haematopoietic stem cell transplantation for patients older than 50 years of age with acute myeloblastic leukaemia: a retrospective survey from the acute Leukemia working party (ALWP) of the European group for blood and marrow transplantation (EBMT). Blood 106:1139CrossRef

Arnon R, Annuziato R, Schilsky M et al (2011) Liver transplantation for children with Wilson diseae: comparison of outcomes between children and adults. Clin Transpl 25:E52–E60CrossRef

Aubourg P, Blanche S, Jambaqué I et al (1990) Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322:1860–1866CrossRef

Baird K, Cooke K, Schultz KR (2010) Chronic graft versus host disease (GVHD) in children. Pediatr Clin N Am 57:297–322CrossRef

Bayever E, August CS, Kamani N et al (1992) Allogeneic bone marrow transplantation for Niemann–pick disease (type IA). Bone Marrow Transplant 10:85–86PubMed

Bernardo ME, Aiuti A (2016) The role of conditioning in hematopoietic stem cell gene therapy. Hum Gene Ther 27:741–748CrossRef

Boelens JJ, van Hasselt PM (2016) Neurodevelopmental outcome after hematopoietic cell transplantation in inborn errors of metabolism: current considerations and future perspectives. Neuropediatrics 47:285–292CrossRef

Cartier N, Hacein-Bey-Abina S, Bartholomae CC et al (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326:818–823CrossRef

Center for International Blood and Marrow Transplant Research (CIBMTR) (2017) Transplant Activity Report covering 2010–2014. www.cibmtr.org. Accessed 23 June 2017

Chandler RJ, Venditti CP (2016) Gene therapy for metabolic diseases. Transl Sci Rare Dis 1:73–89PubMedPubMedCentral

Chiche L, David A, Adam R et al (2016) Liver transplantation for adenomatosis: European experience. Liver Transpl 22:516–526CrossRef

Chinen Y, Higa T, Tomatsu S, Suzuki Y, Orii T, Hyakuna N (2014) Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Mol Genet Metab Rep 1:31–41CrossRef

Croome KP, Lee DD, Burns JM et al (2016) Outcomes from liver transplantation with liver grafts from pediatric donors used in adult recipients. Liver Transpl 22:1099–1106CrossRef

de Beer M, Engelen M, van Geel BM (2014) Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology 83:2227–2231CrossRef

De Giorgio R, Pironi L, Boschetti E et al (2016) Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Ann Neurol 80:448–455CrossRef

Eapen M, Ahn KW, Orchard PJ et al (2012) Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biol Blood Marrow Transpl 18:1438–1445CrossRef

European Association for the Study of the Liver (2016) EASL clinical practice guidelines: liver transplantation. J Hepatol 64:433–485CrossRef

Fagiuoli S, Daina E, D’Antiga L, Colledan M, Remuzzi G (2013) Monogenic diseases that can be cured by liver transplantation. J Hepatol 59:5995–5612CrossRef

Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O (1999) Long-term outcome of liver transplantation in patients with glycogen storage disease type 1a. J Inher Metab Dis 22:723–732CrossRef

Haberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orph J Rare Dis 7:32CrossRef

Halter JP, Schupback MM, Mandel H et al (2015) Allogeneic haemoatopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain 138:2847–2858CrossRef

Hirano M, Martí R, Casali C et al (2006) Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67:1458–1460CrossRef

Hobbs JR, Hugh-Jones K, Barrett AJ et al (1981) Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 2:709–712CrossRef

Hsu YS, Hwu WL, Huang SF et al (1999) Niemann–pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant 24:103–107CrossRef

Hynynen J, Komulainen T, Tukiainen E et al (2014) Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. Liver Transpl 20:1402–1412CrossRef

Ibars EP, Cortes M, Tolosa L et al (2016) Hepatocyte transplantation program: lessons learned and future strategies. World J Gastroenterol 22:874–886CrossRef

Iyer SG, Chen CL, Wang CC et al (2007) Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl 13:848–852CrossRef

Jacobsohn DA, Duerst R, Tse W, Kletzel M (2004) Reduced intensity haemopoietic stem-cell transplantation for treatment of non-malignant diseases in children. Lancet 364:156–162CrossRef

Jochmans I, van Rosmalen M, Pierenne J, Samuel U (2017) Adult liver allocation in Eurotransplant. Transplantation 101:1542–1550CrossRef

Kamin DS, Freiberger D, Daly KP et al (2016) What is the role of developmental disability in patient selection for pediatric solid organ transplantation. Am J Transplant 16:767–772CrossRef

Kasahara M, Horikawa R, Sakamoto S et al (2009) Living donor liver transplantation for glycogen storage disease type 1b. Liver Transpl 15:1867–1871CrossRef

Kasahara M, Horikawa R, Tagawa M et al (2006) Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediat Transpl 10:943–947CrossRef

Kato S, Yabe H, Takahakura H et al (2016) Hematopoietic stem cell transplantation for inborn errors ofmetabolism: a report from the research committee on transplantation for inborn errors of metabolism of the Japanese Ministry of Health, Labour and Welfare and the working Group of the Japan Society for hematopoietic cell transplantation. Pediatr Transplant 20:203–214CrossRef

Kharbanda A, Panoskaltsis-Mortari A, Haddad IY et al (2006) Inflammatory cytokines and the development of pulmonary complications after hematopoietic stem cell transplantation in patients with inherited metabolic storage disorders. Biol Blood Marrow Transpl 12:430–437CrossRef

Kishnani PS, Austin SL, Abdenur JE et al (2014) Diagnosis and management of glycogen storage disease type 1: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. https://doi.org/10.1038/gim.2014.128

Knoll G, Cockfield S, Blydt-Hansen T et al (2005) Canadian Society of Transplantation consensus guidelines on eligibility for kidney transplantation. CMAJ 173:S1–25CrossRef

Krivit W, Aubourg P, Shapiro E, Peters C (1999) Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and hurler syndrome. Curr Opin Hematol 6:377–382CrossRef

Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG (1995) The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and hurler syndrome. J Inherit Metab Dis 18:398–412CrossRef

Krivit W, Shapiro E, Kennedy W et al (1990) Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 322:28–32CrossRef

Krivit W, Shapiro EG, Peters C et al (1998) Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med 338:1119–1126CrossRef

Kuhl JS, Suarez F, Gillett GT et al (2017) Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. Brain 140:953–956CrossRef

Liver Advisory Group of the National Health Service Blood and Transplant (2017) Liver transplant: selection criteria and recipient registration. http://odt.nhs.uk/pdf/liver_selection_policy.pdf. Accessed 10 July 2017

Maguire AM, High KA, Auricchio A et al (2009) Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial. Lancet 274:1597–1605CrossRef

Maheshwari A, Rankin R, Segev DL, Thuluvath PJ (2012) Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of the literature. Clin Transpl 26:432–436CrossRef

Martin P, DiMartini A, Feng S, Brown R, Fallon M (2014) Evaluation for liver transplantation in adults: 2013 practice guideline by the American Association for the Study of Liver Diseases and the American Society of Transplantation. Hepatology 59:1144–1163CrossRef

McGovern MM, Ludman MD, Short MP et al (1986) Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser 22:41–53PubMed

McKiernan P (2013) Liver transplantation and cell therapies for inborn errors of metabolism. J Inherit Metab Dis 36:675–680CrossRef

McKiernan PJ (2017) Recent advances in liver transplantation for metabolic disease. J Inherit Metab Dis 40:491–495CrossRef

Medici V, Mirante VG, Fassati LR et al (2005) Liver transplantation for Wilson’s disease: the burden of neurological and psychiatric disorders. Liver Transpl 11:1056–1063CrossRef

Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery A, Van den Veyver I (2010) Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol 27:775–784CrossRef

Meyburg J, Hoffmann GF (2008) Liver cell transplantation for the treatment of inborn errors of metabolism. J Inherit Metab Dis 31:164–172CrossRef

Moini M, Mistry P, Schilsky ML (2010) Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Transplant 15:269–276CrossRef

Morioka D, Kasahara M, Takada Y et al (2005) Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. Liver Transpl 11:1332–1342CrossRef

Moser HW, Tutschka PJ, Brown FR et al (1984) Bone marrow transplant in adrenoleukodystrophy. Neurology 34:1410–1417CrossRef

Mynarek M, Tolar J, Albert MH et al (2012) Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. Bone Marrow Transplant 47:352–359CrossRef

Neuberger J, Gimson A, Davies M et al (2008) Selection of patients for liver transplantation and allocation of donated livers in the UK. Gut 57:252–257CrossRef

O’Brien TA, Eastlund T, Peters C et al (2004) Autoimmune haemolytic anaemia complicating haematopoietic cell transplantation in paediatric patients: high incidence and significant mortality in unrelated donor transplants for non-malignant diseases. Br J Haematol 127:67–75CrossRef

Oishi K, Arnon R, Wasserstein MP, Diaz GA (2016) Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, and perioperative management. Pediatr Transplant 20:756–769CrossRef

Organ Procurement Transplant Network (OPTN) (2015) Guidance on MELD PELD exception review. https://optn.transplant.hrsa.gov/resources/by-organ/liver-intestine/guidance-on-meld-peld-exception-review/. Accessed 10 July 2017

Organ Procurement Transplant Network (OPTN). https://optn.transplant.hrsa.gov/data/view-data-reports/build-advanced/. Accessed 22 August 2017

Patient Centered Outcomes Research Institute. Comparative Effectiveness of Therapy in Rare Diseases: Liver Transplantation vs. Conservative Management of Urea Cycle Disorders. http://www.pcori.org/research-results/2015/comparative-effectiveness-therapy-rare-diseases-liver-transplantation-vs Accessed 10 July 2017

Penati R, Fumagalli F, Calbi V, Bernardo ME, Aiuti A (2017) Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccharidosis 1. J Inherit Metab Dis 40:543–554CrossRef

Perito ER, Rhee S, Roberts JP, Rosenthal P (2014) Pediatric liver transplantation for urea cycle disorders and organic acidemias: united network for organ sharing data for 2002-12. Liver Transpl 20:89–99CrossRef

Peters C, Charnas LR, Tan Y et al (2004) Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104:881–888CrossRef

Pham TA, Enns GM, Esquivel CO (2016) Living donor liver transplantation for inborn errors of metabolism – an underutilized resource in the United States. Pediatr Transplant 20:770–773CrossRef

Popescu I, Dima SO (2012) Domino liver transplantation: how far can be push the paradigm? Liver Transpl 18:22–28CrossRef

Raper SE, Chirmule N, Lee FS et al (2003) Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol Genet Metab 80:148–158CrossRef

Rappeport JM, Ginns EI (1984) Bone-marrow transplantation in severe Gaucher’s disease. N Engl J Med 311:84–88CrossRef

Reddy SK, Austin SL, Spencer-Manzon M et al (2009) Liver transplantation for glycogen storage disease type 1a. J Hepatol 51:483–490CrossRef

Robbins-Callahan L for the OPTN/UNOS Liver and Intestinal Organ Transplantation Committee. Proposal to establish a national liver review board. https://optn.transplant.hrsa.gov/media/2085/liver_pcproposal_review_board_policy_201701.pdf. Accessed 10 July 2017

Schielke A, Conti F, Goumard C, Perdiagao F, Calmus Y, Scatton O (2015) Liver transplantation using grafts with rare metabolic disorders. Dig Liver Dis 47:261–270CrossRef

Schilsky ML (2013) Transplantation for inherited metabolic disorders of the liver. Transplant Proc 45:455–462CrossRef

Sessa M, Lorioli L, Fumagalli F et al (2016) Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase ½ trial. Lancet 388:476–487CrossRef

Sharp ME, Laule C, Nantel S et al (2012) Stem cell transplantation for adult-onset krabbe disease: report of a case. JIMD Rep 10:57–59CrossRef

Sirrs SM, Faghfoury H, Yoshida EM, Geberhiwot T (2013) Barriers to transplantation in adults with inborn errors of metabolism. JIMD Rep 8:139–144CrossRef

Solders G, Celsing G, Hagenfeldt L (1997) Bone marrow transplantation for adult metachromatic leukodystrophy. In: Ringden O, Hobbs JR, Stewards C (eds) Correction of genetic diseases by transplantation IV. The COGENT Press, Middlesex, pp 32–33

Sorror ML, Logan BR, Zhu X et al (2015) Prospective validation of the predictive power of the hematopoietic cell transplantation comorbidity index: a Center for International Blood and Marrow Transplant research study. Biol Blood Marrow Transpl 21:1479–1487CrossRef

Tanaka A, Okuyama T, Suzuki Y et al (2012) Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab 107:513–520CrossRef

The Transplantation Society of Australia and New Zealand (2017) Clinical guidelines for organ transplantation from deceased donors: version 1. https://www.tsanz.com.au/organallocationguidelines/documents/ClinicalGuidelinesV1.1May2017.pdf. Accessed 26 July 2017

Thomas ED, Buckner CD, Banaji M et al (1977) One hundred patients with acute leukemia treated by chemotherapy, total body irradiation, and allogeneic marrow transplantation. Blood 49:511–533PubMed

Turbeville S, Nicely H, Rizzo JD et al (2011) Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab 102:111–115CrossRef

U.S Transplant data by donor type. https://bloodcell.transplant.hrsa.gov/about/advisory_council/meetings/horowitz-hapl0.pdf. Accessed 7 Sept 2017

U.S. Transplant data by disease report. www.bloodcell.transplant.hrsa.gov/RESEARCH/Transplant_Data/. Accessed 23 June 2017

U.S. Transplant data by patient survival report. https://bloodcell.transplant.hrsa.gov/RESEARCH/Transplant_Data/US_Tx_Data/Survival_Data/survival.aspx. Accessed 3 January 2018

Vellodi A, Hobbs JR, O’Donnell NM et al (1987) Treatment of Niemann-pick disease type B by allogeneic bone marrow transplantation. Br Med J (Clin Res Ed) 295:1375–1376CrossRef

Walker G, Hussaini T, Stowe R, Cresswell S, Yoshida EM (2016) Liver transplant can resolve severe neuropsychiatric manifestations of Wilson disease: a case report. Exp Clin Transpl. https://doi.org/10.6002/ect2016.0053

Willot S, Marchand V, Rasquin A, Alvarez F, Martin SR (2010) Systemic progression of type IV glycogen storage disease after liver transplantation. J Pediatr Gastroenterol Nutr 51:661–664CrossRef

Yamada Y, Kato K, Sukegawa K et al (1998) Treatment of MPSVII (sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant 21:629–634CrossRef

Titel: Transplantation as disease modifying therapy in adults with inherited metabolic disorders
verfasst von: Sandra Sirrs
Fady Hannah-Shmouni
Stephen Nantel
James Neuberger
Eric M. Yoshida
Publikationsdatum: 01.02.2018
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2018
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-018-0141-z

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

24.04.2024 | DGIM 2024 | Kongressbericht | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Abstract

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Metformin rückt in den Hintergrund

Myokarditis nach Infekt – richtig schwierig wird es bei Profisportlern

Thrombophiliescreening – Wenn, dann richtig und nur bei therapeutischer Konsequenz

Bei Senioren mit Prostatakarzinom auf Anämie achten!

Update Innere Medizin

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2018

Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia

Organic acidurias in adults: late complications and management

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

The phenotype of adult versus pediatric patients with inborn errors of metabolism

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Metformin rückt in den Hintergrund

Myokarditis nach Infekt – richtig schwierig wird es bei Profisportlern

Thrombophiliescreening – Wenn, dann richtig und nur bei therapeutischer Konsequenz

Bei Senioren mit Prostatakarzinom auf Anämie achten!

Update Innere Medizin