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Late infantile CACH syndrome

MedGen UID:
1826172
•Concept ID:
C5680648
•
Disease or Syndrome
Synonym: late infantile CACH syndrome
 
Monarch Initiative: MONDO:0015520
Orphanet: ORPHA157716

Professional guidelines

PubMed

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
Cytotherapy 2024 Jul;26(7):739-748. Epub 2024 Apr 1 doi: 10.1016/j.jcyt.2024.03.487. PMID: 38613540
Clinical management of Krabbe disease.
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K
J Neurosci Res 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. PMID: 27638597
Developing treatment options for metachromatic leukodystrophy.
Batzios SP, Zafeiriou DI
Mol Genet Metab 2012 Jan;105(1):56-63. Epub 2011 Oct 18 doi: 10.1016/j.ymgme.2011.10.002. PMID: 22078456

Recent clinical studies

Etiology

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Beerepoot S, Heijst H, Roos B, Wamelink MMC, Boelens JJ, Lindemans CA, van Hasselt PM, Jacobs EH, van der Knaap MS, Teunissen CE, Wolf NI
Brain 2022 Mar 29;145(1):105-118. doi: 10.1093/brain/awab304. PMID: 34398223Free PMC Article
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Krabbe disease--clinical profile.
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329

Diagnosis

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
van Rappard DF, Boelens JJ, Wolf NI
Best Pract Res Clin Endocrinol Metab 2015 Mar;29(2):261-73. Epub 2014 Oct 16 doi: 10.1016/j.beem.2014.10.001. PMID: 25987178
Metachromatic leukodystrophy--an update.
Gieselmann V, Krägeloh-Mann I
Neuropediatrics 2010 Feb;41(1):1-6. Epub 2010 Jun 22 doi: 10.1055/s-0030-1253412. PMID: 20571983
Krabbe disease--clinical profile.
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329

Therapy

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.
Beerepoot S, Boelens JJ, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, van der Knaap MS, Bugiani M, Wolf NI
J Neurol 2024 Jul;271(7):4028-4038. Epub 2024 Apr 2 doi: 10.1007/s00415-024-12322-3. PMID: 38564053Free PMC Article
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, Dusenbery K, Lockman LA
N Engl J Med 1998 Apr 16;338(16):1119-26. doi: 10.1056/NEJM199804163381605. PMID: 9545360

Prognosis

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
Liaw HR, Lee HF, Chi CS, Tsai CR
Orphanet J Rare Dis 2015 Nov 9;10:144. doi: 10.1186/s13023-015-0363-1. PMID: 26553228Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Krabbe disease--clinical profile.
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329

Clinical prediction guides

An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
Sevin C, Barth M, Wilds A, Afriyie A, Walz M, Dillon A, Howie K, Pang F
Orphanet J Rare Dis 2022 Sep 2;17(1):329. doi: 10.1186/s13023-022-02501-8. PMID: 36056437Free PMC Article
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Developing treatment options for metachromatic leukodystrophy.
Batzios SP, Zafeiriou DI
Mol Genet Metab 2012 Jan;105(1):56-63. Epub 2011 Oct 18 doi: 10.1016/j.ymgme.2011.10.002. PMID: 22078456

Recent systematic reviews

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.
Chang SC, Eichinger CS, Field P
Eur J Med Res 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1. PMID: 38494502Free PMC Article
A systematic review on the birth prevalence of metachromatic leukodystrophy.
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y
Orphanet J Rare Dis 2024 Feb 21;19(1):80. doi: 10.1186/s13023-024-03044-w. PMID: 38383398Free PMC Article
The clinical spectrum of late-onset Alexander disease: a systematic literature review.
Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G
J Neurol 2010 Dec;257(12):1955-62. Epub 2010 Aug 20 doi: 10.1007/s00415-010-5706-1. PMID: 20721574
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
J Child Neurol 2010 May;25(5):572-80. Epub 2009 Dec 28 doi: 10.1177/0883073809341669. PMID: 20038527Free PMC Article

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