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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: 38613540Free PMC Article
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
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA
J Neurosci Res 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PMID: 27638593

Recent clinical studies

Etiology

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: 38613540Free 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
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA
J Neurosci Res 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PMID: 27638593
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
Early motor development in metachromatic leucodystrophy.
Zlotogora J, Costeff H, Elian E
Arch Dis Child 1981 Apr;56(4):309. doi: 10.1136/adc.56.4.309. PMID: 6166252Free PMC Article

Diagnosis

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: 38613540Free PMC Article
Pearls & Oy-sters: Tumefactive Demyelinating Lesions With MOG Antibodies Preceding Late Infantile Metachromatic Leukodystrophy.
Olivé-Cirera G, Martínez-González MJ, Armangué T
Neurology 2022 Nov 7;99(19):858-861. doi: 10.1212/WNL.0000000000201230. PMID: 36041866
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
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P, Rafi MA, Rao HZ, Wenger DA
Gene 2013 Nov 10;530(2):323-8. Epub 2013 Aug 31 doi: 10.1016/j.gene.2013.08.065. PMID: 24001781
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

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
Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report.
Toldo I, Carollo C, Battistella PA, Laverda AM
Neuroradiology 2005 Aug;47(8):572-5. Epub 2005 Jul 15 doi: 10.1007/s00234-005-1369-5. PMID: 16021442

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
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
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA
J Neurosci Res 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PMID: 27638593
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
Early motor development in metachromatic leucodystrophy.
Zlotogora J, Costeff H, Elian E
Arch Dis Child 1981 Apr;56(4):309. doi: 10.1136/adc.56.4.309. PMID: 6166252Free PMC Article

Clinical prediction guides

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
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA
J Neurosci Res 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PMID: 27638593
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
A simple chromogenic assay for arylsulfatase A.
Lee-Vaupel M, Conzelmann E
Clin Chim Acta 1987 Apr 30;164(2):171-80. doi: 10.1016/0009-8981(87)90068-4. PMID: 2885112

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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