Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.
Duchene muscular dystrophy
Neurology
Neuromuscular disorders
Newborn screening
Spinal muscular atrophy
Journal
World journal of pediatrics : WJP
ISSN: 1867-0687
Titre abrégé: World J Pediatr
Pays: Switzerland
ID NLM: 101278599
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
19
11
2018
accepted:
25
02
2019
pubmed:
25
3
2019
medline:
21
1
2020
entrez:
25
3
2019
Statut:
ppublish
Résumé
Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective. Newborn screening (NBS) for SMA has been recommended in the United States, and a pilot DMD NBS program is underway in Hangzhou, China. A PubMed search, limited to the past 5 years, was conducted to identify: (1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/SMA. We review the current state of approved treatments for DMD/SMA. We present recommendations regarding the future of NBS for these diseases, with a focus on the outcomes and challenges of SMA NBS in New York, USA, and the DMD NBS pilot program in Hangzhou, China. Approved treatments for DMD and SMA may change the natural history of these diseases. Long-term studies of these treatments are underway. To avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments, early identification of patients through NBS will be necessary. Establishing comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.
Sections du résumé
BACKGROUND
BACKGROUND
Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective. Newborn screening (NBS) for SMA has been recommended in the United States, and a pilot DMD NBS program is underway in Hangzhou, China.
DATA SOURCES
METHODS
A PubMed search, limited to the past 5 years, was conducted to identify: (1) therapeutic advancements for DMD/SMA approved by the United States Food and Drug Administration or the European Medicine Agency and (2) The status of NBS for DMD/SMA.
RESULTS
RESULTS
We review the current state of approved treatments for DMD/SMA. We present recommendations regarding the future of NBS for these diseases, with a focus on the outcomes and challenges of SMA NBS in New York, USA, and the DMD NBS pilot program in Hangzhou, China.
CONCLUSIONS
CONCLUSIONS
Approved treatments for DMD and SMA may change the natural history of these diseases. Long-term studies of these treatments are underway. To avoid the known diagnostic delay associated with these disorders and provide optimal effectiveness of these treatments, early identification of patients through NBS will be necessary. Establishing comprehensive follow-up plans for positively identified patients will need to be in place for NBS programs to be successful.
Identifiants
pubmed: 30904991
doi: 10.1007/s12519-019-00242-6
pii: 10.1007/s12519-019-00242-6
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
219-225Références
Neuromuscul Disord. 2002 Dec;12(10):917-25
pubmed: 12467746
Am J Med Genet A. 2005 Apr 30;134(3):295-8
pubmed: 15723292
Mol Ther. 2007 Feb;15(2):320-9
pubmed: 17235310
J Pediatr. 2009 Sep;155(3):380-5
pubmed: 19394035
Lancet Neurol. 2009 Oct;8(10):918-28
pubmed: 19713152
Sci Transl Med. 2010 Jun 9;2(35):35ra42
pubmed: 20538619
N Engl J Med. 2010 Oct 7;363(15):1429-37
pubmed: 20925545
Hum Mol Genet. 2011 Feb 15;20(4):681-93
pubmed: 21118896
Neurology. 2011 Aug 2;77(5):444-52
pubmed: 21753160
Eur J Hum Genet. 2012 Jan;20(1):27-32
pubmed: 21811307
Ann Neurol. 2012 Mar;71(3):304-13
pubmed: 22451200
Muscle Nerve. 2013 Jul;48(1):27-31
pubmed: 23483575
Pediatrics. 2013 May;131(5):e1509-14
pubmed: 23610208
Ann Neurol. 2013 Nov;74(5):637-47
pubmed: 23907995
Muscle Nerve. 2014 Oct;50(4):477-87
pubmed: 25042182
Muscle Nerve. 2015 Apr;51(4):522-32
pubmed: 25056178
Muscle Nerve. 2016 Apr;53(4):570-8
pubmed: 26260293
Pediatr Neurol. 2015 Oct;53(4):293-300
pubmed: 26260993
Ann Transl Med. 2015 Aug;3(14):204
pubmed: 26417588
Ann Neurol. 2016 Feb;79(2):257-71
pubmed: 26573217
JAMA Neurol. 2016 Jan;73(1):111-6
pubmed: 26594870
Neurology. 2016 Feb 2;86(5):465-72
pubmed: 26833937
Muscle Nerve. 2016 Oct;54(4):681-9
pubmed: 26930423
Cochrane Database Syst Rev. 2016 May 05;(5):CD003725
pubmed: 27149418
Muscle Nerve. 2016 Aug;54(2):186-91
pubmed: 27170260
Neurology. 2016 Nov 15;87(20):2123-2131
pubmed: 27566742
Neuromuscul Disord. 2017 Aug;27(8):715-722
pubmed: 28318817
Transl Neurosci. 2017 Jan 26;8:1-6
pubmed: 28400976
Contemp Clin Trials. 2017 Jul;58:34-39
pubmed: 28450193
World J Pediatr. 2017 Jun;13(3):197-201
pubmed: 28466241
Lancet. 2017 Sep 23;390(10101):1489-1498
pubmed: 28728956
N Engl J Med. 2017 Nov 2;377(18):1713-1722
pubmed: 29091557
N Engl J Med. 2017 Nov 2;377(18):1723-1732
pubmed: 29091570
J Neuromuscul Dis. 2017;4(4):293-306
pubmed: 29125504
Lancet Neurol. 2018 Mar;17(3):251-267
pubmed: 29395989
Lancet Neurol. 2018 Apr;17(4):347-361
pubmed: 29395990
Lancet Neurol. 2018 May;17(5):445-455
pubmed: 29398641
Ther Adv Neurol Disord. 2018 Feb 05;11:1756285618754501
pubmed: 29434670
Genet Med. 2018 Jun;20(6):608-613
pubmed: 29758563
BMJ Glob Health. 2018 Sep 19;3(5):e000854
pubmed: 30258653
Pediatr Pulmonol. 2019 Feb;54(2):179-185
pubmed: 30548438
Muscle Nerve. 2019 Jun;59(6):650-657
pubmed: 30706490
Cell. 1995 Jan 13;80(1):155-65
pubmed: 7813012