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Auteur van den Berg LH
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Berg (van den) LH, (Berg, LH van den)
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Muscle strength and motor function in adolescents and adults with spinal muscular atrophy
Wijngaarde CA, Stam M, Otto LAM, et al.
Neurology, 2020
Revue : Neurology Titre : Muscle strength and motor function in adolescents and adults with spinal muscular atrophy Type de document : Article Auteurs : Wijngaarde CA ; Stam M ; Otto LAM ; Bartels B ; Asselman FL ; van Eijk RPA ; van den Berg LH ; Goedee HS ; Wadman RI ; Ludo van der Pol W Editeur : United States Année de publication : 07/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32732299 / DOI : 10.1212/WNL.0000000000010540
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32732299 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Population-based analysis of survival in spinal muscular atrophy
Wijngaarde CA, Stam M, Otto LAM, et al.
Neurology, 2020, 94, 15
Revue : Neurology, 94, 15 Titre : Population-based analysis of survival in spinal muscular atrophy Type de document : Article Auteurs : Wijngaarde CA ; Stam M ; Otto LAM ; van Eijk RPA ; Cuppen I ; Veldhoen ES ; van den Berg LH ; Wadman RI ; van der Pol WL Editeur : United States Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32217777 / DOI : 10.1212/WNL.0000000000009248
N° Profil MNM : 2020032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32217777 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Natural history of lung function in spinal muscular atrophy
Wijngaarde CA, Veldhoen ES, van Eijk RPA, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 88
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Natural history of lung function in spinal muscular atrophy Type de document : Article Auteurs : Wijngaarde CA, Auteur ; Veldhoen ES ; van Eijk RPA ; Stam M ; Otto LAM ; Asselman FL ; WÃ sten-van Asperen RM ; Hulzebos EHJ ; Verweij-van den Oudenrijn LP ; Bartels B ; Cuppen I ; Wadman RI ; van den Berg LH ; van der Ent CK ; van der Pol WL Année de publication : 04/2020 Pages : p 88 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32276635 / DOI : 10.1186/s13023-020-01367-y
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32276635 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Drug treatment for spinal muscular atrophy types II and III
Wadman RI, van der Pol WL, Bosboom WM, et al.
The Cochrane database of systematic reviews, 2020, 1
Revue : The Cochrane database of systematic reviews, 1 Titre : Drug treatment for spinal muscular atrophy types II and III Type de document : Article Auteurs : Wadman RI ; van der Pol WL ; Bosboom WM ; Asselman FL ; van den Berg LH ; Iannaccone ST ; Vrancken AF Editeur : England Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale (type II) ; amyotrophie spinale proximale liée à SMN1 ; amyotrophie spinale proximale type 3 ; article de synthèse ; maladie du motoneurone ; maladie neuromusculaire ; prise en charge thérapeutique Résumé : MAIN RESULTS: The review authors found 10 randomised, placebo-controlled trials of treatments for SMA types II and III for inclusion in this review, with 717 participants. We added four of the trials at this update. The trials investigated creatine (55 participants), gabapentin (84 participants), hydroxyurea (57 participants), nusinersen (126 participants), olesoxime (165 participants), phenylbutyrate (107 participants), somatotropin (20 participants), thyrotropin-releasing hormone (TRH) (nine participants), valproic acid (33 participants), and combination therapy with valproic acid and acetyl-L-carnitine (ALC) (61 participants). Treatment duration was from three to 24 months. None of the studies investigated the same treatment and none was completely free of bias. All studies had adequate blinding, sequence generation and reporting of primary outcomes. Based on moderate-certainty evidence, intrathecal nusinersen improved motor function (disability) in children with SMA type II, with a 3.7-point improvement in the nusinersen group on the Hammersmith Functional Motor Scale Expanded (HFMSE; range of possible scores 0 to 66), compared to a 1.9-point decline on the HFMSE in the sham procedure group (P Pubmed / DOI : Pubmed : 32006461 / DOI : 10.1002/14651858.CD006282.pub5
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32006461 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Drug treatment for spinal muscular atrophy type I
Wadman RI, van der Pol WL, Bosboom WM, et al.
The Cochrane database of systematic reviews, 2019, 12
Revue : The Cochrane database of systematic reviews, 12 Titre : Drug treatment for spinal muscular atrophy type I Type de document : Article Auteurs : Wadman RI ; van der Pol WL ; Bosboom WM ; Asselman FL ; van den Berg LH ; Iannaccone ST ; Vrancken AF Editeur : England Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale (type I) ; amyotrophie spinale proximale liée à SMN1 ; article de synthèse ; maladie du motoneurone ; maladie neuromusculaire ; prise en charge thérapeutique Résumé : Résumé extrait de la "Cochrane Library"
Background
Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in combination with a point mutation in the second SMN1 allele. This results in degeneration of anterior horn cells, which leads to progressive muscle weakness. By definition, children with SMA type I are never able to sit without support and usually die or become ventilator dependent before the age of two years. There have until very recently been no drug treatments to influence the course of SMA. We undertook this updated review to evaluate new evidence on emerging treatments for SMA type I. The review was first published in 2009 and previously updated in 2011.
Objectives
To assess the efficacy and safety of any drug therapy designed to slow or arrest progression of spinal muscular atrophy (SMA) type I.
Search methods
We searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, Embase, and ISI Web of Science conference proceedings in October 2018. We also searched two trials registries to identify unpublished trials (October 2018).
Main results
We identified two RCTs: one trial of intrathecal nusinersen in comparison to a sham (control) procedure in 121 randomised infants with SMA type I, which was newly included at this update, and one small trial comparing riluzole treatment to placebo in 10 children with SMA type I.
The RCT of intrathecally‐injected nusinersen was stopped early for efficacy (based on a predefined Hammersmith Infant Neurological Examination‐Section 2 (HINE‐2) response). At the interim analyses after 183 days of treatment, 41% (21/51) of nusinersen‐treated infants showed a predefined improvement on HINE‐2, compared to 0% (0/27) of participants in the control group. This trial was largely at low risk of bias.
Final analyses (ranging from 6 months to 13 months of treatment), showed that fewer participants died or required full‐time ventilation (defined as more than 16 hours daily for 21 days or more) in the nusinersen‐treated group than the control group (hazard ratio (HR) 0.53, 95% confidence interval (CI) 0.32 to 0.89; N = 121; a 47% lower risk; moderate‐certainty evidence). A proportion of infants in the nusinersen group and none of 37 infants in the control group achieved motor milestones: 37/73 nusinersen‐treated infants (51%) achieved a motor milestone response on HINE‐2 (risk ratio (RR) 38.51, 95% CI 2.43 to 610.14; N = 110; moderate‐certainty evidence); 16/73 achieved head control (RR 16.95, 95% CI 1.04 to 274.84; moderate‐certainty evidence); 6/73 achieved independent sitting (RR 6.68, 95% CI 0.39 to 115.38; moderate‐certainty evidence); 7/73 achieved rolling over (RR 7.70, 95% CI 0.45 to 131.29); and 1/73 achieved standing (RR 1.54, 95% CI 0.06 to 36.92; moderate‐certainty evidence). Seventy‐one per cent of nusinersen‐treated infants versus 3% of infants in the control group were responders on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) measure of motor disability (RR 26.36, 95% CI 3.79 to 183.18; N = 110; moderate‐certainty evidence).
Adverse events and serious adverse events occurred in the majority of infants but were no more frequent in the nusinersen‐treated group than the control group (RR 0.99, 95% CI 0.92 to 1.05 and RR 0.70, 95% CI 0.55 to 0.89, respectively; N = 121; moderate‐certainty evidence).
In the riluzole trial, three of seven children treated with riluzole were still alive at the ages of 30, 48, and 64 months, whereas all three children in the placebo group died. None of the children in the riluzole or placebo group developed the ability to sit, which was the only milestone reported. There were no adverse effects. The certainty of the evidence for all measured outcomes from this study was very low, because the study was too small to detect or rule out an effect, and had serious limitations, including baseline differences. This trial was stopped prematurely because the pharmaceutical company withdrew funding.
Various trials and studies investigating treatment strategies other than nusinersen, such as SMN2 augmentation by small molecules, are ongoing.
Authors' conclusions
Based on the very limited evidence currently available regarding drug treatments for SMA type 1, intrathecal nusinersen probably prolongs ventilation‐free and overall survival in infants with SMA type I. It is also probable that a greater proportion of infants treated with nusinersen than with a sham procedure achieve motor milestones and can be classed as responders to treatment on clinical assessments (HINE‐2 and CHOP INTEND). The proportion of children experiencing adverse events and serious adverse events on nusinersen is no higher with nusinersen treatment than with a sham procedure, based on evidence of moderate certainty. It is uncertain whether riluzole has any effect in patients with SMA type I, based on the limited available evidence. Future trials could provide more high‐certainty, longer‐term evidence to confirm this result, or focus on comparing new treatments to nusinersen or evaluate them as an add‐on therapy to nusinersen.
Pubmed / DOI : Pubmed : 31825542 / DOI : 10.1002/14651858.CD006281.pub5
N° Profil MNM : 2019122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31825542 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.
Wijngaarde CA, Brink RC, de Kort FAS, et al.
Neurology, 2019
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Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy
van der Heul AMB, Wijngaarde CA, Wadman RI, et al.
Journal of Neuromuscular Diseases, 2019, 6, 3, p 361
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Social participation of adult patients with spinal muscular atrophy: frequency, restrictions, satisfaction and correlates
Kruitwagen-van Reenen ET, Kruitwagen-van Reenen ET, van der Pol L, et al.
Muscle & Nerve, 2018
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Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)
Stam M, Stam M, Wadman RI, et al.
BMJ Open, 2018, 8, 7
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Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4
Wadman RI, Wijngaarde CA, Stam M, et al.
European journal of neurology, 2018, 25, 3, p 512
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Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4
Wadman RI, Stam M, Gijzen M, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 4, p 365
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Cardiac pathology in spinal muscular atrophy: a systematic review
Wijngaarde CA, Blank AC, Stam M, et al.
Orphanet journal of rare diseases, 2017, 12, 1
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Correlates of health related quality of life in adult patients with Spinal Muscular Atrophy
Kruitwagen-van Reenen ET, Wadman RI, Visser-Meily JM, et al.
Muscle & Nerve, 2016, 54, 5, p 850
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Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis
Huijbers MG, Niks EH, Klooster R, et al.
Neuromuscular disorders : NMD, 2016, 26, 6, p 350
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Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia
Wadman RI, van Bruggen HW, Witkamp TD, et al.
Neurology, 2014, 83, 12, p 1060
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Prefrontal involvement related to cognitive impairment in progressive muscular atrophy
Raaphorst J, van Tol MJ, Groot PF, et al.
Neurology, 2014, 83, 9, p 818
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Drug treatment for spinal muscular atrophy type I
Wadman RI, Bosboom WMJ, van der Pol WL, et al.
Cochrane Database of Systematic Reviews, 2012, 4, CD006281, 20 p.
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Drug treatment for spinal muscular atrophy types II and III
Wadman RI, Bosboom WMJ, van der Pol WL, et al.
Cochrane Database of Systematic Reviews, 2012, 4, CD006282, 51 p.
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Dysfonction of the neuromuscular junction in spinal muscular atrophy types 2 and 3
Wadman RI, Vrancken AFJE, van den Berg LH, et al.
Neurology, 2012, 79, 20, p. 2015-2055
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Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A
Videler AJ, Beelen A, van Schaik IN, et al.
Journal of neurology, neurosurgery and psychiatry, 2010, 81, 8, p. 828-833
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A natural history study of late onset spinal muscular atrophy types 3b and 4
Piepers S, van den Berg LH, Brugman F, et al.
Journal of neurology, 2008, 255, 9, p. 1400-1404
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Clinical features of late-onset Pompe disease : a prospective cohort study
Wokke JHJ, Escolar DM, Pestronk A, et al.
Muscle & Nerve, 2008, 38, 4, p. 1236-1245
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The future of motor neuron disease. The challenge is in the genes
Veldink JH, van den Berg LH, Wokke JHJ
Journal of neurology, 2004, 251, p. 491-500
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Sporadic lower motor neuron disease with adult onset : classification of subtypes
van den Berg-Vos RM, Visser J, Franssen H, et al.
Brain, 2003, 126, 5, p. 1036-1047
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The spectrum of lower motor neuron syndromes
van den Berg-Vos RM, van den Berg LH, Visser J, et al.
Journal of neurology, 2003, 250, 11, p. 1279-1292
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