Détail de l'auteur
Auteur Iannaccone ST |
Documents disponibles écrits par cet auteur (80)



![]()
Medical management of muscle weakness in Duchenne muscular dystrophy
Rivera SR, Jhamb SK, Abdel-Hamid HZ, et al.
PLoS ONE, 2020, 15, 10
Revue : PLoS ONE, 15, 10 Titre : Medical management of muscle weakness in Duchenne muscular dystrophy Type de document : Article Auteurs : Rivera SR ; Jhamb SK ; Abdel-Hamid HZ ; Acsadi G ; Brandsema J ; Ciafaloni E ; Darras BT ; Iannaccone ST ; Konersman CG ; Kuntz NL ; McDonald CM ; Parsons JA ; Tesi Rocha C ; Zaidman CM ; Butterfield RJ ; Connolly AM ; Mathews KD Année de publication : 19/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33075081 / DOI : 10.1371/journal.pone.0240687
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33075081 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort S, Mohassel P, Laugwitz L, et al.
American journal of medical genetics. Part A, 2020
Revue : American journal of medical genetics. Part A Titre : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome Type de document : Article Auteurs : Donkervoort S ; Mohassel P ; Laugwitz L ; Zaki MS ; Kamsteeg EJ ; Maroofian R ; Chao KR ; Verschuuren-Bemelmans CC ; Horber V ; Fock AJM ; McCarty RM ; Jain MS ; Biancavilla V ; McMacken G ; Nalls M ; Voermans NC ; Elbendary HM ; Snyder M ; Cai C ; Lehky TJ ; Stanley V ; Iannaccone ST ; Foley AR ; Lochmuller H ; Gleeson J ; Houlden H ; Haack TB ; Horvath R ; Bonnemann CG Editeur : United States Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32776697 / DOI : 10.1002/ajmg.a.61765
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32776697 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell C, Barohn RJ, Bertini E, et al.
Journal of comparative effectiveness research, 2020
Revue : Journal of comparative effectiveness research Titre : Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy Type de document : Article Auteurs : Campbell C ; Barohn RJ ; Bertini E ; Chabrol B ; Comi GP ; Darras BT ; Finkel RS ; Flanigan KM ; Goemans N ; Iannaccone ST ; Jones KJ ; Kirschner J ; Mah JK ; Mathews KD ; McDonald CM ; Mercuri E ; Nevo Y ; Pereon Y ; Renfroe JB ; Ryan MM ; Sampson JB ; Schara U ; Sejersen T ; Selby K ; Tulinius M ; Vilchez JJ ; Voit T ; Wei LJ ; Wong BL ; Elfring G ; Souza M ; McIntosh J ; Trifillis P ; Peltz SW ; Muntoni F Editeur : England Année de publication : 2020 Langues : Anglais (eng) Lien associé : NCT00592553
NCT01826487Pubmed / DOI : Pubmed : 32851872 / DOI : 10.2217/cer-2020-0095
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32851872 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
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)
![]()
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)
![]()
Nusinersen in later-onset spinalmuscular atrophy : Long-term results from the phase 1/2 studies
Darras BT, Chiriboga CA, Iannaccone ST, et al.
Neurology, 2019, 92, e2492
Permalink![]()
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Permalink![]()
Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!
Bartlett A, Bartlett A, Kolb SJ, et al.
Contemporary clinical trials communications, 2018, 11, p 113
Permalink![]()
NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project
Lawlor MW, Iannaccone ST, Mathews K, et al.
Journal of Neuromuscular Diseases, 2018, 5, 1, p 75
Permalink![]()
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Mercuri E, Darras BT, Chiriboga CA, et al.
The New England journal of medicine, 2018, 378, 7, p 625
Permalink![]()
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri E, Finkel RS, Muntoni F, et al.
Neuromuscular disorders : NMD, 2017
Permalink![]()
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel RS, Mercuri E, Meyer OH, et al.
Neuromuscular disorders : NMD, 2017
Permalink![]()
Natural history of infantile-onset spinal muscular atrophy
Kolb SJ, Coffey CS, Yankey JW, et al.
Annals of neurology, 2017, 82, 6, p 883
Permalink![]()
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study
Kolb SJ, Coffey CS, Yankey JW, et al.
Annals of clinical and translational neurology, 2016, 3, 2, p 132
Permalink![]()
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy
Chiriboga CA, Swoboda KJ, Darras BT, et al.
Neurology, 2016, 86, 10, p 890
Permalink![]()
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy - Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Kang PB, Morrison L, Iannaccone ST, et al.
Neurology, 2015, 84, 13, p 1369
Permalink![]()
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Haliloglu G, Topaloglu H, Kang PB, et al.
Neurology, 2015, 85, 16, p 1432
Permalink![]()
Spinal muscular atrophy: therapeutic strategies
Castro D, Iannaccone ST
Current treatment options in neurology, 2014, 16, 11
Permalink![]()
Rasch analysis of clinical outcome measures in spinal muscular atrophy
Cano SJ, Mayhew A, Glanzman AM, et al.
Muscle & Nerve, 2014, 49, 3, p. 422-430
Permalink![]()
Congenital muscular dystrophies and congenital myopathies
Iannaccone ST, Castro D
Continuum (Minneap Minn), 2013, 19, 6, p. 1509-1534
Permalink![]()
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al.
Neurology, 2013, 81, 14, p. 1205-1214
Permalink![]()
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.
Permalink![]()
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.
Permalink![]()
Childhood spinal muscular atrophy: controversies and challenges
Mercuri E, Bertini E, Iannaccone ST
Lancet neurology, 2012, 11, 5, p. 443-452
Permalink![]()
Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy
Zimmerman A, Clemens PR, Tesi-Rocha C, et al.
Muscle & Nerve, 2011, 44, 2, p. 170-173
Permalink