Amyotrophie spinale infantile Étude multicentrique prospective et longitudinale de 168 cas suivis 4 ans

Barois, A; Mayer, M.; Desguerre, Isabelle; Chabrol, B.; Bérard, C.; Cuisset, Jean‐Marie; Leclair-Richard, D.; Visconti-Lougovoy, Jacqueline; Hatton, F; Estournet-Mathiaud, Brigitte

doi:10.1016/s0001-4079(19)33482-x

Cited by 13 publications

(4 citation statements)

References 11 publications

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“…The interpretation is difficult due to the increasing realization that the course of progression of SMA type 2 is variable in patients of different age and severity [7,8]. Some spontaneous improvements may occur in untreated type 2 young patients while after the age of 5 and until 13-14 years there is often a sharp decline with a marked loss of HFMSE scores [8][9][10]. Another study has identified the percentage of patients who would remain stable (within + 2 points) on the HFMSE or would have positive or negative changes more than 2 points in different age groups [7].…”

Section: Introductionmentioning

confidence: 99%

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Coratti

Pera

Lucibello

et al. 2020

Neuromuscular Disorders

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Section: Introductionmentioning

confidence: 99%

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Coratti

Pera

Lucibello

et al. 2020

Neuromuscular Disorders

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“…In intermediate and mild phenotypes, this early phase may then be followed by prolonged periods of relative stability, with late decline. Such a clinical pattern is rather atypical for a degenerative disease and potentially raises questions concerning disease pathogenesis [6,7].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Spinal Muscular Atrophy: Molecular Mechanisms

Farrar

Johnston²,

Grattan-Smith³

et al. 2009

CMM

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Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder characterised by muscle weakness and atrophy due to degeneration of motor neurons of the spinal cord and cranial motor nuclei. The clinical phenotype incorporates a wide spectrum. No effective treatment is currently available and patients may experience severe physical disability which is often life limiting. The most common type of SMA is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion or mutation and results in insufficient levels of survival motor neuron (SMN) protein in motor neurons. While diagnosis is usually achieved by genetic testing, an illustrative clinical case is described that highlights the molecular and diagnostic complexities. While there is an emerging picture concerning the function of the SMN protein and the molecular pathophysiological mechanisms underpinning the disease, a number of substantial issues remain unresolved. The selective vulnerability of the motor neuron and the site and timing of the primary pathogenesis are not yet determined. Utilising the organisation of the SMN genomic region, recent advances have identified a number of potential therapeutic targets. As such, this review incorporates discussion of the clinical manifestations, molecular genetics, diagnosis, mechanisms of disease pathogenesis and development of novel treatment strategies.

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“…Spinal muscular atrophy (SMA) was historically the number one genetic cause of death for infants, with an estimated incidence between 1 in 10,000 to 11,000 live births [1,2]. It is an autosomal recessive neuromuscular disease (NMD) caused by a homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene on chromosome 5q13, characterized by progressive muscle wasting and debilitating weakness [3][4][5][6][7]. The disease has been classified into subtypes based upon age of onset and motor function achieved [4,[8][9][10].…”

Section: Introductionmentioning

confidence: 99%

“…Major advances began with identification of the genes SMN1 and SMN2, the latter of which is a partially functional analog whose copy number is inversely correlated with disease severity [3,16]. Subsequent advances included development of mouse models; therapeutic target identification; emergence of new therapeutic modalities; natural history studies; development of standard of care; and establishment of reliable, sensitive, and meaningful outcome measures for SMA [4,5,7,8,15,[17][18][19][20][21][22][23][24][25][26][27][28]. These advances enabled therapeutic pipeline growth and paved the way for clinical trials in SMA, the first of which began in 2011 [5,17,29,30].…”

Section: Introductionmentioning

confidence: 99%

The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States

Peterson¹,

Cruz

Sarr³

et al. 2020

Orphanet J Rare Dis

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Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this evolving context, Cure SMA established a clinical trial readiness program for new and prospective SMA clinical trial sites. Program development was informed by a review of the SMA clinical trial landscape, successful NMD trial and care networks, and factors important to effective trial conduct in SMA. The program was piloted in 2018 with a virtual site readiness evaluation, a trial readiness toolkit, and a readiness program for physical therapists and clinical evaluators. Nine US research hospitals participated in the pilot. Cure SMA evaluated the pilot program and resources through feedback surveys, which supported the program’s relevance and value. Since 2018, the program has been expanded with additional sites, new best practices toolkits, and workshops. In partnership with Cure SMA, SMA Europe is also extending programming to European countries. The program is significant as an example of a patient advocacy group working successfully with pharmaceutical companies, other patient advocacy organizations, and research hospitals to promote trial readiness, and may serve as a model for organizations in other regions and diseases.

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Amyotrophie spinale infantile Étude multicentrique prospective et longitudinale de 168 cas suivis 4 ans

Cited by 13 publications

References 11 publications

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Spinal Muscular Atrophy: Molecular Mechanisms

The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States

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