Spinal Muscular Atrophy Type III

Dunaway, Sally; Montes, Jacqueline; Ryan, Patricia; Montgomery, Megan; Sproule, Douglas M.; Vivo, Darryl C. De

doi:10.1177/0883073811425423

Cited by 7 publications

(1 citation statement)

References 41 publications

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“…4, 5 In type I SMA, earlier age of onset is associated with worse prognosis and mortality6; the median age to death or ventilation (>16 hours per day) is 13.5 months and 10.5 months for patients with 2 copies of SMN2 5. Patients with SMA type II have a better prognosis than those with type I disease, with 93% surviving to 25 years 6.…”

Section: Progress In Understanding the Natural History Of Smamentioning

confidence: 99%

Emerging therapies and challenges in spinal muscular atrophy

Farrar

Park

Vucic

et al. 2017

Annals of Neurology

181

170

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Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). Without disease‐modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history, and recognition of the impact of standardized care on outcomes has yielded progress toward the development of novel therapeutic strategies and are summarized. Therapeutic strategies in the pipeline are appraised, ranging from SMN1 gene replacement to modulation of SMN2 encoded transcripts, to neuroprotection, to an expanding repertoire of peripheral targets, including muscle. With the advent of preliminary trial data, it can be reasonably anticipated that the SMA treatment landscape will transform significantly. Advancement in presymptomatic diagnosis and screening programs will be critical, with pilot newborn screening studies underway to facilitate preclinical diagnosis. The development of disease‐modifying therapies will necessitate monitoring programs to determine the long‐term impact, careful evaluation of combined treatments, and further acceleration of improvements in supportive care. In advance of upcoming clinical trial results, we consider the challenges and controversies related to the implementation of novel therapies for all patients and set the scene as the field prepares to enter an era of novel therapies. Ann Neurol 2017;81:355–368

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Section: Progress In Understanding the Natural History Of Smamentioning

confidence: 99%

Emerging therapies and challenges in spinal muscular atrophy

Farrar

Park

Vucic

et al. 2017

Annals of Neurology

181

170

View full text Add to dashboard Cite

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Newborn screening for spinal muscular atrophy: The views of affected families and adults

Boardman

Young

Griffiths

2017

American J of Med Genetics Pt A

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Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson‐Jungner criteria. While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have been largely overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis. We have previously reported data on attitudes toward pre‐conception and prenatal genetic screening for SMA among affected families (adults with SMA [n = 82] and family members [n = 255]). Here, using qualitative interview [n = 36] and survey data [n = 337], we report the views of this same cohort toward newborn screening. The majority (70%) of participants were in favor, however, all subgroups (except adults with type II) preferred pre‐conception and/or prenatal screening to newborn screening. Key reasons for newborn screening support were: (1) the potential for improved support; (2) the possibility of enrolling pre‐symptomatic children on clinical trials. Key reasons for non‐support were: (1) concerns about impact on the early experiences of the family; (2) inability to treat. Importantly, participants did not view the potential for inaccurate typing as a significant obstacle to the launch of a population‐wide screening program. This study underscores the need to include families affected by genetic diseases within consultations on screening. This is particularly important for conditions such as SMA which challenge traditional screening criteria, and for which new therapeutics are emerging.

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The Genetics of Spinal Muscular Atrophy: Progress and Challenges

2015

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Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The clinical and genetic phenotypes incorporate a wide spectrum that is differentiated based on age of onset, pattern of muscle involvement, and inheritance pattern. Over the past several years, rapid advances in genetic technology have accelerated the identification of causative genes and provided important advances in understanding the molecular and biological basis of SMA and insights into the selective vulnerability of the motor neuron. Common pathophysiological themes include defects in RNA metabolism and splicing, axonal transport, and motor neuron development and connectivity. Together these have revealed potential novel treatment strategies, and extensive efforts are being undertaken towards expedited therapeutics. While a number of promising therapies for SMA are emerging, defining therapeutic windows and developing sensitive and relevant biomarkers are critical to facilitate potential success in clinical trials. This review incorporates an overview of the clinical manifestations and genetics of SMA, and describes recent advances in the understanding of mechanisms of disease pathogenesis and development of novel treatment strategies.

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Spinal Muscular Atrophy Type III

Cited by 7 publications

References 41 publications

Emerging therapies and challenges in spinal muscular atrophy

Emerging therapies and challenges in spinal muscular atrophy

Newborn screening for spinal muscular atrophy: The views of affected families and adults

The Genetics of Spinal Muscular Atrophy: Progress and Challenges

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