Nusinersen for SMA: expanded access programme

Farrar, Michelle A.; Teoh, Hooi Ling; Carey, Kate A.; Cairns, Anita; Forbes, Robin; Herbert, Karen; Holland, Sandra; Jones, Kristi; Menezes, Manoj P.; Morrison, Margot; Munro, Kate; Villano, D.; Webster, Richard; Woodcock, Ian R; Yiu, Eppie M; Sampaio, Hugo; Ryan, Monique M.

doi:10.1136/jnnp-2017-317412

Cited by 74 publications

(59 citation statements)

References 21 publications

(11 reference statements)

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“…The mechanism of action is thought to be the inhibition of GABAergic nerves by tetanospasmin. 1,3,6,7 Appropriate treatment for tetanus ameliorated the headache, which is consistent with this hypothesis.…”

Section: Discussionsupporting

confidence: 83%

“…1 However, 21.7%-26% of all cases of tetanus are not accompanied by trauma, and in these cases, tetanus must be diagnosed and treated from the onset of initial symptoms. 2,3 Trismus is a pathognomonic symptom in tetanus, appearing in more than half of all cases, 5 and its presence makes diagnosis easier. Cases with rare symptoms are much more difficult to diagnose, and this may delay the start of treatment.…”

Section: Introductionmentioning

confidence: 99%

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A case of atraumatic tetanus developed initially with worsening headache in a woman regularly cared for chronic headache at an outpatient clinic

Tobinaga

Suzuki

Nakajima

2019

Clinical Case Reports

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Section: Discussionsupporting

confidence: 83%

Section: Introductionmentioning

confidence: 99%

A case of atraumatic tetanus developed initially with worsening headache in a woman regularly cared for chronic headache at an outpatient clinic

Tobinaga

Suzuki

Nakajima

2019

Clinical Case Reports

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“…). In the German and Australian open‐label studies, 3.3% (2 of 61) and 3 of 16 patients treated with nusinersen were able to sit independently respectively after 6 months. Because of a longer follow‐up of 14 months, we observed a remarkably higher percentage of sitters (15 of 47) than reported for previous studies.…”

Section: Discussionmentioning

confidence: 99%

“…Choosing a scale for an objective evaluation of this cohort is challenging. Although the HINE‐2 was developed for infants aged 0 to 24 months, it has become a widely used assessment tool for patients with SMA . In contrast, the CHOP‐INTEND was validated in patients of a broad age range .…”

Section: Discussionmentioning

confidence: 99%

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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Aragon-Gawinska

Daron

Ulinici

et al. 2019

Develop Med Child Neuro

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Aim To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Method Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non‐sitters after 14 months of therapy as a function of baseline level, SMN2 copy number, age at treatment initiation, and improvement at 2 and 6 months post‐treatment initiation. We used Hammersmith Infant Neurological Examination, Section 2 (HINE‐2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders for motor evaluation. Results Fifty children (22 females, 28 males), mean age 22 months (SD 20.7; range 2.5–102.8mo) were treated. Data on sitting position acquisition were collected for 47 patients at month 14. Fifteen patients were able to sit unassisted; 11 of 15 had a baseline HINE‐2 score of at least 2 points and 11 of 14 had an improvement over baseline of at least 2 points at month 6. Patients who improved by 2 or more points at month 6 were three times more likely to be sitters at month 14 than those who did not. Interpretation High baseline motor function and improvement in HINE‐2 score after 6 months of treatment are associated with the probability of acquiring a sitting position in patients with SMA1 treated with nusinersen. What this paper adds Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen. The number of SMN2 copies were not predictive of acquisition of a sitting position. Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition.

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Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen

Lee

Park

Lee

et al. 2021

Ann Clin Transl Neurol

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SMA type 1 is the most severe type, characterized by early onset at <6 months of age, and rapid progression resulting in permanent assisted ventilation before 2 years of life. Supportive care was the only treatment until the approval of nusinersen, an antisense oligonucleotide drug that increases functional SMN protein levels. We present a case of successful weaning from permanent ventilation via tracheostomy with nusinersen in an infant who had been diagnosed with SMA type 1 at the age of one month and had become ventilator‐dependent from the age of 3 months.

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Nusinersen for SMA: expanded access programme

Cited by 74 publications

References 21 publications

A case of atraumatic tetanus developed initially with worsening headache in a woman regularly cared for chronic headache at an outpatient clinic

A case of atraumatic tetanus developed initially with worsening headache in a woman regularly cared for chronic headache at an outpatient clinic

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen

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