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Spinal Muscular Atrophy News | Zolgensma | Evrysdi | Spinraza | iPharmaCenter

Recent data reveals that advances in NHS treatment have substantially improved the survival rates of babies born with spinal muscular atrophy (SMA). This genetic condition affects around 70 children annually in the UK, leading to muscle weakness, progressive loss of movement, and paralysis.

Prior research from the US indicated that, in the absence of treatment options, less than 8% of children with the most prevalent form of SMA, SMA type 1 (SMA1), survived the past 20 months without requiring permanent ventilatory support. However, the landscape has dramatically shifted with the introduction of innovative treatments within the NHS. A recent study by the national SMA Research and Clinical Hub (SMA REACH UK) database demonstrates that an impressive 73% of UK children with SMA1 now surpass the age of two, indicating substantial progress.

The SMA REACH UK analysis also showcases a considerable decrease in SMA1-related deaths within the UK. Over five years, from March 2018 to March 2023, only 11 deaths were recorded nationwide. This starkly contrasts with the previous decade, during which England experienced around 25 SMA1-related deaths yearly, as reported by ONS data from 2008 to 2017.

The introduction of three groundbreaking SMA treatments on the NHS since 2019 has been instrumental in this positive trend. These medications have been secured through significant commercial agreements to ensure widespread access for SMA patients throughout the UK. Amanda Pritchard, NHS chief executive, commended the impact of these treatments, highlighting the extended lifespans and improved quality of life they offer to affected children.

The data from the SMA REACH UK database in late 2022 disclosed that, out of 161 SMA1 patients observed in November 2022, 118 had surpassed the age of two without requiring permanent ventilatory assistance. Additionally, the database includes numerous infants under two years old at the time of analysis, suggesting that they, too, are likely to achieve this milestone.

A pivotal factor in these improved outcomes has been the introduction of nusinersen (marketed as Spinraza), an injectable drug that targets the underlying cause of SMA. This treatment became available through the NHS in England during the summer of 2019. Subsequent to this, gene therapy Zolgensma and oral medication risdiplam were added to the NHS's arsenal in 2021, ensuring comprehensive treatment options for SMA patients across all three types (1, 2, and 3). Continued data collection is expected to reveal further positive impacts from these therapies.

A recent study published in the Muscle & Nerve journal has also presented encouraging findings regarding the effect of nusinersen on enhancing children's quality of life. The study, known as NURTURE, demonstrated that all children who received treatment before symptom onset remained alive five years later, with over 90% achieving independent walking ability. This affirms the substantial progress made in managing SMA through NHS treatment initiatives.


October 11, 2022

Genentech presented Evrysdi's data in previously-treated children with spinal muscular atrophy.

Genentech announced new two-year data of the JEWELFISH study, evaluating Evrysdi (risdiplam) in children pre-treated with other approved SMA treatments, including Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec). The study was conducted in individuals with Type 1, 2, or 3 SMA.

Treatment with Evrysdi improved motor function and increased SMN protein levels, and the efficacy was sustained after two years of treatment.

Genentech announced that it enrolled the widest patient pool range in the JEWELFISH trial. The safety was consistent with the previously reported profile.

More than 7,000 infants, children, and adults have been treated with Evrysdi.


April 29, 2022

Evrysdi improved survival and motor milestones in infants with type 1 SMA

Roche announced that Evrysdi (risdiplam) improved survival and motor milestones in infants with type 1 spinal muscular atrophy (SMA).

In the FIREFISH study, 91% of infants who were treated with Evrysdi were alive after three years. The infants showed improvement in motor functions, ability to swallow, sit without support, and stand with support between two to three years.

In the FIREFISH, there are two parts, Part-1 includes identifying the dose, and Part-2 evaluates the safety and efficacy of the dose determined in Part-1.


Novartis presented new data of Zolgensma; demonstrating efficacy in presymptomatic and symptomatic infants with SMA

Novartis presented the data of Zolgensma (onasemnogene abeparvovec) in presymptomatic and symptomatic infants with spinal muscular atrophy (SMA). SPR1NT is Phase 3, an open-label, single-arm study.

All children who are presymptomatic in SPR1NT two-copy cohort survived with respiratory or nutritional support. Eleven out of fourteen infants with SMA could sit independently for ≥30 seconds, which falls within the WHO window of normal development.

Among the symptomatic children, 82% of children developed a motor function that was not observed in the natural history of SMA Type 1. 49% of children (16 children) could sit for ≥30 seconds.

The safety profile was similar to the previously reported profile.

Novartis presented long-term data of Zolgensma in 5+ years infants with SMA

Novartis presented the new data of Zolgensma (onasemnogene abeparvovec), demonstrating real-world benefit after five years of treatment.

The data shows that infants with SMA treated pre-symptomatically achieved age-related milestones, including sitting, walking, requiring no ventilatory or feeding tube support. The results were presented at the 2021 Muscular Dystrophy Association (MDA) Virtual Clinical and Scientific Conference.

In Phase 3 SPR1NT trial, infants with SMA were treated pre-symptomatically and achieved motor milestones, including sitting, standing, and walking.

Infants with two copies of SMN2 develop SMA Type 1, and infants with three copies of SMN2 suffer from SMA Type 2.

Across the two-copy and three-copy cohorts, 100% of infants were free of ventilatory and feeding support.

Results in two-copy cohort:

79% of infants with SMA were able to sit without support for 30 seconds (primary endpoint). Five infants were able to stand, three of them met the WHO window of normal development. Four infants were able to walk, three of them were able to meet the WHO window of normal development. 100% of infants achieved CHOP INTEND scores of ≥50, and 93% of infants achieved CHOP INTEND scores of ≥58.

Results in three-copy cohort:

53% of infants could stand for 30 seconds (primary endpoint), 40% of infants walked independently.

Novartis has reported no significant adverse events in the long term.


Roche presented 2-year data of Evrysdi, which shows improvement in motor function in infants with SMA Type 2 or Type 3

Roche has presented the 2-year long-term study of Evrysdi (risdiplam). The company has presented the results of infants with SMA of age 2-25 years. The study suggests that the motor gains achieved at the 12th month were continued for 24 months across primary and secondary endpoints. The data was presented at the 2021 Muscular Dystrophy Association (MDA) Virtual Clinical & Scientific Conference.

In the SUNFISH Part 2 study, the drug is compared with placebo.

  • Motor functions measured using Motor Function Measure (MGM-32) - Infants with SMA treated with Evrysdi improved motor function at month 12 and 24

  • Motor functions measured by Revised Upper Limb Module (RULM) and the Hammersmith Functional Motor Scale-Expanded (HFMSE) - Motor function was increased between months 12 and 24

  • Motor functions were stabilized after the treatment with Evrysdi, measured by MFM-32, RULM, and HFMSE

  • Caregiver-reported SMAIS upper limb module and the infants-reported SMAIS score increased from baseline between 12th month and 24th month

The common adverse events reported were pneumonia, influenza, respiratory tract infections, nasopharyngitis, pyrexia, headache, diarrhea, vomiting, and cough.



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