The exploratory endpoint of the "ability to thrive" in symptomatic patients, inclusive of swallowing, feeding and age-appropriate weight maintenance, was also evaluated.(5) Twenty-three patients were in the ability to thrive population, of which seven (30 percent) met the criteria of ability to thrive at 18 months of age,(5) compared with none reported in the PNCR study.(6) Improvements in each component of the ability to thrive composite endpoint were observed. Age-appropriate weight maintenance was experienced by almost two-thirds of patients (65 percent) (greater than the third percentile for age and sex as defined by WHO guidelines) at 18 months.(5) Of the nine patients who required feeding support at baseline, four were free of feeding support at 18 months of age, and of the 23 patients in the ability to thrive population, 20 (87 percent) were fed exclusively by mouth and remained free from support at the end of the study.(5) Nine patients (39 percent) could tolerate thin liquids.(5)
As previously reported, one patient experienced a serious AE of hypoxic-ischemic brain damage and respiratory distress that resulted in death. Novartis and the investigator concluded the events and death to be unrelated to treatment with Zolgensma based on autopsy findings. Thirty-two of 33 patients were reported to have had at least one AE, of whom six experienced 13 serious adverse events concluded by the investigator to be related to Zolgensma.(5) Reported adverse reactions in patients receiving Zolgensma were consistent with the previously described safety profile, and no new safety signals were identified.
Novartis Gene Therapies is grateful to the patients and families who take part in clinical trials, and reaffirms its commitment to using science-based innovation to improve outcomes for patients with SMA and address the unmet medical needs of SMA.
About Zolgensma(R) (onasemnogene abeparvovec)
Zolgensma(R) (onasemnogene abeparvovec) is the only gene therapy for spinal muscular atrophy (SMA) and the only SMA treatment designed to directly address the genetic root cause of the disease by replacing the function of the missing or non-working SMN gene to halt disease progression through sustained SMN protein expression with a single, one-time IV infusion. Zolgensma represents the first approved therapeutic in Novartis Gene Therapies' proprietary platform to treat rare, monogenic diseases using gene therapy. Zolgensma was approved in the U.S. in May 2019 and subsequently has been approved in 40 countries. To date, more than 1,200 patients have been treated with Zolgensma globally across clinical trials, managed access programs, and in the commercial setting.(1)
Novartis Gene Therapies has an exclusive, worldwide license with Nationwide Children's Hospital to both the intravenous and intrathecal delivery of AAV9 gene therapy for the treatment of all types of SMA; has an exclusive, worldwide license from REGENXBIO for any recombinant AAV vector in its intellectual property portfolio for the in vivo gene therapy treatment of SMA in humans; an exclusive, worldwide licensing agreement with Généthon for in vivo delivery of AAV9 vector into the central nervous system for the treatment of SMA; and a non-exclusive, worldwide license agreement with AskBio for the use of its self- complementary DNA technology for the treatment of SMA.
About Spinal Muscular Atrophy
SMA is the leading genetic cause of infant death.(7,8) If left untreated, SMA Type 1 leads to death or the need for permanent ventilation by the age of two years in more than 90% of cases.(2,3) SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.(3) (,) (7) (,) (9) It is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.(9) This is especially critical in SMA Type 1, where motor neuron degeneration starts before birth and escalates quickly. Loss of motor neurons cannot be reversed, so patients with symptoms at the time of treatment will likely require some supportive respiratory, nutritional and/or musculoskeletal care to maximize functional abilities.(1) (0) If left untreated, more than 30% of patients with SMA Type 2 will die by age 25.(1) (0)
About Novartis Gene Therapies
Novartis Gene Therapies is reimagining medicine to transform the lives of people living with rare genetic diseases. Utilizing cutting-edge technology, we are working to turn promising gene therapies into proven treatments, beginning with our transformative gene therapy for spinal muscular atrophy (SMA). Our robust AAV-based pipeline is advancing treatments for Rett syndrome and Friedreich's ataxia. We are powered by the world's largest, commercially-proven gene therapy manufacturing footprint, enabling us to bring gene therapy to patients around the world at quality and scale.
This press release contains forward-looking statements within the meaning of the United States Private Securities Litigation Reform Act of 1995. Forward-looking statements can generally be identified by words such as "potential," "can," "will," "plan," "may," "could," "would," "expect," "anticipate," "seek," "look forward," "believe," "committed," "investigational," "pipeline," "launch," or similar terms, or by express or implied discussions regarding potential marketing approvals, new indications or labeling for the investigational or approved products described in this press release, or regarding potential future revenues from such products. You should not place undue reliance on these statements. Such forward-looking statements are based on our current beliefs and expectations regarding future events, and are subject to significant known and unknown risks and uncertainties. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those set forth in the forward-looking statements. There can be no guarantee that the investigational or approved products described in this press release will be submitted or approved for sale or for any additional indications or labeling in any market, or at any particular time. Nor can there be any guarantee that such products will be commercially successful in the future. In particular, our expectations regarding such products could be affected by, among other things, the uncertainties inherent in research and development, including clinical trial results and additional analysis of existing clinical data; regulatory actions or delays or government regulation generally; global trends toward health care cost containment, including government, payor and general public pricing and reimbursement pressures and requirements for increased pricing transparency; our ability to obtain or maintain proprietary intellectual property protection; the particular prescribing preferences of physicians and patients; general political, economic and business conditions, including the effects of and efforts to mitigate pandemic diseases such as COVID-19; safety, quality, data integrity or manufacturing issues; potential or actual data security and data privacy breaches, or disruptions of our information technology systems, and other risks and factors referred to in Novartis AG's current Form 20-F on file with the US Securities and Exchange Commission. Novartis is providing the information in this press release as of this date and does not undertake any obligation to update any forward-looking statements contained in this press release as a result of new information, future events or otherwise.
Novartis is reimagining medicine to improve and extend people's lives. As a leading global medicines company, we use innovative science and digital technologies to create transformative treatments in areas of great medical need. In our quest to find new medicines, we consistently rank among the world's top companies investing in research and development. Novartis products reach nearly 800 million people globally and we are finding innovative ways to expand access to our latest treatments. About 110,000 people of more than 140 nationalities work at Novartis around the world. Find out more at https://www.novartis.com.
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1. Novartis. 2021. Q1 2021 Results Investor presentation [PowerPoint
Presentation]. Available at:
Accessed May 2021
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3. Finkel RS, McDermott MP, Kaufmann P. et al. Observational study of spinal
muscular atrophy type I and implications for clinical trials. Neurology.
4. Strauss K. et al. Onasemnogene Abeparvovec for Presymptomatic Infants
with Spinal Muscular Atrophy and 2 Copies of SMN2: A Phase III Study.
Abstract presented at the 7th Congress of the European Academy of
Neurology. 19--22 June 2021.
5. Mercuri E. et al. Gene replacement therapy for symptomatic spinal
muscular atrophy type 1: final results of the Phase III STR1VE-EU study.
Abstract presented at the 7th Congress of the European Academy of
Neurology. 19--22 June 2021.
6. Pediatric Neuromuscular Clinical Research. PNCR Database: Weights (kg) by
Patient Ages (Months) for SMA Types I, II, and III All Visits.
7. National Organization for Rare Disorders (NORD). Spinal Muscular Atrophy.
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