US FDA Grants Expanded Approval of ELEVIDYS Gene Therapy for DMD Patients Ages 4 and Above

About Us

Our mission is to empower people living with neuromuscular diseases to live longer, more independent lives.

MDA Celebrates FDA Approval of Zolgensma for Treatment of Spinal Muscular Atrophy in Pediatric Patients

First approved gene therapy for a neuromuscular disease

NEW YORK, May 24, 2019 /PRNewswire/ -- The Muscular Dystrophy Association (MDA) today celebrated the decision by the U.S. Food and Drug Administration (FDA) to grant approval of Zolgensma (onasemnogene abeparvovac-xioi), the first gene therapy for a neuromuscular disease. Zolgensma is a one-time intravenous (into the vein) infusion for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene, including those who are pre-symptomatic at diagnosis. SMA is the leading genetic cause of infant death. Zolgensma is designed to target the genetic root cause of SMA by delivering the survival motor neuron gene (SMN), which is missing or mutated in SMA. Zolgensma will be made available in the United Statesand will be marketed by AveXis, a Novartis company.

DNA strand

Approval of the therapy marks another historic achievement for the SMA community. Now, in addition to Spinraza — the first SMA disease-modifying therapy, which was approved in December 2016 for SMA — patients will have access to another promising therapy.

For decades, MDA has funded research aimed at the discovery of genes causing neuromuscular disease and has supported work to develop therapies that address the root cause of disease. Zolgensma is only the second gene therapy approved by the FDA to treat any disease, placing the field of neuromuscular disease at the forefront of genetic medicine.

"Zolgensma is poised to be another life-altering therapy for the SMA community," says MDA President and CEO Lynn O'Connor Vos. "It represents a breakthrough toward the promise of safe and effective gene therapies, and it may catalyze the development of other gene therapies to treat a range of rare neuromuscular diseases."

Zolgensma may be the first of many gene therapies targeting the genetic root cause of disease, highlighting the importance of years of investment by MDA and others into gene identification and research unlocking the cause of disease. In addition, MDA has funded landmark research focused on developing and refining gene delivery tools and has supported the work to establish protocols for safe and effective gene therapy clinical trials. While this may be the first gene therapy for treating neuromuscular disease, the increasing pace of drug development holds immense promise for the future of the field. In the past decade alone, seven therapies for treating neuromuscular diseases have been approved by the FDA.

Clinical trials of Zolgensma deliver on the promise of gene therapy

Positive results of a pivotal phase 1 START trial showed that babies who received Zolgensma lived longer compared to the normal course of the disease, and they achieved and maintained motor milestones that infants with SMA type 1 normally would not be expected to achieve, like holding their heads erect and sitting, standing, or walking without support. Patients observed in a long-term follow-up trial to the phase 1 study continued to gain strength and achieve new milestones; two additional patients were able to stand and walk alone without assistance at the end of the follow-up period.

Interim data from the phase 3 STR1VE trial presented by AveXis at the 2019 MDA Clinical & Scientific Conference in April and the 2019 Academy of Neurology Annual Meeting in May validated the pilot trial results. In this study, infants treated with Zolgensma showed prolonged survival, increases in motor function, and achievement of motor milestones beyond what would be expected for infants with SMA type 1. AveXis is currently testing Zolgensma in clinical trials for patients with SMA type 2 as well as in pre-symptomatic SMA patients.

Zolgensma was also found to be well tolerated and safe in the more than 150 patients who have been treated to date. The most commonly observed adverse events were elevated liver enzymes and vomiting. Transient decreases in platelet counts (platelets are blood cells that play an important role in preventing bleeding) were observed at different time points after Zolgensma infusion. Zolgensma uses the adeno-associated viral vector 9 (AAV9) to deliver the missing SMNgene. Because AAV9 is a naturally occurring virus, some children may have antibodies against this virus, making them ineligible for treatment. However, out of the 177 patients who underwent pre-treatment screening, only 5% were unable to receive treatment because of high levels of antibodies against the viral vector that delivers the gene product.

About OneGene Program

OneGene Program, AveXis' patient support program, provides a dedicated, personalized support team focused on the needs of each family throughout the Zolgensma treatment journey. This includes answering questions about Zolgensma, verifying reimbursement assistance, and coordinating financial assistance programs for eligible patients. For more information, caregivers and healthcare professionals can call 1-855-441-GENE (1-855-441-4363).

Outside of the US, Zolgensma has PRIME (PRIority MEdicines) designation in Europe and is being reviewed under Accelerated Assessment Procedure, and also has accelerated Sakigake designation in Japan. In the interim, AveXis has arranged to make the product available for international markets, subject to local laws and regulations, as a part of its paid Managed Access Program via a collaboration with Durbin, a third-party provider. International inquiries regarding availability of Zolgensma outside of the US may be made by contacting Durbin at or+44-20-8869-6506.

About SMA

SMA is caused by a mutated or missing survival motor neuron 1 gene (SMN1) that prevents the body from making enough survival motor neuron protein (SMN), ultimately leading to the loss of motor neurons, muscle weakness, and paralysis seen in SMA. SMA is traditionally divided into sub-types (SMA types 1, 2, 3, and 4) based on disease onset and severity, which typically correlate to levels of SMN protein. The most severe form of SMA is type 1, which, without treatment, results in death or the need for permanent breathing support by 2 years old for most patients.

Early diagnosis is key to prolonging the lifespan of infants with SMA as the earlier the child is treated, the better the outcomes. Newborn screening (NBS) is a program in the United States that tests newborns for a specific set of life-threatening genetic disorders for which there are currently treatments available, and six states now routinely screen newborn babies for SMA.

About Zolgensma

Gene therapy uses a viral vector to deliver a missing or mutated gene to a patient — in this case, the SMN gene — and this new gene begins producing the missing protein. Zolgensma is a gene therapy that targets the root cause of SMA by delivering a fully functional SMN gene into target motor neuron cells. Zolgensma is designed to halt disease progression by producing sufficient and sustained levels of SMN protein required to improve motor neuron function in a manner that has rapid onset of effect. The therapy is a one-time intravenous infusion.

About the Muscular Dystrophy Association

MDA is committed to transforming the lives of people affected by muscular dystrophy, ALS, and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's MOVR is the first and only data hub that aggregates clinical, genetic, and patient-reported data for multiple neuromuscular diseases to improve health outcomes and accelerate drug development. MDA supports the largest network of multidisciplinary clinics providing best-in-class care at more than 150 of the nation's top medical institutions. Our Resource Center serves the community with one-on-one specialized support, and we offer educational conferences, events, and materials for families and healthcare providers. Each year thousands of children and young adults learn vital life skills and gain independence at summer camp and through recreational programs, at no cost to families. For more information visit

SOURCE: Muscular Dystrophy Association