Curing the Incurable – This Gene Therapy Delivers

The first approved gene therapy for a neuromuscular disease is now  available for children with spinal muscular atrophy (SMA) thanks to AveXis, a Novartis company.

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.

Newborn screening requirements for SMA in Arizona is the next important step.

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.  Arizona is not one of them…yet.

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.

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.”

Read more: https://www.mda.org/press-releases/mda-celebrates-fda-approval-zolgensma-treatment-spinal-muscular-atrophy-pediatric

Screening and Early Detection

Time is Neurons is an education program for commercial payers and state Medicaid programs to support rapid treatment

Lost motor neurons are irreplaceable, which means early diagnosis and treatment are critical.[6],[7] Through its Time is Neurons education effort, AveXis has been working closely with payers to highlight the importance of early treatment. AveXis is delivering on the urgent need to treat pediatric patients with SMA with the goal of reduced prior authorization turnaround time, allowing them ideally to be treated within 2 weeks of diagnosis. 

According to a March 2018 report submitted to the Advisory Committee on Heritable Disorders in Newborns and Children — a division of the U.S. Department of Health and Human Services — newborn screening of the roughly four million babies born in the U.S. each year could avert death or the need for mechanical ventilation in 48 infants by their first birthday.

“Most newborn screening programs surveyed stated that it would take between one and three years to implement screening for SMA,” according to the 105-page report. “Screening for SMA requires few additional resources when multiplexed with SCID [severe combined immunodeficiency], which is included on most state newborn screening panels.”

In 2017, the State of Arizona began newborn screening for Severe Combined Immune Deficiency (SCID)

Innovating so families have access to a cure

AveXis, a Novartis company, has developed an innovative access programs for Zolgensma® (onasemnogene abeparvovec-xioi) 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. AveXis is working closely with payers to offer pay-over-time options up to 5 years and outcomes-based agreements up to 5 years, as well as providing a patient program to support affordability and access.

“Zolgensma is a historic advance for the treatment of SMA and a landmark one-time gene therapy. Our goal is to ensure broad patient access to this transformational medicine and to share value with the healthcare system,” said Vas Narasimhan, CEO of Novartis. “We have used value based pricing frameworks to price Zolgensma at around 50% less than multiple established benchmarks including the 10-year current cost of chronic SMA therapy.  In addition, the price of Zolgensma is expected to be within the range of traditional cost-effectiveness thresholds used by ICER when updated for its full labeled indications. We believe by taking this responsible approach, we will help patients benefit from this transformative medical innovation and generate significant cost savings for the system over time.”

“Innovative science like Zolgensma required us to be equally innovative in offering customized access solutions to meet the many needs of payers and patients,” said Dave Lennon, president of AveXis. “We are partnering to accelerate coverage decisions with both government and commercial payers. We are offering a pay-over-time model for this one-time treatment to accommodate the current structure of the US healthcare system and we have also established outcomes-based agreements with payers because we believe in the long-term value of Zolgensma and are willing to stand behind the therapy.”

The current 10-year cost of chronic therapy, which is given over the patient’s lifetime, can often exceed USD 4 million in just the first 10 years of a young child’s life.[1] In addition, that therapy stops working if treatment is stopped.[2] Zolgensma is expected to save costs in the healthcare system compared to chronic treatment for the treatment and care of SMA.[3] The wholesale acquisition cost of Zolgensma of USD 2.125 million is:

  • 50% of the 10-year cost of current chronic SMA treatment (estimated at USD 4.1 million)[1]
  • 50% below 10-year treatment costs for genetic pediatric ultra-rare diseases (estimated at USD 4.4 million to USD 5.7 million)[4]*
  • 50% below the ICER ultra-rare disease cost-effectiveness threshold; Zolgensma pricing places it at approximately USD 250,000 per quality-adjusted life-year (QALY)[5]

“We are at the forefront of an exciting time in healthcare when we’ll be able to see major advancements in medical care with potentially curative gene therapies. While there are many questions that we as a healthcare system need to consider, what does not change is our work to ensure that these life-saving medications are affordable and available to the patients that need them,” said Steve Miller, M.D., chief clinical officer, Cigna Corporation. “We look forward to continuing the work we have started with AveXis to find unique solutions like installment payments and outcomes-based agreements for these life changing gene therapies.”

AveXis has partnered with Accredo® to offer a pay-over-time option of up to 5 years to help ease possible short-term budget constraints, especially for states, small payers and self-insured employers. In addition, CuraScript SD® has been selected as the sole specialty distributor given its rare disease experience, including gene and cell therapies.

Reflecting the pioneering nature of these programs, more than 15 payers are in advanced discussions of terms with AveXis, with some having already agreed, in principle, to terms.

“We are thrilled to be able to offer our members access to this groundbreaking gene therapy, particularly in light of AveXis agreeing to place a portion of the cost at risk, contingent upon demonstrating continued performance over a five-year period,” said Michael Sherman, M.D., M.B.A., chief medical officer of Harvard Pilgrim Health Care. “The clinical benefits of gene therapy for infants with life-threatening genetic diseases, such as SMA, are undeniable, and our innovative, outcomes-based agreement helps ensure that we balance access and affordability for our members. While we anticipate that Harvard Pilgrim would see a small number of newly-diagnosed patients with the very rare SMA Type 1 each year, we believe it is our responsibility to provide access to this lifesaving treatment.”

OneGene ProgramTM to support patients and families along their treatment journey with Zolgensma 
AveXis patient support program, called OneGene ProgramTM, is a comprehensive, individualized support program that 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 (1-855-441-436

Read the full Press  Release from  Novartis: https://www.novartis.com/news/media-releases/avexis-announces-innovative-zolgensma-gene-therapy-access-programs-us-payers-and-families

Posted in AZBio News.