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“Treating SMA as early as possible is critically important in order to rescue motor neurons before they are permanently lost.
2 Copy SMN2 Cohort
- Primary Outcome: proportion of patients who achieve functional independent sitting for at least 30 seconds, up to 18 months of age
- Secondary Outcomes: event-free survival at 14 months of age; and, ability to maintain weight at or above the third percentile without need for non-oral/mechanical feeding support up to 18 months of age
— An event is defined as either death or at least 16 hours per day of required ventilation support for breathing for 14 consecutive days in the absence of acute reversible illness or perioperatively
3 Copy SMN2 Cohort
- Primary Outcome: proportion of patients who achieve the ability to stand without support for at least three seconds, up to 24 months of age
- Secondary Outcome: ability to walk without assistance by 24 months of age, defined as the ability to take at least five steps independently displaying coordination and balance
4 Copy SMN2 Cohort
- Primary Outcome: proportion of patients who do not manifest symptoms consistent with SMA Type 3 based on a scaled score on Bayley V.3 Gross and Fine Motor Subtests within 1.5 standard deviations of chronological development reference standard, as assessed at 36 months of age
The trial will be conducted at 26 sites in 13 countries.
- U.S. sites include:
Center for Rare Neurological Diseases; Clinic for Special Children; Columbia University; David Geffen School of Medicineat UCLA, Department of Neurology; Duke University; Massachusetts General; Nationwide Children's Hospital; Nemours Children’s Hospital; Stanford University Medical Center; University of Texas Southwestern Medical Center, Children's Medical Center Ambulatory Care Pavilionin Dallas; University of Utah, Utah Program For Inherited Neuromuscular Disorders; University of Wisconsin, Madison; and, Washington University School of Medicine.
- Sites outside of the U.S. include:
Agostino Gemelli; Area Genetica Clínica y Molecular; Belgium(Liege); Canada Children’s Hospital of Eastern Ontario; Dr. Von Haunersches Kinderspital; Fondazione Policlinico Universitario; Great Ormond Street Hospital for Children; Hospital Valle Hebron, Barcelona; Israel, Schneider Children's Medical Centerof Israel, Institute of Child Neurology; National Taiwan University Hospital; Pusan National University Children's Hospital; Sydney Children’s Hospital; and, UMC Utrecht, Wilhelmina Kinderziekenhuis.
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SMA is a severe neuromuscular disease characterized by the loss of motor neurons leading to progressive muscle weakness and paralysis. SMA is caused by a genetic defect in the SMN1 gene that codes SMN, a protein necessary for survival of motor neurons. The incidence of SMA is approximately one in 10,000 live births and is the leading genetic cause of infant mortality.
The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients. SMA Type 2 typically presents between six and 18 months of age, and those affected will never walk without support and most will never stand without support. SMA Type 2 results in mortality in more than 30 percent of patients by the age of 25. SMA Type 3 typically presents in early childhood to early adulthood, and those affected may lose the ability to walk over time. The incidence per live births among subtypes is approximately 60, 27 and 13 percent for SMA Type 1, Type 2 and Type 3, respectively.
AveXis’ initial product candidate, AVXS-101, is its proprietary gene therapy currently in development for the one-time treatment of SMA Types 1, 2 and 3, and is designed to address the monogenic root cause of SMA and prevent further muscle degeneration by addressing the defective and/or loss of the primary SMN gene. AVXS-101 also targets motor neurons, providing rapid onset of effect and crossing the blood brain barrier to allow effective targeting of both central and systemic features.
For additional information, please visit www.avexis.com.
This press release contains "forward-looking statements," within the meaning of the Private Securities Litigation Reform Act of 1995, regarding, among other things, AveXis’ continued enrollment of patients in the