NCT02122952

Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1

Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101

• Status: Completed
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 15 (actual)
• Sponsor: Novartis Gene Therapies · Industry
• Sex: All
• Age: 6 Months
• Healthy volunteers: Not accepted

Summary

The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of AVXS-101 as a treatment of spinal muscular atrophy Type 1 (SMN1).

Detailed description

The study will evaluate safety and efficacy of gene therapy in spinal muscular atrophy Type 1 (SMA1) patients. SMA is caused by low levels of the survival motor neuron (SMN) protein, and affects all muscles in the body. There is no effective treatment for SMA and current drug therapy has been unsuccessful in stabilizing or reversing this disease. Only supportive care is currently possible. Open-label, dose-escalation clinical trial of AVXS-101 injected intravenously through a peripheral limb vein. Short-term safety will be evaluated over a two year period. Patients will be tested at baseline and return for follow up visits on days 7, 14, 21, 30, followed by once every month through 12 months post dose, and then every three months through two (2) years post infusion. Unscheduled visits may occur if the PI determines that they are necessary. The primary analysis for efficacy will be assessed when all patients reach 13.6 months of age (a database lock will be performed at the time point at which all patients reach 13.6 months of age). A follow-up safety analysis will be completed at the time point at which the last patient reaches 24 months post-dose. Upon completion of the 2-year study period, patients will be monitored annually as per standard of care for up to 15 years.

Conditions

• Spinal Muscular Atrophy 1

Interventions

Type	Name	Description
BIOLOGICAL	AVXS-101	Self-complementary AAV9 carrying the SMN gene under the control of a hybrid CMV enhancer/chicken-β-actin promoter

Timeline

• Start date: 2014-05-05
• Primary completion: 2017-12-15
• Completion: 2017-12-15
• First posted: 2014-04-25
• Last updated: 2022-09-15
• Results posted: 2019-05-10

Locations

1 site across 1 country: United States