The SPR1NT research study is for babies with spinal muscular atrophy (SMA) who do not yet have symptoms. If you have a baby under 6 weeks of age who has been diagnosed with SMA, the SPR1NT research study may be an option for you. If you are pregnant and your doctor believes your baby might have SMA, you may also want to think about this option.

To enroll in the research study, babies must*:

Be under
6 weeks
of age
Have been
diagnosed
with SMA
Have 2 to 4
copies of the
SMN2 gene

Find a Research Study Location

If you are interested in learning more about SMA research, the SPR1NT research study, and possibly enrolling your child in the study, enter your location in the field below to find the study site nearest to you. If travel costs are a concern, the study team can discuss options for you and your family.

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View all SPR1NT research study locations

SPR1NT STUDY DETAILS

The goal of the SPR1NT research study is to test the safety and effectiveness of an experimental gene replacement therapy called AVXS-101. AVXS-101 aims to replace the gene that is missing or not working properly in children with SMA. The SPR1NT research study is evaluating AVXS-101 as a potential early treatment in babies before they develop symptoms of SMA.

Here is some helpful information about the SPR1NT research study:

Its goal is to find out if this experimental gene replacement therapy is safe and effective in babies with SMA
It aims to enroll babies who are under 6 weeks of age who have been been diagnosed with SMA and who have 2 to 4 copies of the SMN2 gene

Key facts about the SPR1NT research study

The SPR1NT research study is designed to see if early use of experimental gene replacement therapy in babies with SMA (before symptoms occur) is safe and can stop the progression of the disease.

If you want more information, a study doctor will discuss the SMA research in more detail to address any questions you may have about the SPR1NT research study. You will receive information on study procedures, exams, and medication at no cost.

Enrollment criteria*

Babies must:

Be under 6 weeks of age
Have been diagnosed with SMA
Have 2 to 4 copies of the SMN2 gene

*Doctors will look at other factors at the start of the research study and will conduct exams to assess your baby. The exams and results will be discussed with you.

Study specifics

If you choose to participate in the SPR1NT research study, your baby will receive only one intravenous (IV) infusion of AVXS-101.

SPR1NT follow-up visits

If you choose to participate, you will return to the study site with your baby once a week for 4 weeks for follow-up visits. After that, you will return to the study site for follow-up visits approximately every 3 months until your baby is between 18 and 36 months of age. If travel to follow-up visits is a concern, the study team can discuss options for you and your family.

Making an informed choice for your child

Having your child take part in a research study is a big decision. Your baby is precious. That’s why the SPR1NT study team works to follow the highest ethical and scientific standards. The SPR1NT study team is happy to discuss your concerns. Please be sure to ask them any questions you have about the research study or the experimental therapy.

ABOUT RESEARCH STUDIES

AveXis is a gene therapy company that is working to develop new treatments for patients with rare and life-threatening genetic diseases, like SMA. Research studies—also known as clinical trials—must be conducted to test experimental treatments before they can be used by the public.

The results of the SPR1NT research study, and other SMA clinical trials, will provide data about the safety and the effectiveness of gene replacement therapy in SMA. Participation in a research study is voluntary, and individuals may withdraw from the study at any time and for any reason.

Protecting study participants

Study doctors are required to follow rules while running research studies, including SMA research. These rules are meant to protect the safety of the people who volunteer to be in them.

All researchers follow a detailed plan—called a protocol—which explains the steps of the study. This plan has been reviewed and approved by a group of people knowledgeable about research, called an institutional review board (IRB) or ethics committee (EC). The IRB and EC are concerned with protecting the welfare, rights, and privacy of study participants.

Before you volunteer to join a research study, the researchers must fully explain the study and answer any and all questions that come up.

By taking part in a research study, you and your baby will play an important role in the future of SMA and potential new treatments.

For more information about AveXis, visit AveXis.com. For more information about research studies, visit ClinicalTrials.gov.

SPR1NT FAQS

What is gene replacement therapy?

In SMA, the survival motor neuron 1 gene (SMN1), which gives the body instructions for producing a protein called survival motor neuron (SMN), is missing or not working properly. Gene replacement therapy provides the body with a working copy of the gene. AVXS-101 is an experimental gene replacement therapy for SMA. Its aim is to replace the gene that is missing or not working properly.

Put simply, a working SMN gene will be given to your baby through a needle inserted into a vein (IV infusion) one time. The SMN replacement gene is placed in a kind of package (known as a vector) that allows it to go into cells. In this SPR1NT research study, the vector is a modified adeno-associated virus called AAV9. The AAV9 virus used in the study does not cause known disease in humans.

What are the risks and benefits related to the SPR1NT research study?

This study is being done to see if an experimental therapy is safe and effective for SMA. There is a chance that your baby could have side effects while in this research study. At this time, not all effects (good or bad) are known. The research study staff will give you a list of known risks, and your baby will be closely monitored during this research study. The SPR1NT study team will discuss these risks with you.

Will my child receive placebo?

No. Your child will receive only the gene replacement therapy being studied in the SPR1NT research study. There is no placebo (a comparison version without the actual drug in it) in this research study.

Who sponsors the SPR1NT research study?

AveXis is the sponsor of the research study. AveXis is running other research studies in SMA in addition to the SPR1NT research study. To learn more about AveXis or SMA research, please visit AveXis.com.

What happens to the results of the SPR1NT research study?

Results from this and other studies will be submitted to the appropriate country’s regulatory authorities to help determine whether this gene replacement therapy is safe and effective enough to be approved as a treatment option for other babies with SMA.

Why is the SPR1NT research study important?

Sponsors of gene replacement therapy and other experimental treatments must conduct research studies before the treatments can be used by the public. The results of this research study will provide data about the safety and effectiveness of gene replacement therapy. By taking part in the SPR1NT research study, you and your baby will play an important role in the future of SMA treatments.

RESOURCES

Cure SMA

Cure SMA is dedicated to the treatment and cure of SMA. They fund research and provide families with support.

curesma.org

SMA Foundation

The mission of the SMA Foundation is to accelerate the development of a treatment for SMA.

smafoundation.org

TREAT-NMD Neuromuscular Network

TREAT-NMD is a network for the neuromuscular field that provides a system to ensure that the most promising new therapies reach patients as quickly as possible.

treat-nmd.eu

Muscular Dystrophy Association (MDA)

MDA is leading the fight to free individuals—and the families who love them—from the harm of muscular dystrophy, amyotrophic lateral sclerosis, and related muscle-debilitating diseases that take away physical strength, independence, and life. It works to find research breakthroughs across diseases, provides support for individuals from day one at MDA Care Centers, and empowers families with services and support in hometowns across America.

mda.org