Frequently Asked Questions

Why is this study being conducted?
Pharmaceutical companies are required to conduct research studies to learn more about study treatments before they are approved and made available to the public. The results of this study will provide more information about the safety and effectiveness of the gene therapy. By taking part in this study, you and your child will make an important contribution to Spinal Muscular Atrophy (SMA) research.
Are there other treatments for SMA available to my child?
Currently there is one approved treatment available for SMA. Researchers are continuing to explore treatment options for SMA. You should discuss other potential treatments with your child’s doctor when considering this study.
How is this treatment different from other therapies?
Although there is one other approved treatment option available, this treatment is the only gene therapy for SMA currently in development. The goal of this therapy is to deliver a new SMN1 gene that can produce the Survival Motor Neuron (SMN) protein that is missing in children with SMA. By producing the SMN protein, the new gene may help improve a child’s SMA symptoms.

SMA is a severe neuromuscular disease caused by a genetic defect in the SMN1 gene—leading to the loss of motor neurons and resulting in progressive muscle weakness and atrophy. SMA is divided into sub-categories—SMA Types 1, 2, 3, and 4—based on age of disease onset, and SMN2 copy number, which generally correlate to survival motor neuron (SMN) protein levels.
How will I know if my child is eligible?
You can take a brief online pre-qualification questionnaire [HERE], which will determine if your child meets the basic requirements for the study. If your child meets these initial criteria, you may decide to have him or her evaluated by one of the participating study sites to confirm if your child is eligible to enter the study.
What if there is not a study site near me?
You can find a list of physicians participating in the study [HERE]. If there is not a study site located near you, you may be eligible for travel assistance. Please contact the study site closest to you for more information on travel assistance.
What will happen once my child is enrolled in the study?
If your baby is eligible for this study, he or she will receive the treatment through an intravenous infusion (needle inserted into a vein). After treatment, your child will stay overnight at the hospital up through 48 hours for observation and evaluation. After your child is released from the hospital, you will be asked to bring him/her to follow-up visits for the remainder of the study.

During study visits, doctors and study staff will also conduct various tests and assessments to evaluate your child’s health and progress. Some of these tests and assessments include, but are not limited to:
  • Review of your child’s medical history
  • Physical exam and vital signs (measurements of weight, length, blood pressure, heart rate, blood oxygen level, and temperature)
  • Lung exams
  • Heart assessments
  • Blood, urine, and saliva sample collections
  • Physical Therapy Assessments
How long will this study last?
Depending on how old your baby is when he or she begins the study, your baby’s total study participation will range from 13 months to 17 months.
Is my child guaranteed to receive gene therapy?
Yes. All babies enrolled in this study will receive one infusion of this treatment.
How much will it cost me to enroll my child in this study?
All study-related visits, tests, and treatments will be provided to participants at no cost. In addition, reimbursement for study-related travel may be provided.
Are there any risks to my child if they participate in this study?
As with any research study, your child’s SMA may not improve as a result of study participation; all of the possible effects of the treatment are not known at this time.

It is possible your child could experience a reaction to the gene replacement therapy, injection, or assessments. The study staff will provide you with a complete list of known risks related to this study.

Because research studies can affect the health and safety of participants, your child will be closely monitored during this study. Researchers for this study designed a protocol, which explains all of the study procedures in complete detail. An independent review board responsible for participant safety reviewed and approved this protocol and requires that it be followed exactly.
Who do I contact if I have further questions?
You may contact one of the study staff members at participating study sites for further information on this study. A list of study locations and contact information can be found [HERE].