The ASCEND Study
is evaluating a
potential treatment option for SMA.

If you or your child has been diagnosed with spinal muscular atrophy (SMA), the ASCEND Study may interest you. This clinical research study is investigating how safe and how well a higher dose of nusinersen may work in participants with SMA who were previously treated with risdiplam.

Who may qualify?

We are currently screening people ages five to 39 years old who have a confirmed diagnosis of SMA to take part in a clinical research study.

Eligible participants must:

  • Weigh more than 20 kg (44 lb.)
  • Be able to perform the age-appropriate functional assessments in the study
  • Be unable to walk 4.57 m (15 ft.) independently without support
  • Be between the ages of five and 39 years old and:
    • Have had prior treatment with risdiplam for at least six months but no more than 12 months before enrollment and willing to stop risdiplam treatment
    • Have not been treated with nusinersen

OR

  • Be between the ages of 18 to 39 years old and:
    • Have been treated with nusinersen but have stopped treatment for at least 16 months
    • Have been treated with risdiplam for at least 12 months but no more than 18 months and be willing to stop treatment with risdiplam

There are additional eligibility requirements that the study doctor can explain to you.

Participation is voluntary, and you will be able to leave the study at any time.

About the ASCEND Study.

The purpose of the ASCEND Study is to evaluate the safety and efficacy of an investigational dose of nusinersen for participants with SMA who were previously treated with risdiplam. This higher dose of nusinersen is not currently approved for SMA and is considered an investigational medication.

About the study drug.

Nusinersen is an antisense oligonucleotide, a man-made molecule with highly modified structures similar to DNA and RNA, that is designed to bind to pieces of RNA and makes them work in a specific way. For people with SMA, nusinersen may help increase the production of the survival motor neuron (SMN) protein, the protein that is needed by motor neurons to function but people with SMA cannot make enough of.

While taking nusinersen, it is possible that side effects may occur. Some of these are known to us already and will be discussed with you before you agree to take part in the trial. We encourage all participants to report any changes in their health to the study team.

Study participation.

The total length of participation is about two and a half years and consists of a screening period, a treatment period, and an end-of-study visit.

Screening period.

During this period, the study team will perform tests and procedures to make sure the study is a good match for you or your child. You or your child will also undergo genetic testing, as well as talk about your medical history with the study team. This period will last approximately three weeks.

Treatment period.

During this period, you or your child will receive the study drug given through a lumbar puncture, which will be performed by a trained clinician. During this procedure, the doctor will put a thin needle into the fluid-filled space below the end of your or your child’s spinal cord through the lower back. The doctor will take a sample of the cerebrospinal fluid and inject the study drug. You or your child must stay very still during the entire procedure. The first two doses will be received approximately two weeks apart. After that, the doses will be every four months for two years. The first two visits, Day 1 and Day 15, will include a 24-hour stay at the study site. During all of the visits, the study team will check your vital signs, conduct a physical and neurological exam, and ask you questions about your ventilator use, if applicable.

End-of-study visit.

Four months after the final treatment visit, you will have one more visit to check your health. During this visit, the study team will conduct a final check of your vital signs; collect urine and blood samples; perform an ECG, a physical, and a neurological exam; and ask questions about your quality of life and ventilator use, if applicable.

How your health will be monitored.

Because safety is so important, you will have up to 11 visits total at the study site. The first two visits in the treatment period are two weeks apart. After that, visits will take place about every four months, and the study team will conduct several assessments to monitor your condition.

Study assessments will vary from visit to visit, but may include:

  • Lumbar puncture
  • Vital sign measurements
  • Physical exam
  • Neurological exam
  • Electrocardiogram (ECG)
  • Urine sample collection
  • Blood sample collection
  • Compound muscle action potential (CMAP) test
  • Motor function test
  • Health questionnaires
  • Fine movement tests and well-being questions on the KonectomTM app
  • Pulmonary function tests
  • Ventilator use diary

Some of these assessments may be uncomfortable or may carry certain risks, but the study team will explain each assessment to you in detail if you decide to take part.

Find a site.

To learn more, and to see if you may qualify, contact the participating site nearest you.

About SMA.*

SMA is a rare genetic disease that affects the nerves in the spinal cord, causing severe muscle weakness, loss of movement, and difficulty breathing. It is an autosomal-recessive genetic disorder, which means that generally both parents must carry a mutated survival motor neuron 1 (SMN1) gene for their baby to inherit SMA. Because each parent typically has only one mutated SMN1 gene, the parents do not have SMA. They are considered “carriers.” SMA affects approximately one out of every 11,000 babies in the US.

While there are now treatment options, there is still no cure for SMA, and unmet medical needs remain. Researchers conducting the ASCEND Study are examining a medication known as nusinersen to determine its safety and effectiveness at a higher dose in individuals previously treated with risdiplam.

*curesma.org/about-sma/

Understanding the genes behind SMA.

Genetic testing.

In the general population, a test for SMA can detect about 95% of carriers.

The American College of Obstetricians and Gynecologists (ACOG) recommends that all women who are thinking about becoming pregnant, or who are already pregnant, should undergo a carrier screening for SMA and other genetic conditions. If the woman is a carrier, her partner can then be tested.

In addition, individuals with a family history of SMA are often encouraged to have carrier screening. Deciding whether to undergo genetic testing is highly personal, and we strongly recommend discussing it with a physician or genetic counselor.

What you should know about
clinical research studies.

What is a clinical research study?
Can I leave the study if I change my mind?

Participation in any clinical research study is completely voluntary, and participants may choose to leave the study at any time for any reason. If you would like to leave the study, you should discuss this with your study doctor, who will give you information about how to do this safely.

What should I expect?

In order to enroll in the study, you will need to provide your informed consent to participate by signing the informed consent form (ICF), which details the study procedures and your responsibilities as a participant.

You will then need to attend the screening visit(s) for initial tests and assessments to see if you are eligible to participate. After all necessary tests and assessments have been completed, and if you are eligible to participate, you may choose to enter the study.

How long will study participation last?

The maximum study duration is approximately two and a half years.

Are there any potential risks?

It’s important to remember that, as with any study drug, you can never be sure of the outcome. Your health may improve, it may stay the same, or it may get worse.

Details regarding risks and potential side effects are provided to you in the informed consent form. You can always talk to your study doctor about any concerns you have at any point during the study.

Confidentiality.

No personal identifying information of individuals referred to the study or individuals participating in the study will be shared outside the study team and regulatory agencies.

A clinical research study is a scientific investigation designed to answer important questions about a study drug, such as:

  • Is it safe?
  • Does it work?
  • Which dose works best?
  • What are the side effects?

All study drugs must be tested in clinical research studies before they are approved and available to be prescribed by doctors.

People take part in clinical studies for a number of reasons. For example, they may:

  • Have run out of approved or alternative treatment options
  • Want to help others like them or add to our knowledge of their disease or condition
  • Be interested in the close monitoring they receive when in a clinical research study

Even before a study starts, safety is a high priority. Every study must be reviewed and monitored by either an institutional review board (IRB) or an independent ethics committee (IEC). These groups, which are made up of both scientists and nonscientists, review the study’s plan to make sure that:

  • The rights of participants will be protected
  • There are no unnecessary risks involved
  • The study answers important unanswered medical questions