Active not recruitingPHASE3INTERVENTIONAL

A Study of BIIB067 (Tofersen) Initiated in Clinically Presymptomatic Adults With a Confirmed Superoxide Dismutase 1 Mutation

This study is testing a drug called tofersen in adults who have a specific genetic change (called a SOD1 mutation) that can cause a condition similar to Motor Neurone Disease (MND or ALS). These individuals do not yet have any symptoms of the disease. The main goal is to find out if tofersen can effectively stop or slow down the development of the illness. Researchers will also check if the drug is safe and if it affects certain markers in the body that doctors can measure. Essentially, they want to see if giving the drug early, before symptoms start, can make a difference.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Biogen

Enrolment target

158

Start

17 May 2021

Estimated completion

30 Apr 2028

Amyotrophic Lateral Sclerosis Associated With a SOD1 Gene Mutation

What is this study about?

This research study is about a condition called Amyotrophic Lateral Sclerosis (ALS), which is also known as Motor Neurone Disease (MND) in the UK. ALS is a serious illness that affects nerve cells in the brain and spinal cord, leading to muscle weakness and problems with movement. In some cases, ALS is caused by a specific change in a gene called SOD1.

This study is looking at a new drug, tofersen, in people who carry this SOD1 gene change but haven't developed any symptoms of ALS yet. Think of it like this: these individuals have a higher chance of getting ALS in the future because of their genes, but they are currently healthy. The researchers want to see if giving tofersen at this early stage can prevent or delay the start of the illness.

The main aim is to understand if tofersen is effective in keeping these individuals well. They will also be closely watching to ensure the drug is safe and well-tolerated. Additionally, they will measure certain substances in the body to see if the drug has an effect on these markers before any physical symptoms appear. This could help doctors understand how the drug works and when it might be most helpful.

Key takeaways

Tests a new drug (tofersen) for a genetic form of ALS/MND.
Aims to prevent or delay the disease in people without symptoms.
Focused on adults with a specific SOD1 gene change.
Will assess both drug effectiveness and safety.
Involves visits, medical checks, and either the drug or a placebo.

Who may be eligible?

To join this study, adults must have a specific change in their SOD1 gene that doctors have identified as being fast-acting or approved for the study. You also need to have a certain level of a substance called neurofilament (NF) in your blood that is below a set limit, indicating that you are not yet showing physical signs of ALS. Most importantly, you must not have any symptoms of ALS.

There are also some reasons why you might not be able to take part. For example, if you have or have had HIV or certain types of hepatitis (B or C). If you've ever had a severe allergic reaction to tofersen or any of its ingredients, you wouldn't be able to join. Also, if you have other ongoing nerve or muscle problems that are getting worse, or any conditions that might increase your risk of serious bleeding during the study, you would not be eligible.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you an adult aged 18 or older?
Do you have a confirmed SOD1 gene change linked to ALS?
Do you currently have *no* symptoms of ALS/MND?
Do you have lower levels of a marker called neurofilament (NF) in your blood?
Have you *not* had severe allergic reactions to medicines like tofersen?
Do you *not* have certain serious infections (like HIV or specific types of hepatitis) or other serious progressive nerve conditions?

Answer every question to see your result.

What does participation involve?

If you decide to join this study, you will be given the study drug, tofersen, or a placebo (a dummy drug with no active ingredients). This will involve a series of visits to the study clinic for assessments and to receive your treatment. These appointments will include physical examinations, blood tests, and perhaps other checks to monitor your health and how the drug is affecting you. The total duration of your participation in the study will depend on the study design, and you will have regular follow-up visits to ensure your well-being. More detailed information about the exact schedule and duration will be provided by the study team.

Potential risks and benefits

Participating in this study might offer the potential benefit of helping to prevent or delay the onset of ALS, even if you are not directly receiving the active drug, as all participants contribute to medical knowledge. However, there are potential risks, including side effects from the study drug, the placebo, or from the procedures involved like blood tests or other medical assessments. You will be closely monitored for any adverse reactions. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (32)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

HonorHealth Neurology
Verified postcode
Scottsdale, United States
University of California San Diego Medical Center
Verified postcode
La Jolla, United States
California Pacific Medical Center Research Institute
Verified postcode
San Francisco, United States
Holy Cross Hospital
Verified postcode
Fort Lauderdale, United States
University of Miami School of Medicine
Verified postcode
Miami, United States
The Emory Clinic
Verified postcode
Atlanta, United States
Northwestern Medicine
Verified postcode
Chicago, United States
Johns Hopkins Hospital
Verified postcode
Baltimore, United States
Massachusetts General Hospital, MA
Verified postcode
Charlestown, United States
Washington University School of Medicine
Verified postcode
St Louis, United States
Columbia University Medical center
Verified postcode
New York, United States
Austin Neuromuscular Center
Verified postcode
Austin, United States

Common questions

What is a SOD1 gene mutation?

It's a specific change in a gene that can increase the risk of developing a condition similar to Motor Neurone Disease (ALS/MND).

What does 'presymptomatic' mean?

It means you carry the gene change but do not yet have any physical signs or symptoms of the illness.

What is tofersen?

Tofersen is the study drug being tested to see if it can help prevent or delay the start of symptoms in people with the SOD1 gene change.

Will I definitely receive the active drug?

Some participants will receive tofersen, while others will receive a placebo, which is a dummy drug with no active ingredients. This helps researchers understand the drug's true effect.

How long will the study last?

The study team will give you a detailed timeline for your participation, including the number of visits and the total duration.