Phase 3 study of long-term outcomes of Ataluren in people with nonsense mutation Duchenne

Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy (041)

Questions and Answers

What stage is this research?

Recruitment is underway around the world.

What is the goal or purpose of this study?

The goal is to study the long-term safety and efficacy effects of ataluren in patients with Duchenne muscular dystrophy caused by a nonsense mutation (nmDMD).

What is ataluren?

Ataluren is an oral protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is a premature stop signal in the genetic code that interrupts the production of an essential protein.

What is the status of Translarna?

In August 2014 Translarna received marketing authorization in the European Union for the treatment of nonsense mutation Duchenne in ambulatory patients aged five years and older, representing the first-ever treatment approved for the underlying cause of the disease.

In 2018 the indication for Translarna was expanded to include patients as young as 2 years old.

PTC is expanding commercial access to Translarna across Europe, the Middle East, Latin America, and Asia Pacific.

In the US, PTC is conducting a study to assess dystrophin production in patients taking Translarna. The study was initiated towards the end of 2018 and is currently enrolling. You can find more information at PTC plans for a potential U.S. regulatory re-submission in 2020.

Who is funding this study?

This study is funded by PTC Therapeutics

Who is eligible to participate in this study?

To participate in this study you must be:

  • Male with Duchenne, age ≥5 years
  • Positive for a nonsense point mutation in the dystrophin gene
  • Using systemic corticosteroids (prednisone/prednisolone or deflazacort) for a minimum of 12 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen for a minimum of 3 months immediately prior to start of study treatment
  • Able to perform 6MWD ≥150 meters
  • Able to perform timed function tests within 30 seconds
  • Willing and able to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.

What do I have to do if I decide to participate in this study?

This study involves clinic visits every 12 weeks during the double-blind period and every 24 weeks during the open-label period.

How long will this study last, and will I have access to the drug/treatment once the study has ended?

The anticipated length of the study is 72-week of double-blind, placebo controlled and 72-week open-label period.

Where does this study take place?

This study will be conducted internationally with sites around the world.

How many visits to the study site are necessary?

Approximately 11 visits over the 144 week duration of the study.

Can any visits be done locally?

No, visits to the study site will be required to ensure consistency.

Is there any funding to help pay for travel?

Travel expenses for participants in the trial will be reimbursed.

Will I get paid for participating in this study?

No, there is no payment for study participants.

Why should I consider participating in this study?

While no personal benefit can ever be guaranteed by participation in a clinical trial, there are other benefits, including allowing you to play an active role in your own health care (or that of your child), gaining access to new research treatments before they are widely available and having access to medical specialists that may not be normally be available to you or your child, and helping others by contributing to the better understanding of Duchenne.

Where can I learn more about this study?

You can learn more about this study at (NCT#03179631).

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