Phase 2 study of dystrophin levels in people with nonsense mutation Duchenne currently taking ataluren

Ataluren – The Dystrophin Study (046) in participants currently taking ataluren

Questions and Answers

What stage is this research?

This trial is actively recruiting participants

What is the goal or purpose of this study?

The goal of this study is to assess the production of dystrophin in participants with nonsense mutation Duchenne muscular dystrophy who are being treated with ataluren

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.

Translarna (ataluren) has received marketing authorization in the European Union for the treatment of nonsense mutation Duchenne in ambulatory patients aged two years and older.

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
  • Positive for a nonsense point mutation in the dystrophin gene
  • Willingness to undergo a needle muscle biopsy
  • Currently being treated with ataluren 10, 10, 20 mg/kg for >=9 months, with no gap in treatment of greater than (>) 1 month, in an ongoing PTC-sponsored nmDMD clinical trial prior to study entry.
  • Willing and able to comply with scheduled visits, drug administration plan, study procedures, muscle function tests, laboratory tests, and study restrictions.

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

The study will evaluate the levels of dystrophin after ataluren therapy using muscle biopsies using two validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.

Participants will be required to travel to UCLA (Los Angeles, Ca.) for the biopsy visits

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

The participant will remain in their current ataluren clinical trial until the end of that study

Where does this study take place?

This study has 1 visit that takes place at UCLA (Los Angeles, Ca.)

Can any visits be done locally?

No, Visits are only conducted at UCLA

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 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 (NCT03796637).

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