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

A Study to Assess Dystrophin Levels in Participants with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD

Questions and Answers

What stage is this research?

The goal of this study is to assess the production of dystrophin in participants with nonsense mutation Duchenne muscular dystrophy

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

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 with Duchenne, age 2 to 7 years
  • Positive for a nonsense point mutation in the dystrophin gene
  • Willingness to undergo 2 needle muscle biopsies, 1 at the study start and 1 after 40 weeks
  • No previous exposure to ataluren treatment
  • 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 before and after 40 weeks of ataluren therapy using needle muscle biopsies using two validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry. There will be periodic visits in between for evaluation

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 anticipated length of the study is 40 weeks during which all participants will receive ataluren

At the end of the study, participants may have the opportunity to continue ataluren through an on-going extension study

Where does this study take place?

This study takes place at multiple sites within the United States; Biopsies are performed at UCLA (Los Angeles, Ca.)

How many visits to the study site are necessary?

In addition to the screening visit there will be a total of 3 visits – 2 at UCLA for biopsies and 1 at study site for evaluation and dosing adjustment

Can any visits be done locally?

Visits are only conducted at the study sites and 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 you 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 www.ClinicalTrials.gov (NCT03648827).

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