Ataluren for Duchenne Muscular Dystrophy

Enrolling by invitation at 41 trial locations

Age: Any Age

Sex: Male

Trial Phase: Phase 3

Sponsor: PTC Therapeutics

Must be taking: Ataluren

Must not be taking: IV aminoglycosides, IV vancomycin

Disqualifiers: Hepatitis B, Hepatitis C, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: Up to approximately 8 years

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines the safety of a drug called ataluren for individuals with nonsense mutation Duchenne Muscular Dystrophy (nmDBMD), a condition that progressively weakens muscles. The drug is administered in three doses throughout the day, and researchers aim to assess its tolerance in those who have previously tried it in another study or treatment plan. Ideal participants include those who have received ataluren in past clinical trials or their siblings with nmDBMD who have completed the placebo phase of the trial. As a Phase 3 trial, this study represents the final step before FDA approval, offering participants the opportunity to contribute to a potentially groundbreaking treatment.

Do I have to stop taking my current medications for the trial?

The trial does not specify if you need to stop taking your current medications, but you cannot be on ongoing intravenous aminoglycoside or vancomycin therapy. It's best to discuss your specific medications with the trial team.

Is there any evidence suggesting that this treatment is likely to be safe for humans?

Research has shown that ataluren is generally safe for people with Duchenne Muscular Dystrophy. One study found serious side effects were rare, occurring in only 7.1% of those taking ataluren compared to 6.8% of those taking a placebo (a harmless pill). No deaths were reported, which is reassuring.

Other findings confirm existing knowledge about ataluren's safety. Although some participants withdrew from studies, their reasons were not clearly linked to safety issues. Overall, the evidence suggests that ataluren is safe for long-term use. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Ataluren is unique because it specifically targets a genetic mutation responsible for Duchenne Muscular Dystrophy (DMD), known as a nonsense mutation. Unlike standard treatments for DMD, which mainly focus on managing symptoms or slowing progression, Ataluren works by encouraging the body's protein-making machinery to bypass this mutation, potentially allowing for the production of functional dystrophin protein. This approach is exciting because it directly addresses the root cause of the disease in patients with this specific mutation, offering hope for improved muscle function and quality of life.

What evidence suggests that ataluren might be an effective treatment for Duchenne Muscular Dystrophy?

Research has shown that ataluren can help treat Duchenne Muscular Dystrophy, particularly in patients with a specific genetic change called a nonsense mutation. Studies have found that ataluren slows the loss of muscle function. For instance, patients taking ataluren experienced a smaller decrease in their ability to walk compared to those taking a placebo. Real-world evidence also suggests that ataluren can slow the disease's progression, improving patients' quality of life. Overall, the treatment is considered to have a favorable benefit-risk balance, meaning the benefits outweigh the risks for many patients. ^{1 4 5 6 7}

Who Is on the Research Team?

Vinay Penematsa, MD

Principal Investigator

PTC Therapeutics, Inc.

Are You a Good Fit for This Trial?

This trial is for individuals with a type of muscular dystrophy called nmDBMD who have previously taken Ataluren in a PTC sponsored clinical trial or treatment plan. It's also open to siblings of these participants if they've finished the placebo part of another study. Participants must understand and agree to the study requirements, be able to attend all visits, and men must use birth control during the study.

Inclusion Criteria

I agree to use contraception during and up to 50 days after the study if I am a fertile man not having had a vasectomy.

I have previously taken ataluren in a study or am a sibling of someone who has, after they completed the trial's initial phase.

I have previously taken ataluren in a study or have a sibling with nmDBMD who did.

Exclusion Criteria

I tested positive for Hepatitis B or C and have not used ataluren before or had a break from it for a year.

I am not allergic to any components of ataluren medication.

Exposure to another investigational drug within 1 month prior to start of study treatment.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive 3 doses of ataluren oral suspension per day (10 mg/kg in the morning, 10 mg/kg at mid-day and 20 mg/kg in the evening)

Up to approximately 8 years

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Ataluren

Trial Overview The trial is testing the safety and tolerability of Ataluren at doses of 10 mg/kg (twice daily) and 20 mg/kg (once daily). The medication will be given until certain conditions are met such as consent withdrawal, worsening condition after starting treatment, eligibility for another Ataluren trial, or commercial availability.

How Is the Trial Designed?

Group I: Ataluren Experimental Treatment 1 Intervention

Participants will receive 3 doses of ataluren oral suspension per day (10 mg/kg in the morning, 10 mg/kg at mid-day and 20 mg/kg in the evening).

Who Is Running the Clinical Trial?

PTC Therapeutics

Lead Sponsor

Trials

75

Recruited

6,300+

Dr. Matthew B. Klein

PTC Therapeutics

Chief Executive Officer since 2023

BA from the University of Pennsylvania, MD from Yale University School of Medicine, MS in Epidemiology from the University of Washington School of Public Health

Dr. Stuart W. Peltz

PTC Therapeutics

Chief Medical Officer since 2023

MD from Harvard Medical School

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11683810/

Safety and effectiveness of ataluren in patients with ... Ataluren treatment was more effective in individuals with a baseline 6MWD of at least 300 m, as these patients had a smaller decline in 6MWD, ...

2. becarispublishing.com becarispublishing.com/doi/full/10.57264/cer-2024-0238

Confirmatory long-term efficacy and safety results of ... What do the results of the study mean? These results helped to confirm that ataluren slows muscle function decline compared with placebo, ...

3. clinicaltrials.gov clinicaltrials.gov/study/NCT03179631

Long-Term Outcomes of Ataluren in Duchenne Muscular ... This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

4. patientworthy.com patientworthy.com/2025/07/15/real-world-outcomes-of-ataluren-in-duchenne-muscular-dystrophy-evidence-from-the-stride-registry/

Real-World Outcomes of Ataluren in Duchenne Muscular ... Importantly, the real-world data indicate that ataluren is associated with a meaningful delay in disease progression. Patients in the STRIDE ...

5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/40843507/

Confirmatory long-term efficacy and safety results of ... Conclusion: Long-term ataluren treatment has a favorable benefit-risk profile, slowing motor function decline in the largest phase III nmDMD study to date.

6. parentprojectmd.org parentprojectmd.org/wp-content/uploads/2020/07/2020Poster_Muntoni_PTC.pdf

Demographic and safety data from patients with nonsense ... • Duchenne muscular dystrophy (DMD) is a severe, X-linked, recessive ... • Safety outcomes were consistent with the known safety profile of ataluren. (Table ...

7. sciencedirect.com sciencedirect.com/science/article/abs/pii/S096089662300487X

P198 Updated demographics and safety data from patients ... Safety outcomes were consistent with the known safety profile of ataluren. Fifty-one of the 315 patients discontinued the study. Of the 315 patients, 298 were ...