Nonsene Mutation Duchenne Muscular DystrophyPhase 2NCT04336826
A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
A Phase 2 study testing Ataluren in people with Nonsene Mutation Duchenne Muscular Dystrophy, run by PTC Therapeutics at 1 site in United States.
Trial summary
This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to <2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively). Read more about this study
- Who is it for?
- Ages 6 months to 2 years, men only
- Conditions the study is for
- Nonsene Mutation Duchenne Muscular Dystrophy
- What is being tested?
- Ataluren
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Dec 2021to 7 Aug 2023
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 2 years
- Men only
- No healthy volunteers
- Child
Who may be able to join
- Body weight ≥7.5 kilograms (kg)
- Diagnosis of duchenne muscular dystrophy (DMD) based on an elevated serum creatine kinase and genotypic evidence of dystrophinopathy.
- Documentation of the presence of a nonsense mutation of the dystrophin gene as determined by gene sequencing prior to enrollment.
Who cannot join
- Participation in any drug or device investigation or whose sibling is currently participating in a blinded portion of another ataluren study or received an investigational drug within three months prior to the Screening Visit or who anticipate participating in any other drug or device clinical investigation or receiving any other investigational drug within the duration of this study.
- Expectation of a major surgical procedure during the study period.
- Known hypersensitivity to any of the ingredients or excipients of the study drug (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate).
- Ongoing use of the following drugs:
- Systemic aminoglycoside therapy and/or intravenous (IV) vancomycin.
- Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel.
- Inducers of UGT1A9 (for example, rifampicin), or substrates of OAT1 or OAT3 (for example, ciprofloxacin, adefovir, oseltamivir, aciclovir, captopril, furosemide, bumetanide, valsartan, pravastatin, rosuvastatin, atorvastatin, pitavastatin).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy
This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to <2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).
Read the detailed description
Participants who complete the 24-week treatment period in this study will be offered participation to a follow-up extension period for at least 52 weeks from the date of first administration of ataluren in this parent study.
- Being tested
- Ataluren
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AtalurenDrug
Also called PTC124
Ataluren will be administered as per the dose and schedule specified in the arm.
| Study group | Role | What they receive |
|---|---|---|
| Ataluren | Experimental | Participants will receive ataluren oral suspension 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 24 weeks. Receives: Drug: Ataluren |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
An adverse event (AE) was as any untoward medical occurrence associated with the use of a drug in humans, whether or not considered drug related. Serious adverse event (SAE): an AE that met at least 1 of the following criteria: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability/incapacity or substantial disruption of the ability to conduct normal life functions, congenital anomaly/birth defect, important medical event. A TEAE was defined as an AE that occurred or worsened while on ataluren (on or after first dose of ataluren) up to 4 weeks after the last dose. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Reported Adverse Events' Section.
Measured: Baseline up to Week 28
Secondary outcomes (5)
Area Under the Concentration-Time Curve From Time 0 to 24 Hours (AUC0-24) of Ataluren
Measured: Predose up to 12 hours postdose at Week 24
Area Under the Concentration-Time Curve Between Dosing Interval (AUC0-τ) of Ataluren
Measured: Predose up to 12 hours postdose at Week 24
Maximum Concentration (Cmax) of Ataluren
Measured: Predose up to 12 hours postdose at Week 24
Time to Maximum Plasma Concentration (Tmax) of Ataluren
Measured: Predose up to 12 hours postdose at Week 24
Trough Concentration (Ctrough) of Ataluren
Measured: Predose up to 12 hours postdose at Week 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Apr 2020
- Study start29 Dec 2021
- Primary completion7 Aug 2023
- Study completion7 Aug 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Nonsene Mutation Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Vinay Penematsa, Study director, PTC Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04336826
- Sponsor's protocol ID
- PTC124-GD-048-DMD
- Other IDs
- 2020-000980-21
- Status last verified
- Feb 2024
- First submitted
- 3 Apr 2020
- Last updated
- 1 Apr 2024
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT04336826
- Acronym / sponsor ID
- PTC124-GD-048-DMD
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 29 Dec 2021 (actual)
- Primary completion
- 7 Aug 2023 (actual)
- Study completion
- 7 Aug 2023 (actual)
- First posted
- 7 Apr 2020 (actual)
- Results
- Posted 1 Apr 2024
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to <2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).
Detailed description
Participants who complete the 24-week treatment period in this study will be offered participation to a follow-up extension period for at least 52 weeks from the date of first administration of ataluren in this parent study.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ataluren | Experimental | Drug: AtalurenParticipants will receive ataluren oral suspension 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 24 weeks. |
Who may qualify
- Ages
- 6 months to 2 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Body weight ≥7.5 kilograms (kg)
- Diagnosis of duchenne muscular dystrophy (DMD) based on an elevated serum creatine kinase and genotypic evidence of dystrophinopathy.
- Documentation of the presence of a nonsense mutation of the dystrophin gene as determined by gene sequencing prior to enrollment.
Key exclusion criteria (7 listed)
- Participation in any drug or device investigation or whose sibling is currently participating in a blinded portion of another ataluren study or received an investigational drug within three months prior to the Screening Visit or who anticipate participating in any other drug or device clinical investigation or receiving any other investigational drug within the duration of this study.
- Expectation of a major surgical procedure during the study period.
- Known hypersensitivity to any of the ingredients or excipients of the study drug (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate).
- Ongoing use of the following drugs:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AtalurenAlso: PTC124Ataluren will be administered as per the dose and schedule specified in the arm. | Drug | Ataluren |
Primary outcome
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
Time frame: Baseline up to Week 28
An adverse event (AE) was as any untoward medical occurrence associated with the use of a drug in humans, whether or not considered drug related. Serious adverse event (SAE): an AE that met at least 1 of the following criteria: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability/incapacity or substantial disruption of the ability to conduct normal life functions, congenital anomaly/birth defect, important medical event. A TEAE was defined as an AE that occurred or worsened while on ataluren (on or after first dose of ataluren) up to 4 weeks after the last dose. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Reported Adverse Events' Section.
5 secondary outcomes
Area Under the Concentration-Time Curve From Time 0 to 24 Hours (AUC0-24) of Ataluren
Time frame: Predose up to 12 hours postdose at Week 24
Area Under the Concentration-Time Curve Between Dosing Interval (AUC0-τ) of Ataluren
Time frame: Predose up to 12 hours postdose at Week 24
Maximum Concentration (Cmax) of Ataluren
Time frame: Predose up to 12 hours postdose at Week 24
Time to Maximum Plasma Concentration (Tmax) of Ataluren
Time frame: Predose up to 12 hours postdose at Week 24
Trough Concentration (Ctrough) of Ataluren
Time frame: Predose up to 12 hours postdose at Week 24
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2024.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vinay Penematsa study director
PTC Therapeutics, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Ataluren in people with Nonsene Mutation Duchenne Muscular Dystrophy, run by PTC Therapeutics at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 1 Apr 2024). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Treatment-Emergent Adverse Events (TEAEs) (time frame: Baseline up to Week 28). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2024.