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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-001691-11 | EudraCT Number |
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This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants. This study will evaluate dystrophin levels from participants with nmDMD who currently have been receiving ataluren for ≥9 months.
The study will have a single visit (Visit 1).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| nmDMD Participants | Experimental | Participants who have been receiving ataluren, will be dosed daily 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for >=9 months from ongoing PTC-sponsored nmDMD clinical trials. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ataluren | Drug | Ataluren will be administered as per the dose and schedule specified in the arm. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) | The mean dystrophin protein levels were measured by ECL. Dystrophin levels are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). Results below the limit of quantitation were imputed as half of lower limit of quantitation (LLOQ). LLOQ = 0.5 micrograms (μg)/milliliter (mL) | Day 1 of biopsy |
| Measure | Description | Time Frame |
|---|---|---|
| Dystrophin Protein Levels as Determined by Immunohistochemistry | Dystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). | Day 1 of biopsy |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Francesco Bibbiani, MD | PTC Therapeutics, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, Los Angeles (UCLA) | Los Angeles | California | 90025 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Ataluren | Participants who had been receiving ataluren, were dosed daily 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for ≥9 months from ongoing PTC-sponsored nmDMD clinical trials. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
Intent-to-treat (ITT) population included all enrolled participants with a valid assessment of dystrophin level, as measured by electrochemiluminescence (ECL).
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| ID | Title | Description |
|---|---|---|
| BG000 | Ataluren | Participants who had been receiving ataluren, were dosed daily 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for ≥9 months from ongoing PTC-sponsored nmDMD clinical trials. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) | The mean dystrophin protein levels were measured by ECL. Dystrophin levels are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). Results below the limit of quantitation were imputed as half of lower limit of quantitation (LLOQ). LLOQ = 0.5 micrograms (μg)/milliliter (mL) | ITT population included all enrolled participants with a valid assessment of dystrophin level, as measured by ECL. | Posted | Mean | Standard Deviation | nanograms (ng)/mg | Day 1 of biopsy |
|
Baseline (Day 1) up to Week 1
Safety population included all participants who received at least 1 dose of ataluren.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Ataluren | Participants who had been receiving ataluren, were dosed daily 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for ≥9 months from ongoing PTC-sponsored nmDMD clinical trials. |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Puncture site discharge | General disorders | MedDRA 22.1 | Systematic Assessment |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Medical Information | PTC Therapeutics, Inc. | 1-866-562-4620 | medinfo@ptcbio.com |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Mar 20, 2019 | Mar 9, 2022 | Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | Feb 12, 2020 | Mar 9, 2022 | SAP_001.pdf |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| ID | Term |
|---|---|
| C515878 | ataluren |
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| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
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| Race (NIH/OMB) | Count of Participants | Participants |
|
| Units | Counts |
|---|---|
| Participants |
|
|
| Secondary | Dystrophin Protein Levels as Determined by Immunohistochemistry | Dystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). | ITT population included all enrolled participants with a valid assessment of dystrophin level, as measured by ECL. | Posted | Mean | Standard Deviation | ng/mg | Day 1 of biopsy |
|
|
|
| 0 |
| 6 |
| 0 |
| 6 |
| 2 |
| 6 |
| Procedural pain | Injury, poisoning and procedural complications | MedDRA 22.1 | Systematic Assessment |
|
The Sponsor can review results and/or communications prior to public release and can embargo communications regarding trial results for a period that is up to 180 days from the time submitted to the sponsor for review. The sponsor may consult with the PI to require changes to the communication or extend the embargo.
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Title | Measurements |
|---|---|
|