Trial Outcomes & Findings for A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren (NCT NCT03796637)

Last Updated: 2022-04-05

Results Overview

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)

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

6 participants

Primary outcome timeframe

Day 1 of biopsy

Results posted on

2022-04-05

Participant Flow

Participant milestones

Participant milestones
Measure	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.
Overall Study STARTED	6
Overall Study COMPLETED	6
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Ataluren n=6 Participants 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.
Age, Continuous	10.2 years STANDARD_DEVIATION 2.04 • n=5 Participants
Sex: Female, Male Female	0 Participants n=5 Participants
Sex: Female, Male Male	6 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	0 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	6 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	0 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	6 Participants n=5 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants

PRIMARY outcome

Timeframe: Day 1 of biopsy

Population: ITT population included all enrolled participants with a valid assessment of dystrophin level, as measured by ECL.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants 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.
Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) Gastrocnemius	0.0844 nanograms (ng)/mg Standard Deviation 0.05874
Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) Tibialis Anterior	0.1002 nanograms (ng)/mg Standard Deviation 0.08060
Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) Across Muscle Locations	0.1054 nanograms (ng)/mg Standard Deviation 0.08300

SECONDARY outcome

Timeframe: Day 1 of biopsy

Population: ITT population included all enrolled participants with a valid assessment of dystrophin level, as measured by ECL.

Dystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations).

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants 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.
Dystrophin Protein Levels as Determined by Immunohistochemistry Gastrocnemius	0.28817 ng/mg Standard Deviation 0.220547
Dystrophin Protein Levels as Determined by Immunohistochemistry Tibialis Anterior	0.26578 ng/mg Standard Deviation 0.226510
Dystrophin Protein Levels as Determined by Immunohistochemistry Across Muscle Locations	0.30483 ng/mg Standard Deviation 0.218600

Adverse Events

Ataluren

Serious events: 0 serious events

Other events: 2 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Ataluren n=6 participants at risk 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.
General disorders Puncture site discharge	16.7% 1/6 • Baseline (Day 1) up to Week 1 Safety population included all participants who received at least 1 dose of ataluren.
Injury, poisoning and procedural complications Procedural pain	33.3% 2/6 • Baseline (Day 1) up to Week 1 Safety population included all participants who received at least 1 dose of ataluren.

Additional Information

Medical Information

PTC Therapeutics, Inc.

Phone: 1-866-562-4620

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee 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.
Publication restrictions are in place

Restriction type: OTHER