Trial Outcomes & Findings for Safety and Biomarker Study of EPI-589 in Participants With Amyotrophic Lateral Sclerosis (ALS) (NCT NCT02460679)

NCT ID: NCT02460679

Last Updated: 2020-10-14

Results Overview

An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Serious adverse event (SAE) was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. AEs included both SAEs and non-serious AEs. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

19 participants

Primary outcome timeframe

Baseline (Day 0) to Month 6

Results posted on

2020-10-14

Participant Flow

Participant milestones

Participant milestones
Measure
EPI-589
Participants received EPI-589 500 milligrams (mg) (2 tablets of 250 mg each) twice daily (BID) for 3 months, unless discontinued for safety or tolerability issues.
Overall Study
STARTED
19
Overall Study
Received at Least 1 Dose of Study Drug
19
Overall Study
COMPLETED
14
Overall Study
NOT COMPLETED
5

Reasons for withdrawal

Reasons for withdrawal
Measure
EPI-589
Participants received EPI-589 500 milligrams (mg) (2 tablets of 250 mg each) twice daily (BID) for 3 months, unless discontinued for safety or tolerability issues.
Overall Study
Investigator Decision
1
Overall Study
Withdrawal by Subject
4

Baseline Characteristics

'Number analyzed' signifies participants evaluable for specified categories.

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
EPI-589
n=19 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Age, Continuous
55.9 years
STANDARD_DEVIATION 8.25 • n=19 Participants
Sex: Female, Male
Female
5 Participants
n=19 Participants
Sex: Female, Male
Male
14 Participants
n=19 Participants
Ethnicity (NIH/OMB)
Hispanic or Latino
2 Participants
n=19 Participants
Ethnicity (NIH/OMB)
Not Hispanic or Latino
17 Participants
n=19 Participants
Ethnicity (NIH/OMB)
Unknown or Not Reported
0 Participants
n=19 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=19 Participants
Race (NIH/OMB)
Asian
1 Participants
n=19 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=19 Participants
Race (NIH/OMB)
Black or African American
1 Participants
n=19 Participants
Race (NIH/OMB)
White
17 Participants
n=19 Participants
Race (NIH/OMB)
More than one race
0 Participants
n=19 Participants
Race (NIH/OMB)
Unknown or Not Reported
0 Participants
n=19 Participants
Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) Score
37.4 units on a scale
STANDARD_DEVIATION 6.19 • n=19 Participants
Vital Capacity
97.7 percentage of capacity
STANDARD_DEVIATION 18.14 • n=19 Participants
Maximum Inspiratory Pressure (MIP)
68.2 centimetres of water at (cm H2O)
STANDARD_DEVIATION 34.53 • n=19 Participants
Respiratory Rate
Sitting
15.1 breaths/minute
STANDARD_DEVIATION 3.32 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Respiratory Rate
After 5 minutes supine
14.7 breaths/minute
STANDARD_DEVIATION 3.71 • n=13 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Respiratory Rate
After 10 minutes supine
14.7 breaths/minute
STANDARD_DEVIATION 3.28 • n=15 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Heart Rate
Sitting
68.9 beats/minute
STANDARD_DEVIATION 10.99 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Heart Rate
After 5 minutes supine
63.8 beats/minute
STANDARD_DEVIATION 13.46 • n=13 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Heart Rate
After 10 minutes supine
65.3 beats/minute
STANDARD_DEVIATION 12.30 • n=15 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Oxygen Saturation (SpO2)
Sitting
96.9 percentage of hemoglobin
STANDARD_DEVIATION 1.65 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Oxygen Saturation (SpO2)
After 5 minutes supine
95.4 percentage of hemoglobin
STANDARD_DEVIATION 2.79 • n=13 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Oxygen Saturation (SpO2)
After 10 minutes supine
95.1 percentage of hemoglobin
STANDARD_DEVIATION 2.70 • n=15 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
End-Tidal Carbon Dioxide (ETCO2)
Sitting
24.833 percentage of CO2
STANDARD_DEVIATION 16.8444 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
End-Tidal Carbon Dioxide (ETCO2)
After 5 minutes supine
30.964 percentage of CO2
STANDARD_DEVIATION 15.9007 • n=13 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
End-Tidal Carbon Dioxide (ETCO2)
After 10 minutes supine
31.186 percentage of CO2
STANDARD_DEVIATION 14.5895 • n=15 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Average Solid Swallowing Time
12.46 seconds
STANDARD_DEVIATION 5.465 • n=19 Participants
Average Water Swallowing Time
4.68 seconds
STANDARD_DEVIATION 3.698 • n=19 Participants
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Grip - Left
26.41 kilograms
STANDARD_DEVIATION 20.630 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Grip - Right
26.86 kilograms
STANDARD_DEVIATION 18.667 • n=18 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Shoulder Flexion - Left
13.94 kilograms
STANDARD_DEVIATION 8.218 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Shoulder Flexion - Right
14.42 kilograms
STANDARD_DEVIATION 9.850 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Knee Extension - Left
22.11 kilograms
STANDARD_DEVIATION 12.796 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Knee Extension - Right
22.13 kilograms
STANDARD_DEVIATION 13.224 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Knee Flexion - Left
17.32 kilograms
STANDARD_DEVIATION 11.832 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Knee Flexion - Right
18.02 kilograms
STANDARD_DEVIATION 12.987 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Hip Flexion - Left
20.13 kilograms
STANDARD_DEVIATION 16.229 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Hip Flexion - Right
20.82 kilograms
STANDARD_DEVIATION 12.738 • n=19 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Elbow Flexion - Left
17.16 kilograms
STANDARD_DEVIATION 9.074 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Elbow Flexion - Right
16.52 kilograms
STANDARD_DEVIATION 10.508 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Elbow Extension - Left
17.51 kilograms
STANDARD_DEVIATION 10.514 • n=17 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Elbow Extension - Right
15.36 kilograms
STANDARD_DEVIATION 10.482 • n=18 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Ankle Dorsi Flexion - Left
16.47 kilograms
STANDARD_DEVIATION 12.188 • n=18 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Muscle Function, as Assessed by Handheld Dynamometry Parameters
Ankle Dorsi Flexion - Right
13.04 kilograms
STANDARD_DEVIATION 10.898 • n=18 Participants • 'Number analyzed' signifies participants evaluable for specified categories.
Number of Words Participant Read
100.3 Words
STANDARD_DEVIATION 0.45 • n=19 Participants
Time Spent in Reading
48.5 seconds
STANDARD_DEVIATION 23.51 • n=19 Participants
Number of Words Per Minute Read
143.529 words/minute
STANDARD_DEVIATION 45.4527 • n=19 Participants

PRIMARY outcome

Timeframe: Baseline (Day 0) to Month 6

Population: Safety population included any participant who received at least 1 dose of EPI-589.

An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Serious adverse event (SAE) was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. AEs included both SAEs and non-serious AEs. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.

Outcome measures

Outcome measures
Measure
EPI-589
n=19 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Number of Participants With Drug-Related Serious Adverse Events (SAEs)
0 Participants

SECONDARY outcome

Timeframe: Pre-dose (0 hour), 0.5, 1, 2, 4, 6, 8, and 12 hours post-dose at Month 1 and 3

Population: EITT population or safety population included any participant who received at least 1 dose of EPI-589. Here, 'Number analyzed' signifies participants evaluable at specified timepoints.

Outcome measures

Outcome measures
Measure
EPI-589
n=19 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Area Under the Plasma Concentration Versus Time Curve From Time 0 to 12 Hours (AUC0-12)
Month 1
7762.7 hours*nanograms/milliliter
Standard Error 721.1
Area Under the Plasma Concentration Versus Time Curve From Time 0 to 12 Hours (AUC0-12)
Month 3
6878.8 hours*nanograms/milliliter
Standard Error 401.1

SECONDARY outcome

Timeframe: Pre-dose (0 hour), 0.5, 1, 2, 4, 6, 8, and 12 hours post-dose at Month 1 and 3

Population: EITT population or safety population included any participant who received at least 1 dose of EPI-589. Here, 'Number analyzed' signifies participants evaluable at specified timepoints.

Outcome measures

Outcome measures
Measure
EPI-589
n=19 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Maximum Observed Plasma Concentration (Cmax)
Month 1
5179.0 ng/mL
Standard Error 930.3
Maximum Observed Plasma Concentration (Cmax)
Month 3
4167.8 ng/mL
Standard Error 642.2

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

ALSFRS-R is a quickly administered (5 minutes) ordinal rating scale that assesses participant's capability and independence in 12 functional activities. All 12 activities, 6 bulbar-respiratory functions, 3 upper extremity functions (writing, cutting food, and dressing), 2 lower-extremity functions (walking and climbing), and 1 other function (turning in bed), are relevant in ALS. Each activity was recorded to the closest approximation from a list of 5 choices, scored 0-4, with the total score ranging from 48 (normal function) to 0 (unable to attempt the task).

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in ALSFRS-R Total Score at Month 6
-4.1 units on a scale
Standard Deviation 4.03

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

Vital capacity is the maximum amount of air a participant can expel from the lungs after a maximum inhalation.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Vital Capacity at Month 6
-3.1 percentage of capacity
Standard Deviation 9.36

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

MIP is a measure of the strength of inspiratory muscles, primarily the diaphragm, and allows for the assessment of ventilatory failure, restrictive lung disease, and respiratory muscle strength.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in MIP at Month 6
2.4 cm H2O
Standard Deviation 24.83

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure. 'Number analyzed' signifies participants evaluable for specified categories.

Respiratory rate is the rate at which breathing occurs.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Respiratory Rate at Month 6
Sitting
0.3 breaths/minute
Standard Deviation 3.45
Change From Baseline in Respiratory Rate at Month 6
After 5 minutes supine
-0.6 breaths/minute
Standard Deviation 5.57
Change From Baseline in Respiratory Rate at Month 6
After 10 minutes supine
0.0 breaths/minute
Standard Deviation 4.32

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure. 'Number analyzed' signifies participants evaluable for specified categories.

The heart rate measures the number of times the heart beats per minute.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Heart Rate at Month 6
Sitting
5.2 beats/minute
Standard Deviation 10.74
Change From Baseline in Heart Rate at Month 6
After 5 minutes supine
7.1 beats/minute
Standard Deviation 7.49
Change From Baseline in Heart Rate at Month 6
After 10 minutes supine
7.2 beats/minute
Standard Deviation 8.39

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure. 'Number analyzed' signifies participants evaluable for specified categories.

SpO2, also known as oxygen saturation, is a measure of the amount of oxygen-carrying hemoglobin in the blood relative to the amount of hemoglobin not carrying oxygen.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in SpO2 at Month 6
Sitting
-1.0 percentage of hemoglobin
Standard Deviation 1.71
Change From Baseline in SpO2 at Month 6
After 5 minutes supine
-0.8 percentage of hemoglobin
Standard Deviation 4.64
Change From Baseline in SpO2 at Month 6
After 10 minutes supine
-0.1 percentage of hemoglobin
Standard Deviation 3.55

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure. 'Number analyzed' signifies participants evaluable for specified categories.

ETCO2 is the amount of CO2 in exhaled air, which assesses ventilation.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in ETCO2 at Month 6
Sitting
2.384 percentage of CO2
Standard Deviation 8.2343
Change From Baseline in ETCO2 at Month 6
After 5 minutes supine
0.605 percentage of CO2
Standard Deviation 5.0262
Change From Baseline in ETCO2 at Month 6
After 10 minutes supine
7.112 percentage of CO2
Standard Deviation 9.6591

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

The failure to thrive as measured by body weight was defined as weight loss of more than 5% from baseline

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Failure to Thrive: Number of Participants With Weight Loss of More Than 5 Percent (%) From Baseline at Month 6
2 Participants

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Number analyzed' signifies participants evaluable for specified categories.

Participants were observed and timed swallowing water as well as solid foods in accordance with a standardized protocol.

Outcome measures

Outcome measures
Measure
EPI-589
n=19 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Average Solid Swallowing Time and Water Swallowing Time at Month 6
Average Solid Swallowing Time
4.80 seconds
Standard Deviation 11.718
Change From Baseline in Average Solid Swallowing Time and Water Swallowing Time at Month 6
Average Water Swallowing Time
6.65 seconds
Standard Deviation 20.950

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure. 'Number analyzed' signifies participants evaluable for specified categories.

The strength of designated muscle groups was measured using handheld dynamometry.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Hip Flexion - Left
-6.84 kilograms
Standard Deviation 12.579
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Grip - Left
-9.69 kilograms
Standard Deviation 15.330
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Grip - Right
-7.28 kilograms
Standard Deviation 7.207
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Shoulder Flexion - Left
-4.53 kilograms
Standard Deviation 6.922
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Shoulder Flexion - Right
-5.43 kilograms
Standard Deviation 8.915
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Knee Extension - Left
-5.42 kilograms
Standard Deviation 10.254
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Knee Extension - Right
-5.05 kilograms
Standard Deviation 11.505
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Knee Flexion - Left
-4.63 kilograms
Standard Deviation 8.237
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Knee Flexion - Right
-4.01 kilograms
Standard Deviation 9.170
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Hip Flexion - Right
-5.60 kilograms
Standard Deviation 9.627
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Elbow Flexion - Left
-4.84 kilograms
Standard Deviation 8.377
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Elbow Flexion - Right
-3.28 kilograms
Standard Deviation 8.186
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Elbow Extension - Left
-5.77 kilograms
Standard Deviation 10.511
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Elbow Extension - Right
-4.28 kilograms
Standard Deviation 9.048
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Ankle Dorsi Flexion - Left
-6.12 kilograms
Standard Deviation 7.609
Change From Baseline in Muscle Function at Month 6, as Assessed by Handheld Dynamometry Parameters (Grip Strength, Shoulder Flexion, Knee Extension, Hip Flexion, Elbow Flexion, Elbow Extension, and Ankle Dorsi Flexion)
Ankle Dorsi Flexion - Right
-4.89 kilograms
Standard Deviation 7.529

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

The participant performed tasks in which speech was assessed through a perceptual assessment of overall intelligibility, vocal quality, and other factors by a speech language pathologist.

Outcome measures

Outcome measures
Measure
EPI-589
n=13 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Number of Words Participant Read at Month 6
0.0 words
Standard Deviation 0.00

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

The participant performed tasks in which speech was assessed through a perceptual assessment of overall intelligibility, vocal quality, and other factors by a speech language pathologist.

Outcome measures

Outcome measures
Measure
EPI-589
n=13 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Time Spent in Reading at Month 6
5.5 seconds
Standard Deviation 11.78

SECONDARY outcome

Timeframe: Baseline, Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

The participant performed tasks in which speech was assessed through a perceptual assessment of overall intelligibility, vocal quality, and other factors by a speech language pathologist.

Outcome measures

Outcome measures
Measure
EPI-589
n=13 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Change From Baseline in Number of Words Per Minute Read at Month 6
-147.535 words/minute
Standard Deviation 26.7792

SECONDARY outcome

Timeframe: Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants evaluable for this outcome measure.

The participant performed tasks in which speech was assessed through a perceptual assessment of overall intelligibility, vocal quality, and other factors by a speech language pathologist.

Outcome measures

Outcome measures
Measure
EPI-589
n=13 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Number of Participants With Normal Loudness, Normal Nasality, and Normal Intelligibility
Normal Loudness
10 Participants
Number of Participants With Normal Loudness, Normal Nasality, and Normal Intelligibility
Normal Nasality
6 Participants
Number of Participants With Normal Loudness, Normal Nasality, and Normal Intelligibility
Normal Intelligibility
6 Participants

SECONDARY outcome

Timeframe: Baseline up to Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants with both baseline and Month 6 glutathione in plasma data.

Glutathione lowest limit of quantification (LLOQ) = 0.089 micromoles (uM) and upper limit of quantification (ULOQ) = 13.916 uM in plasma.

Outcome measures

Outcome measures
Measure
EPI-589
n=15 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Level of Disease-Related Biomarker (Glutathione) in Plasma
Baseline
1.34 µM
Interval 0.41 to 2.15
Level of Disease-Related Biomarker (Glutathione) in Plasma
Month 6
2.73 µM
Interval 0.83 to 11.74

SECONDARY outcome

Timeframe: Baseline up to Month 3

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants with both baseline and Month 3 glutathione in CSF data.

Glutathione LLOQ = 0.002 uM and ULOQ = 0.35 uM in CSF.

Outcome measures

Outcome measures
Measure
EPI-589
n=10 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Level of Disease-Related Biomarker (Glutathione) in Cerebrospinal Fluid (CSF)
Baseline
0.13 µM
Interval 0.04 to 0.31
Level of Disease-Related Biomarker (Glutathione) in Cerebrospinal Fluid (CSF)
Month 3
0.13 µM
Interval 0.06 to 0.31

SECONDARY outcome

Timeframe: Baseline up to Month 6

Population: EITT population included any participant who received at least 1 dose of EPI-589. Here, 'Overall number of participants analyzed' signifies participants with both baseline and Month 6 glutathione in urine data.

Glutathione LLOQ = 0.01 uM, and ULOQ = 1.39 uM in urine.

Outcome measures

Outcome measures
Measure
EPI-589
n=14 Participants
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Level of Disease-Related Biomarker (Glutathione) in Urine
Baseline
0.12 µM
Interval 0.03 to 0.46
Level of Disease-Related Biomarker (Glutathione) in Urine
Month 6
0.17 µM
Interval 0.02 to 0.82

Adverse Events

EPI-589

Serious events: 0 serious events
Other events: 15 other events
Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure
EPI-589
n=19 participants at risk
Participants received EPI-589 500 mg (2 tablets of 250 mg each) BID for 3 months, unless discontinued for safety or tolerability issues.
Cardiac disorders
Aortic valve incompetence
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Ear and labyrinth disorders
Vertigo
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Eye disorders
Eye pain
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Eye disorders
Vision blurred
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Abdominal pain lower
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Abdominal pain upper
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Constipation
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Diarrhoea
10.5%
2/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Nausea
31.6%
6/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Salivary hypersecretion
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Gastrointestinal disorders
Vomiting
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
General disorders
Asthenia
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
General disorders
Chest pain
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
General disorders
Chills
10.5%
2/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
General disorders
Fatigue
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Immune system disorders
Hypersensitivity
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Immune system disorders
Seasonal allergy
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Infections and infestations
Clostridium difficile infection
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Infections and infestations
Nasopharyngitis
15.8%
3/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Infections and infestations
Urinary tract infection
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Injury, poisoning and procedural complications
Contusion
10.5%
2/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Injury, poisoning and procedural complications
Fall
26.3%
5/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Injury, poisoning and procedural complications
Post lumbar puncture syndrome
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Injury, poisoning and procedural complications
Upper limb fracture
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Investigations
Alanine aminotransferase increased
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Investigations
Aspartate aminotransferase increased
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Investigations
Blood pressure increased
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Investigations
Blood testosterone decreased
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Metabolism and nutrition disorders
Decreased appetite
15.8%
3/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Musculoskeletal and connective tissue disorders
Back pain
21.1%
4/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Musculoskeletal and connective tissue disorders
Muscle spasms
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Musculoskeletal and connective tissue disorders
Muscular weakness
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Musculoskeletal and connective tissue disorders
Musculoskeletal pain
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Musculoskeletal and connective tissue disorders
Pain in extremity
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
Benign hepatic neoplasm
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Aura
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Balance disorder
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Dizziness
10.5%
2/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Dysarthria
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Headache
15.8%
3/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Hypoaesthesia
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Hypokinesia
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Paraesthesia
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Nervous system disorders
Tension headache
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Psychiatric disorders
Depression
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Psychiatric disorders
Disorientation
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Respiratory, thoracic and mediastinal disorders
Dyspnoea
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Respiratory, thoracic and mediastinal disorders
Nasal congestion
10.5%
2/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Respiratory, thoracic and mediastinal disorders
Oropharyngeal pain
21.1%
4/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Respiratory, thoracic and mediastinal disorders
Productive cough
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.
Skin and subcutaneous tissue disorders
Acne
5.3%
1/19 • Baseline (Day 0) to Month 6
Safety population included any participant who received at least 1 dose of EPI-589.

Additional Information

Patient Advocacy

PTC Therapeutics, Inc.

Phone: 1-866-562-4620

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