Trial Outcomes & Findings for Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease (NCT NCT00688597)

NCT ID: NCT00688597

Last Updated: 2025-09-11

Results Overview

The number of participants experiencing severe TEAEs is presented for participants who received duvoglustat treatment in this open-label study. The duration of duvoglustat exposure for Cohort 1 ranged from 2 to 24 days, and their exposure ranged from a total of 7,500 to 32,500 milligrams of duvoglustat. An adverse event (AE) refers to any unfavorable and unintended sign, symptom, syndrome, or illness that develops or worsens during the period of observation in the clinical study. The following guideline was used to grade the intensity of an AE: mild, the AE is easily tolerated and does not interfere with daily activity; moderate, the AE interferes with the daily activity but the participant is still able to function; severe, the AE is incapacitating and requires medical intervention. A summary of serious and all other non-serious AEs regardless of causality is located in the Reported Adverse Events module.

Recruitment status

TERMINATED

Study phase

PHASE2

Target enrollment

3 participants

Primary outcome timeframe

Baseline, Week 11

Results posted on

2025-09-11

Participant Flow

Participant milestones

Participant milestones
Measure
Cohort 1
Regimen 1: Low-dose duvoglustat (2.5 grams \[g\]) once a day (QD) for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
Overall Study
STARTED
3
0
0
Overall Study
Received at Least 1 Dose of Study Drug
3
0
0
Overall Study
COMPLETED
0
0
0
Overall Study
NOT COMPLETED
3
0
0

Reasons for withdrawal

Reasons for withdrawal
Measure
Cohort 1
Regimen 1: Low-dose duvoglustat (2.5 grams \[g\]) once a day (QD) for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
Overall Study
Adverse Event
2
0
0
Overall Study
Physician Decision
1
0
0

Baseline Characteristics

Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Cohort 1
n=3 Participants
Regimen 1: Low-dose duvoglustat (2.5 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
Total
n=3 Participants
Total of all reporting groups
Age, Continuous
49.07 years
STANDARD_DEVIATION 11.02 • n=5 Participants
49.07 years
STANDARD_DEVIATION 11.02 • n=4 Participants
Sex: Female, Male
Female
2 Participants
n=5 Participants
2 Participants
n=4 Participants
Sex: Female, Male
Male
1 Participants
n=5 Participants
1 Participants
n=4 Participants

PRIMARY outcome

Timeframe: Baseline, Week 11

Population: Safety Population: All participants who received at least 1 dose of duvoglustat.

The number of participants experiencing severe TEAEs is presented for participants who received duvoglustat treatment in this open-label study. The duration of duvoglustat exposure for Cohort 1 ranged from 2 to 24 days, and their exposure ranged from a total of 7,500 to 32,500 milligrams of duvoglustat. An adverse event (AE) refers to any unfavorable and unintended sign, symptom, syndrome, or illness that develops or worsens during the period of observation in the clinical study. The following guideline was used to grade the intensity of an AE: mild, the AE is easily tolerated and does not interfere with daily activity; moderate, the AE interferes with the daily activity but the participant is still able to function; severe, the AE is incapacitating and requires medical intervention. A summary of serious and all other non-serious AEs regardless of causality is located in the Reported Adverse Events module.

Outcome measures

Outcome measures
Measure
Cohort 1
n=3 Participants
Regimen 1: Low-dose duvoglustat (2.5 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
Proportion Of Participants Experiencing Severe Treatment-emergent Adverse Events (TEAEs)
1 Participants

SECONDARY outcome

Timeframe: Baseline, Week 11

Population: Safety Population: All participants who received at least 1 dose of duvoglustat.

The 6MWT (American Thoracic Society standards) was evaluated in ambulatory participants at screening, baseline, and to the end of the study. It was a standardized test that measured the distance in meters (m) covered over a 6-minute walk. Reference equations used (for 6MWT distance in healthy adults) included: (height in centimeters \[cm\], weight in kilograms \[kg\]) 6MWT distance for men = \[7.57 × height (cm)\] - \[5.02 × age\] - \[1.76 × weight (kg)\] - 309 m; 6MWT distance for women = \[2.11 × height (cm)\] - \[5.78 × age\] - \[2.29 × weight (kg)\] + 667 m

Outcome measures

Outcome measures
Measure
Cohort 1
n=3 Participants
Regimen 1: Low-dose duvoglustat (2.5 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
Change In 6-minute Walk Test (6MWT) From Baseline To End Of Study
-19.660 m
Standard Deviation 41.1845

Adverse Events

Cohort 1

Serious events: 2 serious events
Other events: 3 other events
Deaths: 0 deaths

Cohort 2

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

Cohort 3

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

Serious adverse events

Serious adverse events
Measure
Cohort 1
n=3 participants at risk
Regimen 1: Low-dose duvoglustat (2.5 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
General disorders
Muscular weakness
66.7%
2/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.

Other adverse events

Other adverse events
Measure
Cohort 1
n=3 participants at risk
Regimen 1: Low-dose duvoglustat (2.5 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 2
Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.
Cohort 3
Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.
General disorders
Muscular weakness
66.7%
2/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Flatulence
33.3%
1/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Abdominal pain upper
33.3%
1/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Alanine aminotransferase increased
100.0%
3/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Aspartate aminotransferase increased
100.0%
3/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Blood creatine phosphokinase increased
100.0%
3/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Fall
66.7%
2/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Dysphagia
33.3%
1/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
General disorders
Joint injury
33.3%
1/3 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.
0/0 • Day 1 (after dosing) through end of follow up.
Due to the discontinuation of the study, AEs were not encoded.

Additional Information

Amicus Therapeutics

Patient Advocacy

Phone: +1-609-662-2000

Results disclosure agreements

  • Principal investigator is a sponsor employee The investigator can only publish the results from this trial provided they supply the sponsor (or authorized entity) a copy of any proposed publication for review. If requested, the investigator will remove information deemed confidential or proprietary by the sponsor and will withhold publication for an additional period of time to allow the sponsor to take appropriate measures to establish and preserve its proprietary rights.
  • Publication restrictions are in place

Restriction type: OTHER