Glycogen storage disease type II Pompe disease
Conditions
Interventions
ATB200/AT2221 will be co-administered as follows: AT2221 260 mg (4 × 65-mg oral
capsules) for subjects weighing >= 50 kg and 195 mg (3 × 65-mg oral capsules)
for subjects weighing >= 40 kg to
Sponsors
Amicus Therapeutics
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Subject must provide signed informed consent prior to any study-related procedures being performed. If the subject is under 20 years of age, the subject must provide written informed consent. 2. Subject must have completed Study ATB200-03. Note: Subjects who were forced to withdraw from Study ATB200-03 for a logistical reason not related to the efficacy or safety of ATB200/AT2221 (eg, hospitalization for a car accident or emergency surgery) and which resulted in several consecutive missed doses may be eligible to participate in this study upon approval by the Amicus medical monitor. 3. Female subjects of childbearing potential and male subjects must agree to use medically accepted methods of contraception during the study and for 90 days after the last dose of study drug.
Exclusion criteria
Exclusion criteria: 1. Subject plans to receive gene therapy or participate in another interventional study for Pompe disease. 2. Subject has a hypersensitivity to any excipients in ATB200 or ATB2221 or medical condition or any other extenuating circumstance that may, in the opinion of the investigator or medical monitor, pose an undue safety risk to the subject or may compromise his/her ability to comply with or adversely impact protocol requirements. This includes clinical depression (as diagnosed by a psychiatrist or other mental health professional) with uncontrolled or poorly controlled symptoms. 3. Subject, if female, is pregnant or breastfeeding. 4. Subject, whether male or female, is planning to conceive a child during the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The long-term safety profile of ATB200/AT2221 will be characterized using incidence of treatment-emergent adverse events (TEAEs), serious adverse events (SAEs), and AEs leading to discontinuation of study drug, frequency and severity of immediate and late IARs, and any abnormalities noted in other safety assessments (eg, clinical laboratory tests, ECGs, vital signs). Immunogenicity to ATB200 will also be described. | — |
Secondary
| Measure | Time frame |
|---|---|
| Efficacy endpoints are as follows: • change from baseline in 6-minute walk distance (6MWD) • change from baseline in 6MWD (% predicted) • change from baseline in sitting FVC (% predicted) • change from baseline in the manual muscle test score for the lower extremities • change from baseline in the total score for the PROMIS - physical function • change from baseline in the total score for the PROMIS - fatigue • change from baseline in the following variables related to motor function: * GSGC total score * time to complete the 10-meter walk (ie, assessment of gait) of the GSGC test * time to complete the 4-stair climb of the GSGC test * time to complete the Gower*s maneuver of the GSGC test * time to arise from a chair as part of the GSGC test * change from baseline in the time to complete the TUG test • change from baseline in the following variables related to muscle strength: * manual muscle test score for the upper extremities * manual muscle test total score (upper and lower extremities combined) * quantitative muscle test value (kg) for the upper extremities * quantitative muscle test value (kg) for the lower extremities * quantitative muscle test total value (kg) (upper and lower extremities combined) • change from baseline in the following variables from patient-reported outcome measures: * total score for the PROMIS - dyspnea * total score for the PROMIS - upper extremity * R-PAct Scale total score * EQ-5D-5L health status • actual value of the subject*s functional status (improving, stable, or declining) pertaining to the effects of study drug in the following areas of life, as measured by the SGIC: * overall physical well-being * effort of breathing * muscle strength * muscle function * ability to move around * activities of daily living * energy level * level of muscular pain • actual value of the subject*s functional status (improving, stable, or declining), as measured by the PGIC • change from baseline in the fol | — |
Countries
Netherlands
Outcome results
None listed