Pompe Disease MedDRA version: 9.1 Level: LLT Classification code 10036143 Term: Pompe's disease
Conditions
Interventions
Product Code: AT2220
Pharmaceutical Form: Powder for oral solution
CAS Number: 73285-50-4
Current Sponsor code: AT2220
Other descriptive name: 1-deoxynojirimycin hydrochloride
Concentration unit: g g
Sponsors
Amicus Therapeutics, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Male or female, 18 to 74 years of age at time of consent 2. Diagnosis of Pompe disease based on clinical assessment, enzyme assay, and/or genotyping. Confirmatory GAA genotyping will be performed on all subjects who are screened for the study. 3. Naïve to ERT or has not received ERT in the 3 months prior to screening 4. Willing not to initiate ERT or other prohibited treatment during study participation 5. Functional grade for arms and/or legs =2 (See Appendix 2) OR sitting FVC = 30% and =65 years) yes F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Any intercurrent condition that may preclude accurate interpretation of study data 2. Obstructive pulmonary disease 3. Invasive ventilatory support 4. Use of noninvasive ventilatory support > 8 hours a day while awake 5. History of QTc prolongation > 450 msec for males and > 470 msec for females 6. History of allergy or sensitivity to the study drug, including any prior serious adverse reaction to iminosugars (e.g., miglustat, miglitol) 7. Pregnancy or breast-feeding 8. Current or recent drug or alcohol abuse 9. Treatment with another investigational drug within 30 days of study start 10. Use of prohibited medications < 3 months prior to screening 11. Otherwise unsuitable for the study in the opinion of investigator (e.g., a subject with poor reproducibility of assessments between days -28 and -27 may be excluded at the investigator’s discretion)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the safety and tolerability of AT2220 in patients with Pompe disease ;Secondary Objective: • To evaluate the effect of AT2220 on functional parameters of Pompe disease • To evaluate the effect of AT2220 on pharmacodynamic parameters of Pompe disease • To evaluate pharmacokinetics of AT2220 ;Primary end point(s): • Treatment-emergent physical exam changes up to end of study (EOS) visit • Treatment-emergent vital signs (blood pressure, heart rate, respiratory rate) changes up to EOS • Treatment-emergent safety laboratory test (hematology, chemistry, urinalysis) abnormalities up to EOS • Treatment-emergent ECG abnormalities up to EOS • Treatment-emergent adverse events (AEs) up to 24 hours after EOS • Treatment-emergent changes in concomitant medications up to EOS • Adverse events leading to permanent discontinuation of study medication • Serious adverse events (SAEs) up to 28 days after study medication discontinuation | — |
Countries
Germany, United Kingdom
Outcome results
None listed