An open-label, multicenter, study to evaluate the safety, tolerability, pharmacodynamics, and pharmacokinetics of three dosing regimens of oral AT2220 in patients with Pompe disease

Conditions: Pompe Disease
MedDRA version: 9.1Level: LLTClassification code 10036143Term: Pompe's disease

Registration Number: EUCTR2008-002302-18-GB

Lead Sponsor: Amicus Therapeutics, Inc.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 18

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 < 80% of predicted value, with maximum FVC (L) value reproducible (± 15 % ) between Visits 1 and 2
6. Subjects of reproductive potential agree to use reliable methods of contraception during the study
7. Subject is willing and able to provide written informed consent.

Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range

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)

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: To evaluate the safety and tolerability of AT2220 in patients with Pompe disease<br><br>;Secondary Objective: • To evaluate the effect of AT2220 on functional parameters of Pompe disease <br>• To evaluate the effect of AT2220 on pharmacodynamic parameters of Pompe disease <br>• To evaluate pharmacokinetics of AT2220<br>;Primary end point(s): • Treatment-emergent physical exam changes up to end of study (EOS) visit<br>• Treatment-emergent vital signs (blood pressure, heart rate, respiratory rate) changes up to EOS<br>• Treatment-emergent safety laboratory test (hematology, chemistry, urinalysis) abnormalities up to EOS<br>• Treatment-emergent ECG abnormalities up to EOS <br>• Treatment-emergent adverse events (AEs) up to 24 hours after EOS<br>• Treatment-emergent changes in concomitant medications up to EOS<br>• Adverse events leading to permanent discontinuation of study medication <br>• Serious adverse events (SAEs) up to 28 days after study medication discontinuation <br>

Secondary Outcome Measures