Principal Investigator: Nicola Longo
Keywords: Pompe , Amicus Department: Pediatric Genetics
IRB Number: 00128835
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Enrolling by invitation

Contact Information

Carrie Bailey
carrie.bailey@hsc.utah.edu
8015873605

Brief Summary

Objectives:
Primary
The primary objective of this study is to assess the long-term safety and tolerability of
ATB200/AT2221 co-administration.
Secondary
The secondary objectives of this study are as follows:
• to assess the long-term efficacy of ATB200/AT2221 co-administration on ambulatory function, as measured by the 6-minute walk test (6MWT)
• to assess the long-term efficacy of ATB200/AT2221 co-administration on pulmonary function, as measured by sitting forced vital capacity (FVC) (% predicted)
• to assess the long-term efficacy of ATB200/AT2221 co-administration on muscle strength
• to assess the long-term efficacy of ATB200/AT2221 co-administration on health-related patient-reported outcomes
• to assess the long-term efficacy of ATB200/AT2221 co-administration on motor function
• to assess the long-term efficacy of ATB200/AT2221 co-administration on overall clinical impression, as assessed by both physician and subject
• to assess the long-term efficacy of ATB200/AT2221 co-administration on measures of pulmonary function other than FVC (% predicted)
• to assess the long-term effect of ATB200/AT2221 co-administration on biomarkers of muscle injury and disease substrate
• to assess the immunogenicity of ATB200/AT2221 co-administration
• to characterize the pharmacokinetics of ATB200 and AT2221 using plasma total GAA protein level by signature peptide and plasma AT2221 concentration assays in subjects at sites in Japan only
• to explore the exposure-response relationship for ATB200/AT2221 in subjects at sites in Japan only

 

Purpose: 

The goal of this study is to determine the long-term effectiveness of a new combination treatment, called ATB200 and AT2221. The purpose is to see how the treatments are effective in treating patients with Pompe disease. 

Inclusion Criteria

1. Subject must provide signed informed consent prior to any study-related procedures being performed.
2. Subjects 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

1. Subject plans to receive gene therapy or participate in another interventional study for Pompe disease.
2. Subject has a 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.