ATB200-08
Research type
Research Study
Full title
An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects with Infantile-onset Pompe Disease Aged 0 to < 18 Years
IRAS ID
1006831
Contact name
Patient Advocacy
Contact email
Sponsor organisation
Amicus Therapeutics, Inc.
Eudract number
2020-003491-41
Clinicaltrials.gov Identifier
Research summary
Pompe disease is a rare genetic disorder produced by mutations in the GGA gene resulting in an absence or low levels of the enzyme alpha-glucosidase which is needed to convert glycogen to glucose in cells. This leads to a build-up of glycogen in the cells of several tissues, particularly cardiac, skeletal, and smooth muscle cells, leading to progressive muscle weakness and breathing difficulties. First symptoms can occur at any age from birth to late adulthood. Earlier onset is usually associated with faster progression and greater disease severity.
Enzyme replacement therapy (ERT) is the only approved treatment available, which has shown to extend the life expectancy of patients with infantile-onset Pompe disease (IOPD), but these patients are not fully cured, and residual symptoms remain.
The purpose of this study is to find out if an investigational new drug combination called ATB200 (cipaglucosidase alfa) and AT2221 (miglustat) can help subjects diagnosed with IOPD and if it is safe.
36 subjects diagnosed with IOPD, under the age of 18 years will take part, at approximately 20 sites worldwide. The study will be conducted in 2 Stages in 2 Cohorts (groups):
Stage 1 will consist of a 104-week treatment period with ATB200 and AT2221
Stage 2 will consist of a long-term extension period. This stage will last until study drug approval or until study termination by the sponsor.
Cohort 1 will enrol subjects who are already being treated with ERT and experiencing a worsening of their disease and who are aged 6 months to < 18 years.
Cohort 2 will enrol subjects who have never received ERT who are aged 0 to < 6 months.
This study entails weekly visits, when each subject will receive AT2221 administered as an oral capsule approximately 1 hour before the start of the intravenous infusion of ATB200, which will be administered over approximately 4 hours beginning with Day 1 through Week 104 during the treatment period and will continue in the long-term extension.REC name
South Central - Hampshire A Research Ethics Committee
REC reference
23/SC/0070
Date of REC Opinion
5 Sep 2023
REC opinion
Further Information Favourable Opinion