Official Title
Expanded Use Of Recombinant Human Acid Alpha-Glucosidase/N-butyl-deoxynojirimycin (ATB200/AT2221) For Patients With Infantile-Onset Pompe Disease
Brief Summary

This is an expanded access program (EAP) for eligible participants designed to provideaccess to ATB200/AT2221.

Detailed Description

This program is being offered on a patient by patient basis.

Intermediate-size Population
Pompe Disease Infantile-Onset

Biological: ATB200

Participants received ATB200 co-administered with AT2221 capsule (Miglustat)

Drug: AT2221

Participants received ATB200 co-administered with AT2221 capsule (Miglustat)

Eligibility Criteria

Inclusion Criteria:

1. Patient is male or female and 0 to < 18 years old.

2. Patient has a diagnosis of Pompe disease, based on documentation of GAA genotyping
demonstrating variants associated with IOPD.

3. Patient does not currently qualify for or is unable to enroll (eg, due to location,
etc) in any commercial drug-sponsored ongoing clinical trial.

4. Patient is currently being treated with an approved ERT and is declining (eg,
worsening in motor function, respiratory function/parameters, cardiac function, etc)
based on treating physician's clinical judgement.

5. The patient's legal guardian or representative has given informed consent (and
assent when age appropriate for regional requirements) to treatment prior to
administering ATB200/AT2221 in a manner consistent with all national requirements.

6. If of reproductive potential and sexually active, female subjects agree to use a
highly effective method of contraception throughout the duration of the treatment
and for up to 90 days after their last dose of ATB200/AT2221.

Exclusion Criteria:

1. Patient has a hypersensitivity to any of the excipients in ATB200, alglucosidase
alfa, or AT2221

2. Patient has a medical or any other extenuating condition or circumstance that may,
in the opinion of the investigator and/or Amicus, pose an undue safety risk to the

3. Concomitant use of miglitol (eg, Glyset), non-AT2221 form of miglustat (eg,
Zavesca), acarbose (eg, Precose or Glucobay), voglibose (eg, Volix, Vocarb,or

Eligibility Gender
Eligibility Age
Minimum: 0 Years ~ Maximum: 17 Years
United States

UCSF Benioff Children's Hospital Oakland
Oakland, California, United States

UF Health Shands Hospital
Gainesville, Florida, United States

University Hospital of Padova
Padova, Italy

National Taiwan University Hospital
Taipei, Taiwan


For Site

For Patient

Amicus Therapeutics
NCT Number
Expanded Access
Compassionate Use
MeSH Terms
Glycogen Storage Disease Type II