Principal Investigator: Nicola Longo
Keywords: Pompe , Lumizyme , GSD II Department: Pediatric Genetics
IRB Number: 00109350
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Completed

Contact Information

Carrie Bailey

Brief Summary

The primary objective of this study is to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in patients who have a confirmed diagnosis of Pompe disease.

A secondary objective of this study is to evaluate and explore the relationship between anti-recombinant human acid α-glucosidase (rhGAA) antibody titers and the PK of alglucosidase alfa.

Study Purpose:

This is a prospective, open-label, multicenter study of patients with Pompe disease who are naïve to treatment with alglucosidase alfa or who have been previously treated with alglucosidase alfa for at least 6 months. The patient or the patient’s legal guardian(s) must provide informed consent prior to performing any protocol-related procedure. Eligible patients will receive one intravenous (IV) infusion of alglucosidase alfa of 20 mg/kg of body weight.

Pharmacokinetic and safety assessments will be performed at the scheduled treatment visit. Adverse events (AE) and concomitant medications/therapies will be monitored continuously throughout the study. Patients who are withdrawn from the study will not be replaced (ie, a patient’s study number will not be reused); however, additional patients may be enrolled to offset patient dropouts.


Inclusion Criteria

Inclusion Criteria:

  1. The patient and/or the patient’s parent/legal guardian is willing and able to provide signed informed consent.
  2. The patient has a confirmed GAA enzyme deficiency from skin, blood, or muscle tissue and/or 2 confirmed GAA gene mutations.
    1. Infant and toddler Pompe disease patients can be included in the study only under condition (minimal body weight) that the trial-related blood loss (including any losses in the maneuver) will not exceed 3% of the total blood volume during a period of 4 weeks and will not exceed 1% at any single time. 
  3. The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin) at screening. Note: All female patients of childbearing potential and sexually mature males must agree to use a medically accepted method of contraception throughout the study.
  4. For patients previously treated with alglucosidase alfa the patient has received alglucosidase alfa for at least 6 months.

Exclusion Criteria

1. The patient is participating in another clinical study using an investigational product.
2. The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.