Principal Investigator: Nicola Longo
Keywords: Lumizyme , Pompe Department: Pediatric Genetics
IRB Number: 00075237
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Completed

Contact Information

Carrie Bailey

Brief Summary

The objectives of this safety sub-registry are to collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune-mediated reactions following treatment with alglucosidase alfa. This Safety Sub-Registry also will assess:
1. the symptoms, severity, outcome, and occurrence of those adverse events (AEs; anaphylaxis, severe allergic reactions, and signals of severe cutaneous and systemic immune mediated reactions);
2. the effect of antibody responses (both timing and pattern of responses) and cross-reacting immunologic material (CRIM) status (in patients with age at symptom onset less than or equal to 12 months only) on the occurrence of such AEs.

Inclusion Criteria

Patients must meet all of the following criteria to be eligible for inclusion in this sub-registry:
• be enrolled in the Pompe Registry;
•provide a signed Patient Information and Authorization form;
•have a confirmed diagnosis of Pompe disease (confirmation of diagnosis is defined as documented GAA enzyme deficiency from any tissue source and/or documentation of 2 GAA gene mutations);
• be naïve to treatment with alglucosidase alfa (4000-L), plan to be treated with alglucosidase alfa, or have been treated with alglucosidase alfa.

Exclusion Criteria

Patients will be excluded if they have received an investigational drug (excluding alglucosidase alfa) within 30 days prior to signing a sub-registry Patient Information and Authorization form, or if they are taking or plan to take any investigational product while enrolled in the sub-registry.