A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Pa… (NCT04848779) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
United States16 participantsStarted 2021-06-10
Plain-language summary
Primary Objective:
To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
Secondary Objectives:
* To describe the effect of routine practice with alglucosidase alfa on invasive ventilation-free survival and survival at 12 and 18 months of age, as well as on change in left ventricular mass (LVM) Z score, Alberta Infant Motor Scale (AIMS) score, body weight, body length, and head circumference Z scores, and urinary glucose tetrasaccharide (Hex4), at Week 52 of treatment.
* To describe the safety, tolerability, and immunogenicity of alglucosidase alfa in the routine practice of IOPD treatment.
Who can participate
Age range0 Days – 6 Months
SexALL
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Inclusion Criteria:
* At the time of informed consent, participants must be ≤6 months of age, corrected for gestation if necessary. Gestational age \<40 weeks will be adjusted to a full-term gestational age of 40 weeks.
* Participants must have alglucosidase alfa enzyme replacement therapy (ERT) planned or initiated for IOPD treatment irrespective of study participation, according to the treating physician's decision regarding participants' routine disease management.
* Participants must have available and accessible medical records from the time of IOPD diagnosis and from subsequent follow-up.
* Participants must have a confirmed diagnosis of IOPD, defined as presence of 2 pathogenic acid alpha glucosidase (GAA) variants and documented GAA deficiency in blood (dried blood spot \[DBS\] accepted), skin, or muscle tissue, or presence of 1 pathogenic GAA variant and documented GAA deficiency in blood, skin, or muscle tissue from separate samples (either from 2 different tissues or from the same tissue but at 2 different sampling dates.) (DBS and leukocytes are acceptable as 2 different samples from blood).
* Participants must have established cross-reacting immunologic material (CRIM) status available prior to enrollment. CRIM status may be provided by historical CRIM testing results or prediction of CRIM status based on genotyping performed at a Clinical Laboratory Improvement Amendments (CLIA) or other appropriately certified genetic laboratory.
* Participants must have cardi…
What they're measuring
1
Proportion of participants alive and free of invasive ventilation at Week 52 of treatment