Study type

Study type

Non-interventional study
Non-interventional study

Non-interventional study design

Cohort
Study drug and medical condition

Name of medicine

POMBILITI
OPFOLDA
Population studied

Age groups

Preterm newborn infants (0 – 27 days)
Term newborn infants (0 – 27 days)
Infants and toddlers (28 days – 23 months)
Children (2 to < 12 years)
Adolescents (12 to < 18 years)
Adults (18 to < 46 years)
Adults (46 to < 65 years)
Adults (65 to < 75 years)
Adults (75 to < 85 years)
Adults (85 years and over)

Estimated number of subjects

500
Study design details

Main study objective

- To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of AEs/SAEs occurring in Pompe disease patients - To evaluate the long-term real-world effectiveness - To evaluate the long-term real-world impact of Pompe disease treatments on QOL and PROs - To describe the natural history of untreated Pompe disease

Data analysis plan

No formal hypotheses will be tested in this registry. Demographics and medical history (including but not limited to disease stage, time since diagnosis, prior and concomitant medication use, prior treatment with ERTs, and co-morbidities) will be summarized using descriptive statistics, with number and percent for categorical variables, and n, mean, SD, SE of the mean, median, minimum, and maximum for continuous variables. Quantitative analyses may include incidence rates of events, reasons for dropout and discontinuation, time-to-event profiles, and descriptions of clinical outcomes such as impact on physical function, HRQOL, and the occurrence of AEs, including but not limited to IARs, hypersensitivity reactions (including anaphylaxis), immune complex related reactions, and medication errors in the home infusion setting. Demographics and medical history will also be summarized using descriptive statistics on different subgroups.