Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

Korábbi kezelés

• Participant received any Pompe disease specific treatment, eg enzyme-replacement gene therapy (ERT).
• Participant who has previously been treated in any clinical trial of avalglucosidase alfa.

Más betegség

• Participants with symptoms of respiratory insufficiency, including any ventilation use (invasive or noninvasive) at the time of enrollment.
• Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease).
• Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures.
  • The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Egyéb

• Participants with major congenital abnormality.

• Participants must have confirmed diagnosis of infantile-onset Pompe disease defined as: the presence of 2 lysosomal acid α-glucosidase (GAA) pathogenic variants and a documented GAA deficiency from blood, skin, or muscle tissue; or the presence of 1 GAA pathogenic variant and a documented GAA deficiency from blood, skin and muscle tissue in 2 separate samples (from either 2 different tissues or from the same tissue but at 2 different sampling dates).
• Participants must have established cross-reactive immunological material (CRIM) status available prior to enrollment.
• Participants must have cardiomyopathy at the time of diagnosis: ie, left ventricular mass index (LVMI) equivalent to mean age specific LVMI
  • +1 standard deviation for participants diagnosed by newborn screening or sibling screening;
  • +2 standard deviation for participants diagnosed by clinical evaluation.
• Parents or legally authorized representative(s) must be capable of giving signed informed consent.