Avalglucosidase alfa for Glycogen storage disease type II (Pompe disease)

Inclusion criteria

• {"criterion_text":"- Patient with LOPD or IOPD who has previously completed Study EFC14028, LTS13769, or ACT14132 in France, and reimbursement for avalglucosidase alfa is not yet granted in France.\n- The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so.\n- The patient (and patient's legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol.\n- The patient, if female and of childbearing potential, must have a negative pregnancy test result [urine beta-human chorionic gonadotropin (β-HCG)] at enrollment.\n- Sexually active female patients of childbearing potential and male patients are required to practice true abstinence in line with their preferred and usual lifestyle or to use 2 acceptable effective methods of contraception."}

Exclusion criteria

• {"criterion_text":"- Patient with life-threatening hypersensitivity (anaphylactic reaction) to one of avalglucosidase alfa's excipients.\n- Patient who permanently discontinued avalglucosidase alfa in a previous clinical study\n- Pregnant or breastfeeding female patient\n- The patient is concurrently participating in another clinical study of investigational treatment\n- The patient, in opinion of the Investigator, is unable to comply with the requirements of the study\n- The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatobiliary, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.\n- Individuals accommodated in an institution because of regulatory or legal order; prisoners, or patients who are legally institutionalized."}

Primary endpoints

• {"endpoint_text":"- Number of adverse events (AE), treatmentemergent adverse events (TEAE), including infusion associated reactions (IAR) and death","definition_or_measurement_approach":""}

Secondary endpoints

• {"endpoint_text":"- Assessment of six-minute walk test (distance in meters and % predicted value) for late-onset Pompe disease (LOPD) and infantile-onset Pompe disease (IOPD) participants","definition_or_measurement_approach":"Six-minute walk test measured as distance in meters and percent predicted value"}
• {"endpoint_text":"- Assessment of quick motor function test (QMFT) for LOPD participants","definition_or_measurement_approach":"Quick Motor Function Test (QMFT) score assessment for LOPD participants"}
• {"endpoint_text":"- Pulmonary function tests (forced vital capacity [FVC] (% predicted), maximum expiratory pressure/maximum inspiratory pressure) in upright and supine positions for LOPD and IOPD participants","definition_or_measurement_approach":"Pulmonary function tests including FVC (% predicted) and maximum expiratory/inspiratory pressures in upright and supine positions"}
• {"endpoint_text":"- Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants","definition_or_measurement_approach":"Health-related quality of life measured using SF-12 questionnaire"}
• {"endpoint_text":"- Quality of life evaluation: Pompe Disease Symptom Scale (PDSS) for LOPD participants","definition_or_measurement_approach":"Pompe Disease Symptom Scale (PDSS) score assessment for LOPD participants"}
• {"endpoint_text":"- Quality of life evaluation: Pompe Disease Impact Scale (PDIS) for LOPD participants","definition_or_measurement_approach":"Pompe Disease Impact Scale (PDIS) score assessment for LOPD participants"}
• {"endpoint_text":"- Pompe Pediatric Evaluation of Disability Inventory (Pompe-PEDI) score for IOPD participants","definition_or_measurement_approach":"Pompe-PEDI score assessment for IOPD participants"}
• {"endpoint_text":"- PedsQL score for IOPD participants","definition_or_measurement_approach":"PedsQL (Pediatric Quality of Life Inventory) score assessment for IOPD participants"}
• {"endpoint_text":"- Left Ventricular Mass Index (LVMI) Z-score in IOPD participants","definition_or_measurement_approach":"Left Ventricular Mass Index (LVMI) expressed as Z-score for IOPD participants"}

France

Earliest CTIS Part Ii Submission Date

12-06-2024

Latest Decision Or Authorization Date

27-10-2025

Processing Time Days

502

Number Of Sites

11

Number Of Participants

18

Primary sponsor

Full Name

Sanofi Winthrop Industrie

Organisation Type

Pharmaceutical company

Country Of Registered Address

France

Third parties

• {"country":"France","full_name":"Unite Paramedicale Ambulatoire De Recherche Clinique","duties_or_roles":"Home nursing (product infusion)","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United States","full_name":"Labcorp Bedford LLC","duties_or_roles":"","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United Kingdom","full_name":"ESMS Global Limited","duties_or_roles":"Other, Centralized 24-Hour Emergency System: eSMS","organisation_type":"Pharmaceutical company"}
• {"country":"France","full_name":"ICTA Project Management En Abrege ICTA P.M.","duties_or_roles":"","organisation_type":"Pharmaceutical company"}