Clinical trial NCT05164055: Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)
Official title: A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in France
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE4
Conditions: Glycogen Storage Disease Type II
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2021-12-20
Enrollment: 17
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to enzyme replacement therapy (ERT) with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until reimbursement of avalglucosidase alfa in France or until December 2025, whichever comes first.

- Study visit frequency: every 2 weeks

Detailed description: Treatment duration approximately 3 years and 6 months: until reimbursement of avalglucosidase alfa in France or until December 2025, whichever comes first

Eligibility criteria: Inclusion Criteria:

* 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.
* 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.
* The patient (and patient's legal guardian if patient is \<18 years of age) must have the ability to comply with the clinical protocol.
* The patient, if female and of childbearing potential, must have a negative pregnancy test result \[urine beta-human chorionic gonadotropin (β-HCG)\] at enrollment.
* 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:

* Patient with life-threatening hypersensitivity (anaphylactic reaction) to one of avalglucosidase alfa's excipients.
* Patient who permanently discontinued avalglucosidase alfa in a previous clinical study
* Pregnant or breastfeeding female patient
* The patient is concurrently participating in another clinical study of investigational treatment.
* The patient, in opinion of the Investigator, is unable to comply with the requirements of the study.
* 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.
* Individuals accommodated in an institution because of regulatory or legal order; prisoners, or patients who are legally institutionalized.

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Primary outcomes:
measure: Number of participants with adverse events (AE), treatment-emergent adverse events (TEAE), including infusion associated reactions (IAR) and death
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months
Secondary outcomes:
measure: 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
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Assessment of quick motor function test (QMFT) for LOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Pulmonary function tests (forced vital capacity [FVC] (% predicted), maximum expiratory pressure/maximum inspiratory pressure) in upright and supine positions for LOPD and IOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Quality of life evaluation: Pompe Disease Symptom Scale (PDSS) for LOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Quality of life evaluation: Pompe Disease Impact Scale (PDIS) for LOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Pompe Pediatric Evaluation of Disability Inventory (Pompe-PEDI) score for IOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: PedsQL score for IOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
measure: Left Ventricular Mass Index (LVMI) Z-score in IOPD participants
timeFrame: From study enrolment to the final study visit/telephone contact, up to 3 years and 6 months (at enrolment and every 6 months)
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: Investigational Site Number : 2500004
city: Brest
country: France
facility: Investigational Site Number : 2500005
city: Clermont-Ferrand
country: France
facility: Investigational Site Number : 2500008
city: Lille
country: France
facility: Investigational Site Number : 2500009
city: Lyon
country: France
facility: Investigational Site Number : 2500003
city: Marseille
country: France
facility: Investigational Site Number : 2500001
city: Nantes
country: France
facility: Investigational Site Number : 2500006
city: Nice
country: France
facility: Investigational Site Number : 2500007
city: Paris
country: France
facility: Investigational Site Number : 2500002
city: Paris
country: France
facility: Investigational Site Number : 2500010
city: Tours
country: France
facility: Investigational Site Number : 2500011
Study officials:
affiliation: Sanofi
name: Clinical Sciences & Operations
role: STUDY_DIRECTOR
References: