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

NCT04910776 | Active Not Recruiting Phase 3 DMC FDA Drug

• 4 other identifiers: EFC14462U1111-1246-66452024-513859-332020-004686-39
• Study Type: interventional
• Target: 17
• Locations: 9 countries
• Sites: 16

Brief Summary

This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD. Study details include:

• Study duration: Screening - up to 4 weeks;
• Primary Analysis Period (PAP) - 52 weeks;
• Extended Treatment Period (ETP) - 52 weeks;
• Extended Long term Treatment Period (ELTP) - 104 weeks; 4-week follow-up period for a total study duration - up to 4.08 years.
• Treatment duration: Up to 4 years
• Visit frequency: every other week and potentially every week

Conditions

Glycogen Storage Disease Type II

Outcome Measures

Primary Outcomes (1)

• Proportion of participants who are alive and free of invasive ventilation at Week 52

  Week 52

Secondary Outcomes (21)

• Proportion of participants who are alive and free of invasive ventilation at 12 and 18 months of age

  at 12 and 18 months of age

• Proportion of participants who are alive at Week 52

  Week 52

• Proportion of participants who are alive at 12 and 18 months of age

  at 12 and 18 months of age

• Proportion of participants who are free of ventilator use (invasive and non-invasive separate and combined) at Week 52

  Week 52

• Proportion of participants who are free of supplemental oxygen use at Week 52

  Week 52

Study Arms (1)

Avalglucosidase alfa

EXPERIMENTAL

Administered intravenously every 2 weeks

Drug: avalglucosidase alfa

Interventions

avalglucosidase alfa DRUG

Sterile lyophilized powder intravenous (IV) infusion

Also known as: GZ402666

Avalglucosidase alfa

Eligibility Criteria

• Age: 0 Days - 12 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• Participants with symptoms of respiratory insufficiency, including any ventilation use (invasive or noninvasive) at the time of enrollment.
• Participants with major congenital abnormality.
• Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease).
• 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.
• 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.

Sponsors & Collaborators

• Sanofi: lead

Study Sites (16)

Stanford Hospital- Site Number : 8400006

Stanford, California, 94305, United States

Location

Children's Hospitals and Clinics of Minnesota- Site Number : 8400008

Minneapolis, Minnesota, 55404, United States

Location

Advanced Medical Genetics- Site Number : 8400002

Hawthorne, New York, 10532, United States

Location

Duke University Medical Center- Site Number : 8400004

Durham, North Carolina, 27710, United States

Location

Cincinnati Children's Hospital Medical Center- Site Number : 8400001

Cincinnati, Ohio, 45229, United States

Location

Seattle Children's Hospital- Site Number : 8400003

Seattle, Washington, 98105, United States

Location

Investigational Site Number : 0560001

Leuven, 3000, Belgium

Location

Investigational Site Number : 1560002

Qingdao, 266034, China

Location

Investigational Site Number : 1560001

Shanghai, 200120, China

Location

Investigational Site Number : 2760001

Bad Oeynhausen, 35392, Germany

Location

Investigational Site Number : 3800002

Monza, Lombardy, 20052, Italy

Location

Investigational Site Number : 5280001

Rotterdam, 3015 CE, Netherlands

Location

Investigational Site Number : 7240001

Esplugues de Llobregat, Catalunya [Cataluña], 08950, Spain

Location

Investigational Site Number : 1580001

Taipei, 100, Taiwan

Location

Investigational Site Number : 8260001

London, London, City of, WC1N 3JH, United Kingdom

Location

Investigational Site Number : 8260002

Manchester, M13 9WL, United Kingdom

Location

Related Links

• EFC14462 Plain Language Results Summary

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Clinical Sciences & Operations

  Sanofi

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 25, 2021
• First Posted: June 2, 2021
• Study Start: September 1, 2021
• Primary Completion: March 2, 2026
• Study Completion (Estimated): August 10, 2027
• Last Updated: April 8, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share

Locations

CN (2); NL (1); IT (1); DE (1); ES (1); BE (1); US (6); GB (2); TW (1)