A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

NCT04848779 | Active Not Recruiting FDA Drug

• 2 other identifiers: OBS17003U1111-1266-4848
• Study Type: observational
• Target: 16
• Locations: 9 countries
• Sites: 15

Brief Summary

Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment. Secondary Objectives:

• To describe the effect of routine practice with alglucosidase alfa on invasive ventilation-free survival and survival at 12 and 18 months of age, as well as on change in left ventricular mass (LVM) Z score, Alberta Infant Motor Scale (AIMS) score, body weight, body length, and head circumference Z scores, and urinary glucose tetrasaccharide (Hex4), at Week 52 of treatment.
• To describe the safety, tolerability, and immunogenicity of alglucosidase alfa in the routine practice of IOPD treatment.

Conditions

Glycogen Storage Disease Type II

Outcome Measures

Primary Outcomes (1)

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

  Week 52

Secondary Outcomes (19)

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

  at 12 and 18 months of age

• Proportion of participants alive at Week 52 of treatment

  Week 52

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

  at 12 and 18 months of age

• Proportion of participants free of ventilator use and free of supplemental oxygen use at Week 52

  Week 52

• Change from baseline to Week 52 in LVM Z score

  from baseline to Week 52

Study Arms (1)

Cohort 1

Drug: Alglucosidase alfa GZ419829

Interventions

Alglucosidase alfa GZ419829 DRUG

Pharmaceutical form: Lyophilized powder for solution Route of administration: intravenous

Also known as: Myozyme

Cohort 1

Eligibility Criteria

• Age: 0 Days - 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Confirmly diagnosed IOPD patients 6 months or less of age (corrected for gestational age if needed), treated or planned to be treated with alglucosidase alfa, at the time of study inclusion.

You may qualify if:

• At the time of informed consent, participants must be ≤6 months of age, corrected for gestation if necessary. Gestational age \<40 weeks will be adjusted to a full-term gestational age of 40 weeks.
• Participants must have alglucosidase alfa enzyme replacement therapy (ERT) planned or initiated for IOPD treatment irrespective of study participation, according to the treating physician's decision regarding participants' routine disease management.
• Participants must have available and accessible medical records from the time of IOPD diagnosis and from subsequent follow-up.
• Participants must have a confirmed diagnosis of IOPD, defined as presence of 2 pathogenic acid alpha glucosidase (GAA) variants and documented GAA deficiency in blood (dried blood spot \[DBS\] accepted), skin, or muscle tissue, or presence of 1 pathogenic GAA variant and documented GAA deficiency in blood, skin, or muscle tissue from separate samples (either from 2 different tissues or from the same tissue but at 2 different sampling dates.) (DBS and leukocytes are acceptable as 2 different samples from blood).
• Participants must have established cross-reacting immunologic material (CRIM) status available prior to enrollment. CRIM status may be provided by historical CRIM testing results or prediction of CRIM status based on genotyping performed at a Clinical Laboratory Improvement Amendments (CLIA) or other appropriately certified genetic laboratory.
• Participants must have cardiomyopathy at the time of diagnosis (LVMI equivalent to mean age-specific LVMI):
• LVMI +1 standard deviation (SD) in participants diagnosed by newborn or sibling screening,
• LVMI +2 SD in participants diagnosed by clinical evaluation.
• Participants must have informed consent provided by parent(s)/legally acceptable representatives (LARs).

You may not qualify if:

• Participants with respiratory insufficiency, defined as:
• Oxygen saturation \<90% on room air as determined by pulse oximetry,
• Venous partial pressure of carbon dioxide (pCO2) \>55 mmHg or arterial pCO2 \>40 mmHg on room air,
• Use of invasive (with intubation or tracheostomy) or noninvasive (no intubation or tracheostomy) ventilation at enrollment, for participants not having started ERT at enrollment,
• Use of invasive or noninvasive ventilation at the time of ERT initiation, for participants having started ERT before enrollment.
• Participants with major congenital abnormality including heart defect, neural tube defect, or Down syndrome that, in the opinion of the investigator, would preclude participation in the study or potentially decrease survival.
• Participants with clinically significant organic disease other than signs/symptoms related to Pompe disease, including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or circumstance that, in the opinion of the investigator, would preclude participation or potentially decrease survival.
• Previous or ongoing treatment in any clinical trial of, or managed access program for, avalglucosidase alfa or any other Pompe disease-specific therapy.
• 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 (15)

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

Le Bonheur Children's Hospital- Site Number : 8400005

Memphis, Tennessee, 38103, 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 : 2500001

Tours, 37000, France

Location

Investigational Site Number : 2760001

Giessen, 35392, Germany

Location

Investigational Site Number : 3800002

Monza, Monza E Brianza, 20052, Italy

Location

Investigational Site Number : 3800001

Florence, 50139, 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

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

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: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 104 Weeks
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 29, 2021
• First Posted: April 19, 2021
• Study Start: June 10, 2021
• Primary Completion (Estimated): October 28, 2026
• Study Completion (Estimated): October 28, 2026
• Last Updated: May 13, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will share

Locations

US (5); BE (1); NL (1); GB (2); IT (2); ES (1); TW (1); DE (1); FR (1)