## Protocol Section
### Identification Module
**NCT ID:** NCT04848779

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

**Official Title:** A Prospective Observational Study to Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

#### Organization Study ID Info
**ID:** OBS17003
#### Organization
**Class:** INDUSTRY
**Full Name:** Sanofi
#### Secondary ID Infos
**Domain:** ICTRP
**ID:** U1111-1266-4848
**Type:** REGISTRY
### Status Module
#### Completion Date
**Date:** 2026-03-30

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2024-02-09

**Type:** ACTUAL

**Last Update Submit Date:** 2024-02-08

**Overall Status:** RECRUITING

#### Primary Completion Date
**Date:** 2026-03-30

**Type:** ESTIMATED

#### Start Date
**Date:** 2021-06-10

**Type:** ACTUAL

**Status Verified Date:** 2024-02

#### Study First Post Date
**Date:** 2021-04-19
**Type:** ACTUAL
**Study First Submit Date:** 2021-03-29
**Study First Submit QC Date:** 2021-04-13
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** INDUSTRY

**Name:** Sanofi

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Is FDA Regulated Device:** False

**Is FDA Regulated Drug:** True

**Oversight Has DMC:** False

### Description Module

**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.

**Detailed Description:** The planned duration of observation for each participant will be 104 weeks after enrollment, to determine secondary outcomes at 18 months (approximately 78 weeks) of age.

### Conditions Module

**Conditions:**

- Glycogen Storage Disease Type II

### Design Module

#### Design Info

**Observational Model:** COHORT

**Time Perspective:** PROSPECTIVE

#### Enrollment Info

**Count:** 16

**Type:** ESTIMATED

**Patient Registry:** True

**Study Type:** OBSERVATIONAL

**Target Duration:** 104 Weeks

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Drug: Alglucosidase alfa GZ419829

**Label:** Cohort 1

### Interventions

#### Intervention 1

**Arm Group Labels:**

- Cohort 1

**Description:** Pharmaceutical form: Lyophilized powder for solution

Route of administration: intravenous

**Name:** Alglucosidase alfa GZ419829

**Other Names:**

- Myozyme

**Type:** DRUG

### Outcomes Module

#### Primary Outcomes

**Measure:** Proportion of participants alive and free of invasive ventilation at Week 52 of treatment

**Time Frame:** Week 52

#### Secondary Outcomes

**Measure:** Proportion of participants alive and free of invasive ventilation at 12 and 18 months of age

**Time Frame:** at 12 and 18 months of age

**Measure:** Proportion of participants alive at Week 52 of treatment

**Time Frame:** Week 52

**Measure:** Proportion of participants alive at 12 months and 18 months of age

**Time Frame:** at 12 and 18 months of age

**Measure:** Proportion of participants free of ventilator use and free of supplemental oxygen use at Week 52

**Time Frame:** Week 52

**Measure:** Change from baseline to Week 52 in LVM Z score

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in AIMS score

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in body length Z-scores

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in body weight Z-scores

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in head circumference Z-scores

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in body length percentiles

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in body weight percentiles

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in head circumference percentiles

**Time Frame:** from baseline to Week 52

**Measure:** Change from baseline to Week 52 in urinary Hex4

**Time Frame:** from baseline to Week 52

**Measure:** Number of participants experiencing at least 1 treatment-emergent adverse events (TEAE), including infusion-associated reactions (IAR)

**Time Frame:** From inclusion for 104 weeks

**Measure:** Number of participants with abnormalities in physical examinations

**Time Frame:** From inclusion for 104 weeks

**Measure:** Number of participants with abnormalities in clinical laboratory results

**Time Frame:** From inclusion for 104 weeks

**Measure:** Number of participants with abnormalities in vital signs measurements

**Time Frame:** From inclusion for 104 weeks

**Measure:** Number of participants with abnormalities in 12-lead electrocardiogram (ECG)

**Time Frame:** From inclusion for 104 weeks

**Measure:** Incidence of treatment-emergent antidrug antibodies (ADA)

**Time Frame:** From inclusion for 104 weeks

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* 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).

Exclusion Criteria:

* 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.

**Maximum Age:** 6 Months

**Minimum Age:** 0 Days

**Sampling Method:** PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

**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.

### Contacts Locations Module

#### Central Contacts

**Contact 1:**

**Email:** Contact-Us@sanofi.com

**Name:** Trial Transparency email recommended (Toll free number for US & Canada)

**Phone:** 800-633-1610

**Phone Ext:** option 6

**Role:** CONTACT

#### Locations

**Location 1:**

**City:** Valhalla

**Country:** United States

**Facility:** Boston Children's Health Physicians Site Number : 8400002

**State:** New York

**Status:** RECRUITING

**Zip:** 10595

**Location 2:**

**City:** Durham

**Country:** United States

**Facility:** Duke University Medical Center Site Number : 8400004

**State:** North Carolina

**Status:** RECRUITING

**Zip:** 27710

**Location 3:**

**City:** Cincinnati

**Country:** United States

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

**State:** Ohio

**Status:** RECRUITING

**Zip:** 45229-3039

**Location 4:**

**City:** Seattle

**Country:** United States

**Facility:** Seattle Childrens Hospital and Regional Medical Center Site Number : 8400003

**State:** Washington

**Status:** RECRUITING

**Zip:** 98040

**Location 5:**

**City:** Leuven

**Country:** Belgium

**Facility:** Investigational Site Number : 0560001

**Status:** RECRUITING

**Zip:** 3000

**Location 6:**

**City:** Tours

**Country:** France

**Facility:** Investigational Site Number : 2500001

**Status:** RECRUITING

**Zip:** 37044

**Location 7:**

**City:** Gießen

**Country:** Germany

**Facility:** Investigational Site Number : 2760001

**Status:** RECRUITING

**Zip:** 35392

**Location 8:**

**City:** Monza

**Country:** Italy

**Facility:** Investigational Site Number : 3800002

**State:** Monza E Brianza

**Status:** RECRUITING

**Zip:** 20052

**Location 9:**

**City:** Firenze

**Country:** Italy

**Facility:** Investigational Site Number : 3800001

**Status:** RECRUITING

**Zip:** 50139

**Location 10:**

**City:** Rotterdam

**Country:** Netherlands

**Facility:** Investigational Site Number : 5280001

**Status:** RECRUITING

**Zip:** 3015 GD

**Location 11:**

**City:** Esplugues de Llobregat

**Country:** Spain

**Facility:** Investigational Site Number : 7240001

**State:** Catalunya [Cataluña]

**Status:** RECRUITING

**Zip:** 08950

**Location 12:**

**City:** Taipei

**Country:** Taiwan

**Facility:** Investigational Site Number : 1580001

**Status:** RECRUITING

**Zip:** 100

**Location 13:**

**City:** London

**Country:** United Kingdom

**Facility:** Investigational Site Number : 8260001

**State:** London, City Of

**Status:** RECRUITING

**Zip:** WC1N 3JH

**Location 14:**

**City:** Manchester

**Country:** United Kingdom

**Facility:** Investigational Site Number : 8260002

**Status:** RECRUITING

**Zip:** M13 9WL

#### Overall Officials

**Official 1:**

**Affiliation:** Sanofi

**Name:** Clinical Sciences & Operations

**Role:** STUDY_DIRECTOR

### IPD Sharing Statement Module

**Description:** Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org

**IPD Sharing:** YES

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000020140

- Term: Lysosomal Storage Diseases, Nervous System

- ID: D000020739

- Term: Brain Diseases, Metabolic, Inborn

- ID: D000001928

- Term: Brain Diseases, Metabolic

- ID: D000001927

- Term: Brain Diseases

- ID: D000002493

- Term: Central Nervous System Diseases

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000008661

- Term: Metabolism, Inborn Errors

- ID: D000030342

- Term: Genetic Diseases, Inborn

- ID: D000002239

- Term: Carbohydrate Metabolism, Inborn Errors

- ID: D000016464

- Term: Lysosomal Storage Diseases

- ID: D000008659

- Term: Metabolic Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: All

- Name: All Conditions

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M9114

- Name: Glycogen Storage Disease

- Relevance: HIGH

- As Found: Glycogen Storage Disease

- ID: M9115

- Name: Glycogen Storage Disease Type II

- Relevance: HIGH

- As Found: Glycogen Storage Disease Type II

- ID: M18871

- Name: Lysosomal Storage Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5204

- Name: Brain Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5205

- Name: Brain Diseases, Metabolic

- Relevance: LOW

- As Found: Unknown

- ID: M22498

- Name: Brain Diseases, Metabolic, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M5742

- Name: Central Nervous System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M11641

- Name: Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M5498

- Name: Carbohydrate Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M11639

- Name: Metabolic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: T2562

- Name: Glycogen Storage Disease Type 2

- Relevance: HIGH

- As Found: Glycogen Storage Disease Type II

### Condition Browse Module - Meshes

- ID: D000006009

- Term: Glycogen Storage Disease Type II

- ID: D000006008

- Term: Glycogen Storage Disease

### Intervention Browse Module - Browse Branches

- Abbrev: PhSol

- Name: Pharmaceutical Solutions

- Abbrev: All

- Name: All Drugs and Chemicals

### Intervention Browse Module - Browse Leaves

- ID: M21860

- Name: Pharmaceutical Solutions

- Relevance: LOW

- As Found: Unknown

### Misc Info Module

- Version Holder: 2024-05-24
