A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18 (ROSSELLA)

An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects With Infantile-onset Pompe Disease Aged 0 to < 18 Years

This is a Phase 3, open-label, multicenter study to evaluate the safety, efficacy, PK, PD, and immunogenicity of cipaglucosidase alfa/miglustat treatment in ERT-experienced and ERT-naïve pediatric subjects with IOPD.

Study Overview

• Status: Recruiting
• Conditions: Glycogen Storage Disease Type II Infantile Onset
• Intervention / Treatment: Biological: Cipaglucosidase alfa; Drug: Miglustat

• Study Type: Interventional
• Enrollment (Estimated): 36
• Phase: Phase 3

Expanded Access

Available outside the clinical trial. See expanded access record.

Contacts and Locations

• Study Contact: Name: For Patient; Phone Number: 609-662-2000; Email: patientadvocacy@amicusrx.com
• Study Contact Backup: Name: For Site; Phone Number: 609-662-2000; Email: patientadvocacy@amicusrx.com

Study Locations

• Germany
  • Giessen, Germany, 35392
    • Recruiting
    • Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und Epileptologie
  • Heidelberg, Germany, 69120
    • Recruiting
    • Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS)
  • Höchheim, Germany, 65239
    • Recruiting
    • SphinCS GmbH
  • Münster, Germany, 48149
    • Recruiting
    • Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1
• Italy
  • Naples, Italy, 80131
    • Recruiting
    • AOU Federico II
• Netherlands
  • Rotterdam, Netherlands, 3015 GD
    • Recruiting
    • Erasmus MC, Sophia Kinderziekenhuis
• Taiwan
  • Taipei, Taiwan, 100
    • Withdrawn
    • National Taiwan University Hospital
• United Kingdom
  • London, United Kingdom, WC1N3JH
    • Recruiting
    • Great Ormond Street Hospital for Children NHS foundation trust
• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • Recruiting
      • University of Florida Clinical Research Center
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • The Emory Clinic
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University Early Phase Research Unit
  • Ohio
    • Cincinnati, Ohio, United States, 54229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15224
      • Recruiting
      • UPMC Hospital of Pittsburgh
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • Recruiting
      • University of Utah, Clinical and Translational Sciences Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 17 years (Child)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

Cohort 1:

1. Male or female subjects who are aged 6 months to < 18 years on Day 1
2. Subject must have documentation of IOPD genotype
3. Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
4. Subject must have received ERT for at least 6 months immediately before enrollment. For subjects whose ERT dosage has been modified, the subject must have been on the modified dosage and regimen for at least 3 months before enrollment
5. Subjects aged ≥ 12 to < 18 years must perform one valid 6-minute walk test (6MWT) (≥ 75 meters) at screening; Subjects aged ≥ 5 to < 12 years must perform one valid 6MWT (≥ 40 meters) at screening; Subjects aged 18 months to < 5 years must be ambulatory and assessed to be likely to be able to perform 6MWT (≥ 40 meters) when they turn 5 years old
6. Subjects must have experienced a clinical decline on their current rhGAA dose and frequency

Cohort 2:

1. Male or female subjects who are aged 0 to <6 months at Day 1
2. Subject must have documentation of IOPD genotype
3. Subject must have had hypertrophic cardiomyopathy at the time of diagnosis
4. Subject is ERT-naïve

Long-term Extension (Cohort 1 or Cohort 2):

1. Subject must have, in the opinion of the investigator, benefited from therapy with cipaglucosidase alfa/miglustat during the 104-week primary treatment period with no significant safety concerns.

Exclusion Criteria:

Cohort 1 and Cohort 2, unless specified

1. Subject requires invasive ventilation (eg, tracheostomy)
2. Subject is CRIM negative and has not received prophylactic immunomodulation (Cohort 1); Subject is CRIM negative and will not be receiving prophylactic immunomodulation (Cohort 2)
3. Subject has a history of life-threatening IARs/hypersensitivity (eg, anaphylaxis and severe cutaneous reactions) to ERT (eg, alglucosidase alfa, cipaglucosidase alfa, miglustat) or other iminosugars, or to any of the excipients, where rechallenge was unsuccessful
4. Subject has prior history of illness or condition known to affect motor function
5. Female subject is pregnant (or intends to get pregnant) or breastfeeding at screening (Cohort 1)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects; Pediatric IOPD subjects 6 months to <18 years experiencing clinical decline	Biological: Cipaglucosidase alfa; Sterile lyophilized powder intravenous (IV) infusion; Other Names: ATB200; Drug: Miglustat; 65 mg oral capsules; Other Names: AT2221
Experimental: Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects; Pediatric IOPD subjects <6 months	Biological: Cipaglucosidase alfa; Sterile lyophilized powder intravenous (IV) infusion; Other Names: ATB200; Drug: Miglustat; 65 mg oral capsules; Other Names: AT2221

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Proportion of subjects with infusion-associated reactions (IARs)	104 weeks

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): July 18, 2023
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2027

Study Registration Dates

• First Submitted: March 10, 2021
• First Submitted That Met QC Criteria: March 17, 2021
• First Posted (Actual): March 22, 2021

Study Record Updates

• Last Update Posted (Actual): January 22, 2026
• Last Update Submitted That Met QC Criteria: January 20, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease Type II; Glycogen Storage Disease; Anti-Infective Agents; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Hypoglycemic Agents; Enzyme Inhibitors; Antiviral Agents; Anti-HIV Agents; Anti-Retroviral Agents; Glycoside Hydrolase Inhibitors; miglustat
• Other Study ID Numbers: ATB200-08

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No