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

Phase 3

Recruiting

• Conditions: Glycogen Storage Disease Type II Infantile Onset
• Interventions: Biological: Cipaglucosidase alfa; Drug: Miglustat

• Registration Number: NCT04808505
• Lead Sponsor: Amicus Therapeutics

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-03-10
• Study First Submitted QC: 2021-03-17
• Study First Posted: 2021-03-22
• Study Start: 2023-07-18
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-17
• Last Update Posted: 2025-03-18
• Primary Completion: 2027-04
• Study Completion: 2027-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 36

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects	Cipaglucosidase alfa	Pediatric IOPD subjects \<6 months
Cohort 2: Cipaglucosidase Alfa/Miglustat in ERT-naïve pediatric IOPD subjects	Miglustat	Pediatric IOPD subjects \<6 months
Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects	Cipaglucosidase alfa	Pediatric IOPD subjects 6 months to \<18 years experiencing clinical decline
Cohort 1: Cipaglucosidase Alfa/Miglustat in ERT-experienced pediatric IOPD subjects	Miglustat	Pediatric IOPD subjects 6 months to \<18 years experiencing clinical decline

Primary Outcome Measures

Name	Time	Method
Proportion of subjects with infusion-associated reactions (IARs)	104 weeks

Trial Locations

Locations (17)

University of Florida Clinical Research Center; 🇺🇸 Gainesville, Florida, United States

The Emory Clinic; 🇺🇸 Atlanta, Georgia, United States

Duke University Early Phase Research Unit; 🇺🇸 Durham, North Carolina, United States

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

UPMC Hospital of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States

University of Utah, Clinical and Translational Sciences Institute; 🇺🇸 Salt Lake City, Utah, United States

Hôpital Raymond Poincaré, Neurologie et réanimation pédiatriques; 🇫🇷 Garches, France

Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und Epileptologie; 🇩🇪 Gießen, Germany

Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS); 🇩🇪 Heidelberg, Germany

SphinCS GmbH; 🇩🇪 Hochheim, Germany

Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1; 🇩🇪 Münster, Germany

AOU Federico II; 🇮🇹 Naples, Italy

Azienda Ospedale Inherited Metabolic Disease Department; 🇮🇹 Padova, Italy

A.O.U. Citta della Salute e della Scienza di Torino, Presidio Ospedale Infantile Regina Margherita, S.C. Neuropsichiatria Infantile U; 🇮🇹 Torino, Italy

Erasmus MC, Sophia Kinderziekenhuis; 🇳🇱 Rotterdam, Netherlands

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan

Great Ormond Street Hospital for Children NHS Foundation Trust; 🇬🇧 London, United Kingdom