Evaluating a new treatment for infantile onset glycogen storage disease

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 study is testing a new treatment for infants and young children with infantile onset Pompe disease to see if it is safe and effective.

Quick facts

• Phase: Phase 3
• Study type: Interventional
• Enrollment: 36 (estimated)
• Ages: N/A to 17 Years
• Sex: All
• Sponsor: Amicus Therapeutics (Industry-sponsored)
• Locations: 14 sites (Gainesville, Florida and 13 other locations)
• Trial ID: NCT04808505 on ClinicalTrials.gov

What this trial studies

This Phase 3, open-label, multicenter study aims to assess the safety, efficacy, pharmacokinetics, pharmacodynamics, and immunogenicity of cipaglucosidase alfa and miglustat in pediatric patients aged 0 to under 18 years with infantile onset Pompe disease (IOPD). The study includes two cohorts: one for patients aged 6 months to under 18 years who have received enzyme replacement therapy (ERT) and another for infants aged 0 to under 6 months. Participants will be monitored for clinical outcomes and safety over the course of the treatment.

Who should consider this trial

Good fit: Ideal candidates are pediatric patients aged 0 to under 18 years with a documented IOPD genotype and a history of hypertrophic cardiomyopathy.

Not a fit: Patients who are not experiencing a clinical decline on their current enzyme replacement therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve the health outcomes and quality of life for children suffering from infantile onset Pompe disease.

How similar studies have performed: Other studies have shown promise in treating similar conditions with enzyme replacement therapies, indicating potential for success in this approach.

Eligibility criteria

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)

Where this trial is running

Gainesville, Florida and 13 other locations

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

Study contacts

• Study coordinator: For Site

Conditions Glycogen Storage Disease Type II Infantile Onset