Evaluating a new treatment for infantile onset glycogen storage disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Study contacts

• Study coordinator: For Site
• Email: patientadvocacy@amicusrx.com
• Phone: 609-662-2000

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Long-term outcomes for adults with Fabry disease on migalastat

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• Migalastat for children aged 2 to <12 with Fabry disease and amenable GLA variants

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• Global registry for patients with Pompe disease

  This study is collecting information from people with Pompe disease to see how well current treatments work and how they affect daily life, including both those who are being treated and those who aren't.

  Recruiting at 29 sites Amicus Therapeutics · Little Rock, Arkansas and 40 other locations · NCT06121011

• Observational study of women with Fabry disease during pregnancy and breastfeeding

  This study looks at how pregnancy and breastfeeding affect women with Fabry disease and their babies, comparing those who have taken a treatment called migalastat to those who haven't.

  Recruiting Amicus Therapeutics · Philadelphia, Pennsylvania · NCT04252066

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.