ClinicalTrials.gov record NCT06904261
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 2 to < 12 Years) With Fabry Disease and Amenable GLA Variants
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This open-label study gives migalastat to children aged 2 to <12 years who have Fabry disease with GLA variants considered amenable to the drug. Treatment lasts 12 months in two consecutive stages (about 3 months then 9 months). Participants will have blood sampling for drug levels, safety monitoring, and assessments of kidney, heart, biomarkers, symptoms, and quality of life. There is a short safety follow-up if treatment is stopped.
What it is studying. The study tests the safety, pharmacokinetics (how much drug is in the blood over time), pharmacodynamics (biologic effects), and measures of clinical effect of 12 months of migalastat given every other day to children with Fabry disease and amenable GLA variants.
What the researchers hope to learn. To collect data on safety, exposure (PK), and biological effects (PD) of migalastat in young children with amenable GLA variants, and to gather measures of kidney and heart function, disease biomarker (lyso‑Gb3), symptoms, and quality of life.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to < 12 years of age with Fabry disease and with amenable GLA variants.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Drug
- Migalastat HCl 20 mg
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Male or female subjects, diagnosed with Fabry disease who are between ages 2 and < 12 years at randomization (subjects aged 11 years must have birthdays > 30 days after randomization)
- Subject's parent or legally authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable.
- Subject has a GLA variant documented in his/her medical record that is amenable to migalastat prior to Visit 2.
- Subject has not received ERT (eg, Replagal® [agalsidase alfa] or Fabrazyme® [agalsidase beta]) for at least 14 days prior to Baseline visit.
- Subject has at least 1 documented complication (ie, historical or current laboratory abnormality or sign/symptom) of Fabry disease
- If of reproductive potential, both male and female subjects agree to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat.
Exclusion criteria
- Has moderate or severe renal impairment (eGFR < 60 mL/min/1.73 m2 at Visit 1 [screening]).
- Has advanced kidney disease requiring dialysis or kidney transplantation.
- History of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol).
- Has received any investigational/experimental drug, biologic, or device within 30 days or 5 half-lives of the investigational product (whichever is longer) before Visit 1 (screening).
- Has received any gene therapy at any time or anticipates starting gene therapy during the study period.
- Requires treatment with Glyset (miglitol) or Zavesca (miglustat), within 6 months before Visit 1(screening) or throughout the study.
- Has any intercurrent illness or condition at Visit 1 (screening) or Visit 2 (baseline) that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator that the potential subject may have an unacceptable risk by participating in this study.
- Pregnant or breastfeeding
- Otherwise unsuitable for the study in the opinion of the investigator
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
This is a Phase 3b, 2-stage, open-label, uncontrolled, multicenter study to evaluate the safety, PK, PD, and efficacy of 12 months of migalastat treatment in pediatric subjects 2 to < 12 years of age with Fabry disease and with amenable GLA variants. Subjects must be either naïve to enzyme replacement therapy (ERT) or have stopped ERT at least 14 days before Baseline visit. The study will consist of 2 treatment stages followed by an open-label extension (OLE). Stage 1 will be a treatment period of approximately 3 months (12 weeks); Stage 2 will be a treatment period of 9 months. There will be no break in treatment between Stages 1 and 2. There will be a 30-day (untreated) safety follow-up period for subjects who discontinue treatment at any time. Subjects will be randomly assigned 1:1:1 to 1 of 3 PK sampling groups using interactive response technology (IRT). Four blood samples for the determination of migalastat concentrations in plasma will be collected in one 24-hour period between Day 15 and Day 30 and at Month 6, and 1 PK (trough) sample will be collected at Month 6 and again at Month 12.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Take migalastat dispersible tablets every other day for 12 months (two continuous stages: ~3 months then 9 months). Be randomly assigned to one of three pharmacokinetic (PK) sampling groups and give multiple blood samples for drug levels—including four samples over one 24‑hour period between Day 15 and Day 30 and additional trough samples at Months 6 and 12. The intensive four-sample 24-hour collection is done twice: once between Day 15 and Day 30, and again at Month 6. Undergo safety and efficacy assessments over the year such as blood and urine tests for kidney measures (eGFR, protein/albumin), measurements of left ventricular mass index, blood tests for pharmacodynamic markers (lyso‑Gb3), and symptom/quality‑of‑life questionnaires. If a participant stops treatment there is a 30‑day untreated safety follow‑up.
How the study is structured. Open-label, single-group treatment study (all participants receive the study drug). Phase 3b with two sequential treatment stages totaling 12 months and an open-label extension option. Children are randomly assigned to one of three schedules for intensive blood sampling to measure drug levels; additional routine visits collect safety tests, biomarkers, heart and kidney measures, and questionnaires. No placebo or masked treatment is used.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- The listed sites are in Belgium, Germany, Japan, Spain, United Kingdom, United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Fabry disease
Important dates
- Study start
- Jan 8, 2026
- Primary completion
- December 2027 (estimated)
- Study completion
- December 2028 (estimated)
- Target enrollment
- 8 participants (estimated)
- Last updated on registry
- Sep 1, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Amicus Therapeutics
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Amicus Therapeutics Patient Advocacy 📞 609-662-2000 ✉ patientadvocacy@amicusrx.com
Participating sites (12)
- Emory GeneticsRecruiting
Atlanta, Georgia, 30322 · United States
- University of Minnesota Masonic Children's HospitalRecruiting
Minneapolis, Minnesota, 55455 · United States
- Atrium Health Levine Children's HospitalRecruiting
Charlotte, North Carolina, 28203 · United States
- Cincinnati Children's Hospital Medical CenterRecruiting
Cincinnati, Ohio, 45229 · United States
- UPMC Children's Hospital of PittsburghRecruiting
Pittsburgh, Pennsylvania, 15224 · United States
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.Recruiting
Fairfax, Virginia, 22030 · United States
- Universitair Ziekenhuis (UZ) LeuvenRecruiting
Leuven, Vlaams-Brabant, 3000 · Belgium
- Universitäetsklinikum Müenster (UKM) Klinik für Kinder- und Jugendmedizin - Allgemeine PaediatrieRecruiting
Münster, North Rhine-Westphalia, 48149 · Germany
- Kitasato University HospitalNot Yet Recruiting
Sagamihara, Kanagawa, 252-0375 · Japan
- Hospital Universitario de la PazRecruiting
Madrid, Madrid, 28046 · Spain
Terms used on this page · explanations by MedicalUpdates.ai
- open-label
- No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
- pharmacokinetics
- How the body absorbs, distributes, breaks down and removes a drug. It is studied by measuring drug levels or related substances at set times after a dose.
- pharmacodynamics
- What a drug does to the body, for example how it changes a blood marker or a symptom, and how that relates to the dose.
- randomization
- Participants are assigned to the study groups by chance, like a coin toss, rather than chosen by the doctor or the participant. This is done so the groups are comparable.
- legally authorized representative
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- written informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- assent
- A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
- Baseline
- Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
- eGFR
- A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
- investigational
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- 5 half-lives
- The time it takes for the amount of a drug in the body to fall by half. 'Five half-lives' is often used as the point at which a previous drug has essentially left the body.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- open-label extension
- A continuation study in which participants who completed an earlier study can keep receiving the treatment, usually with everyone knowing what they are given.
- safety follow-up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- 1:1:1
- How many participants go to each group. In a 2:1 ratio, two are assigned to the first group for every one assigned to the second.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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