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

Trial details

Who runs it

Amicus Therapeutics Inc.

Trial code

EU 2025-521244-38-00

Record updated

2026. április 24.

Original description

to characterize the pharmacokinetics (PK) and to confirm pediatric dose regimens predicted to provide plasma migalastat exposure levels similar to adolescents and adults in pediatric subjects aged 6 to < 12 years old and 2 to < 6 years old with Fabry disease and who have the gene encoding α-galactosidase A (α-Gal A) (GLA) variants amenable to treatment with migalastat to evaluate the safety of migalastat treatment in pediatric subjects diagnosed with Fabry disease and who have GLA variants amenable to treatment with migalastatRead full original descriptionShow less

to characterize the pharmacokinetics (PK) and to confirm pediatric dose regimens predicted to provide plasma migalastat exposure levels similar to adolescents and adults in pediatric subjects aged 6 to < 12 years old and 2 to < 6 years old with Fabry disease and who have the gene encoding α-galactosidase A (α-Gal A) (GLA) variants amenable to treatment with migalastat to evaluate the safety of migalastat treatment in pediatric subjects diagnosed with Fabry disease and who have GLA variants amenable to treatment with migalastat

Inclusion: 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. • For subjects without a known GLA variant, an amenable GLA genotyping result from the local laboratory must be received 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, including but not limited to: a. corneal whorls b. neuropathic pain and/or acroparesthesia and/or acute crises persisting or recurring at least twice over the previous 3 months or longer, or requiring management with analgesia c. Fabry disease-related gastrointestinal signs and symptoms (eg, diarrhea, abdominal pain) persisting or recurring at least twice over the previous 3 months or longer d. hypohidrosis (present for at least 3 months) e. left ventricular mass index (LVMi) above the normal range for age and sex f. rhythm and/or conduction disturbances, for example: − episode of tachycardia or bradycardia, − arrhythmia, or; − abnormal PR, QRS, or QT interval g. reduced estimated glomerular filtration rate (eGFR) (using the Schwartz formula) for age and sex, or hyperfiltration (> 135 mL/min/1.73 m2) h. proteinuria or albuminuria in a spot urine (early morning preferable) or as determined by the investigator i. elevated plasma globotriaosylsphingosine (lyso-Gb3) j. hearing impairment and/or tinnitus k. transient ischemic attack/stroke; 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: Subject 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); Subject has received any gene therapy at any time or anticipates starting gene therapy during the study period; Subject requires treatment with Glyset® (miglitol) or Zavesca® (miglustat), within 6 months before Visit 1 (screening) or throughout the study; Subject has advanced kidney disease requiring dialysis or kidney transplantation; Subject has a history of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol); Subject 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; Subject has moderate or severe renal impairment (eGFR < 60 mL/min/1.73 m2 at Visit 1 [screening]); Female subject is pregnant or breastfeeding or is planning to become pregnant during the study period; In the opinion of the investigator, the subject and/or parent or legally-authorized representative is unlikely or unable to comply with the study requirements.

EU CTIS 2025-521244-38-00