AT1001-033

• Research type

  Research Study

• Full title

  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

• IRAS ID

  1011795

• Contact name

  Consuelo Almendros

• Sponsor organisation

  Amicus Therapeutics, Inc.

• Clinicaltrials.gov Identifier

  NCT06904261

• Research summary

  Fabry disease is caused by an inherited change in the genetic material (also known as DNA), which results in lower-than-normal levels of an enzyme called alpha galactosidase A (alpha-Gal A). This enzyme is important in helping the body break down and remove certain types of fatty substances which are present in most cells of healthy humans. In Fabry disease, because of the low enzyme levels, there is a buildup of fatty substances in several tissues such as the kidneys, heart, skin, and blood vessels. The increased level of these fatty substances is believed to cause the symptoms of, and difficulties experienced in patients with Fabry disease.
  The purpose of this study is to find out if an investigational drug called migalastat can help children with Fabry disease and if it is safe for them. Early initiation of therapy and lifelong treatment provide an opportunity to slow disease progression and prolong life expectancy. Migalastat can increase the levels of the alpha-Gal A enzyme and help the enzyme work better.
  The study will be conducted worldwide with approx. 8-10 participants with Fabry disease who are 2 to < 12 years of age at the time of enrolment.
  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 participants who discontinue treatment at any time. The participants will have various tests and procedures such as medical history, physical examinations, echocardiogram (ECHO), electrocardiogram (ECG), blood and urine sample collection, questionnaires.

• REC name

  South West - Central Bristol Research Ethics Committee

• REC reference

  25/SW/0085

• Date of REC Opinion

  28 Aug 2025

• REC opinion

  Further Information Favourable Opinion