A Study of Fabrazyme in Pediatric Patients With Fabry Disease

Study Overview
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Brief Summary
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People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called glycolipids. These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as globotriaosylceramide or GL-3) in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

Official Title
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A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease

Conditions
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Fabry Disease

Intervention / Treatment
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* Biological: Fabrazyme (agalsidase beta)


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Patient or legal guardian must provide written informed consent Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms) Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment Patients must be Tanner Stage ≤ III Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study Exclusion Criteria: Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial Patient has participated in a study employing investigational drug within 30 days of the start of this study Patient has received prior treatment with enzyme replacement therapy Patient is unable to comply with the clinical protocol

Ages Eligible for Study
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Minimum Age: 7 Years
Maximum Age: 15 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Fabrazyme<br>1.0 mg/kg of Fabrazyme given to the patients every 2 weeks | Biological: Fabrazyme (agalsidase beta)<br>* 1 mg/kg every 2 weeks<br>* Other names: r-hαGAL;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin | Skin biopsies were taken at Baseline, Week 24 and Week 48 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe). | Baseline, Week 24 and Week 48 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Plasma GL-3 | Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL. | Baseline, Week 24 and Week 48 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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a-Galactosidase A, aGal, r-haGAL, Fabry, GL-3, Fabrazyme