A Study of Fabrazyme in Pediatric Patients With Fabry Disease

March 13, 2015 updated by: Genzyme, a Sanofi Company

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

16

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Lyon, France, Cedex 03
        • Hôpital Edouard Herriot
      • Marseille, France, Cedex 05
        • Hôpital de la Timone Enfants
      • Paris, France, Cedex 15
        • Hopital Europeen Georges Pompidou
  • Poland
      • Warsaw, Poland, 04-730
        • Instytut Pomnik Centrum Zdrowia Dziecka
  • United Kingdom
      • London, United Kingdom, WC1N 3JH
        • Great Ormond Street Hospital for Sick Children
    • Manchester
      • Pendlebury, Manchester, United Kingdom, M27 4HA
        • Royal Manchester Children's Hospital
  • United States
    • Arizona
      • Tucson, Arizona, United States, 85724
        • University of Arizona

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years to 13 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Fabrazyme
1.0 mg/kg of Fabrazyme given to the patients every 2 weeks
Biological: Fabrazyme (agalsidase beta)
1 mg/kg every 2 weeks
Other Names:
  • r-hαGAL

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
Time Frame: Baseline, Week 24 and Week 48
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
Time Frame: Baseline, Week 24 and Week 48
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Genzyme, a Sanofi Company

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2002

Primary Completion (Actual)

May 1, 2005

Study Completion (Actual)

July 1, 2005

Study Registration Dates

First Submitted

December 24, 2003

First Submitted That Met QC Criteria

December 24, 2003

First Posted (Estimate)

December 25, 2003

Study Record Updates

Last Update Posted (Estimate)

April 2, 2015

Last Update Submitted That Met QC Criteria

March 13, 2015

Last Verified

March 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AGAL-016-01

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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