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A Study of Fabrazyme in Pediatric Patients With Fabry Disease

Primary Purpose

Fabry Disease

Status
Completed
Phase
Phase 2
Locations
International
Study Type
Interventional
Intervention
Fabrazyme (agalsidase beta)
Sponsored by
Genzyme, a Sanofi Company
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Fabry Disease focused on measuring a-Galactosidase A, aGal, r-haGAL, Fabry, GL-3, Fabrazyme

Eligibility Criteria

7 Years - 15 Years (Child)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • University of Arizona
  • Hopital Edouard Herriot
  • Hopital de la Timone Enfants
  • Hopital Europeen Georges Pompidou
  • Instytut Pomnik Centrum Zdrowia Dziecka
  • Royal Manchester Children's Hospital
  • Great Ormond Street Hospital for Sick Children

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Fabrazyme

Arm Description

1.0 mg/kg of Fabrazyme given to the patients every 2 weeks

Outcomes

Primary Outcome Measures

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).

Secondary Outcome Measures

Plasma GL-3
Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.

Full Information

First Posted
December 24, 2003
Last Updated
March 13, 2015
Sponsor
Genzyme, a Sanofi Company
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1. Study Identification

Unique Protocol Identification Number
NCT00074958
Brief Title
A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Official Title
A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
Study Type
Interventional

2. Study Status

Record Verification Date
March 2015
Overall Recruitment Status
Completed
Study Start Date
October 2002 (undefined)
Primary Completion Date
May 2005 (Actual)
Study Completion Date
July 2005 (Actual)

3. Sponsor/Collaborators

Name of the Sponsor
Genzyme, a Sanofi Company

4. Oversight

5. Study Description

Brief Summary
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Fabry Disease
Keywords
a-Galactosidase A, aGal, r-haGAL, Fabry, GL-3, Fabrazyme

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
16 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Fabrazyme
Arm Type
Experimental
Arm Description
1.0 mg/kg of Fabrazyme given to the patients every 2 weeks
Intervention Type
Biological
Intervention Name(s)
Fabrazyme (agalsidase beta)
Other Intervention Name(s)
r-hαGAL
Intervention Description
1 mg/kg every 2 weeks
Primary Outcome Measure Information:
Title
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
Description
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).
Time Frame
Baseline, Week 24 and Week 48
Secondary Outcome Measure Information:
Title
Plasma GL-3
Description
Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.
Time Frame
Baseline, Week 24 and Week 48

10. Eligibility

Sex
All
Minimum Age & Unit of Time
7 Years
Maximum Age & Unit of Time
15 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Medical Monitor
Organizational Affiliation
Genzyme, a Sanofi Company
Official's Role
Study Director
Facility Information:
Facility Name
University of Arizona
City
Tucson
State/Province
Arizona
ZIP/Postal Code
85724
Country
United States
Facility Name
Hopital Edouard Herriot
City
Lyon
ZIP/Postal Code
Cedex 03
Country
France
Facility Name
Hopital de la Timone Enfants
City
Marseille
ZIP/Postal Code
Cedex 05
Country
France
Facility Name
Hopital Europeen Georges Pompidou
City
Paris
ZIP/Postal Code
Cedex 15
Country
France
Facility Name
Instytut Pomnik Centrum Zdrowia Dziecka
City
Warsaw
ZIP/Postal Code
04-730
Country
Poland
Facility Name
Royal Manchester Children's Hospital
City
Pendlebury
State/Province
Manchester
ZIP/Postal Code
M27 4HA
Country
United Kingdom
Facility Name
Great Ormond Street Hospital for Sick Children
City
London
ZIP/Postal Code
WC1N 3JH
Country
United Kingdom

12. IPD Sharing Statement

Citations:
PubMed Identifier
18346516
Citation
Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3.
Results Reference
derived

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A Study of Fabrazyme in Pediatric Patients With Fabry Disease

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