A Study of Fabrazyme in Pediatric Patients With Fabry Disease

Fabry Disease Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00074958
• Other study ID #: AGAL-016-01
• Status: Completed
• Phase: Phase 2
• First received: December 24, 2003
• Last updated: March 13, 2015
• Start date: October 2002
• Est. completion date: July 2005

Study information

• Verified date: March 2015
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 16
• Est. completion date: July 2005
• Est. primary completion date: May 2005
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 7 Years to 15 Years

Eligibility

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 Design

Endpoint Classification: Safety Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Biological:
• Fabrazyme (agalsidase beta)
1 mg/kg every 2 weeks

Locations

Country	Name	City	State
France	Hopital Edouard Herriot	Lyon
France	Hopital de la Timone Enfants	Marseille
France	Hopital Europeen Georges Pompidou	Paris
Poland	Instytut Pomnik Centrum Zdrowia Dziecka	Warsaw
United Kingdom	Great Ormond Street Hospital for Sick Children	London
United Kingdom	Royal Manchester Children's Hospital	Pendlebury	Manchester
United States	University of Arizona	Tucson	Arizona

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Countries where clinical trial is conducted

United States,  France,  Poland,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Secondary	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	No