Clinical trial NCT00074958: 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
Overall status: COMPLETED
Phase: PHASE2
Conditions: Fabry Disease
Keywords: a-Galactosidase A
aGal
r-haGAL
Fabry
GL-3
Fabrazyme
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2003-12-25
Enrollment: 16
Sex: ALL
Minimum age (years): 7
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.


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

Primary outcomes:
measure: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
timeFrame: Baseline, Week 24 and Week 48
Secondary outcomes:
measure: Plasma GL-3
timeFrame: Baseline, Week 24 and Week 48
Other outcomes:
Locations:
city: Tucson
country: United States
facility: University of Arizona
state: Arizona
city: Lyon
country: France
facility: Hopital Edouard Herriot
city: Marseille
country: France
facility: Hopital de la Timone Enfants
city: Paris
country: France
facility: Hopital Europeen Georges Pompidou
city: Warsaw
country: Poland
facility: Instytut Pomnik Centrum Zdrowia Dziecka
city: Pendlebury
country: United Kingdom
facility: Royal Manchester Children's Hospital
state: Manchester
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Sick Children
Study officials:
affiliation: Genzyme, a Sanofi Company
name: Medical Monitor
role: STUDY_DIRECTOR
References:
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.