Clinical trial NCT00074971: A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
Official title: A Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry Disease
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE3
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: 58
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
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. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In 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 ("globatriaosylceramide" or "GL-3") levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study will test the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease.


Eligibility criteria: Inclusion Criteria:

* Patients must have successfully completed the previous double-blind study (AGAL-1-002-98)
* Patients must provide written informed consent prior to study participation
* Female patients must have a negative pregnancy test prior to each dosing and use a medically accepted method of contraception throughout the study

Exclusion criteria:

* Patient has undergone kidney transplant or is currently on dialysis
* Patient is pregnant or lactating
* Patient is unwilling to comply with the requirements of the protocol
* Patient has a clinically significant organic disease (with the exception of symptoms related to Fabry disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstances that, in the opinion of the investigator, would preclude participation in the study

Primary outcomes:
measure: Safety and efficacy
measure: Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney
Secondary outcomes:
measure: Changes in McGill Pain Questionnaire
measure: Autonomic status
measure: Glomerular filtration
measure: Functional assessment of urinary protein excretion Ophthalmic changes
measure: SF-36 Health Survey
measure: Physician's assessment of Fabry Symptoms and pain medication
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Cedars-Sinai Medical Center
state: California
city: San Francisco
country: United States
facility: University of California San Fransisco
state: California
city: Coral Springs
country: United States
facility: Northwest Oncology & Hematology Associates
state: Florida
city: Chicago
country: United States
facility: Children's Memorial Hospital
state: Illinois
city: Iowa City
country: United States
facility: University of Iowa Hospital and Clinics
state: Iowa
city: Baltimore
country: United States
facility: Greater Baltimore Medical Center
state: Maryland
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center
state: Massachusetts
city: Billings
country: United States
facility: Fetal Diagnostic and Imaging Center
state: Montana
city: Albuquerque
country: United States
facility: University of New Mexico
state: New Mexico
city: New York
country: United States
facility: Mount Sinai School of Medicine
state: New York
city: Rochester
country: United States
facility: University of Rochester School of Medicine
state: New York
city: Hickory
country: United States
facility: Hart Family Practice
state: North Carolina
city: San Antonio
country: United States
facility: Hematology/Oncology Associates of South Texas
state: Texas
city: Seattle
country: United States
facility: University of Washington School of Medicine
state: Washington
city: Lyon
country: France
facility: Hospital Edouard Herriot
city: Paris
country: France
facility: Hospital Europeen Georges Pompidou
city: Amsterdam
country: Netherlands
facility: Academisch Medisch Centrum
city: San Juan
country: Puerto Rico
facility: University of Puerto Rico
city: London
country: United Kingdom
facility: National Hospital for Neurology and Neurosurgery
city: Manchester
country: United Kingdom
facility: Hope Hospital
Study officials:
affiliation: Genzyme Coorporation
name: Medical Monitor
role: STUDY_DIRECTOR
References:
citation: Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.