Fabry Disease
Conditions
Keywords
a-Galactosidase A, aGAL, r-haGAL, Fabry, GL-3, Fabrazyme
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.
Interventions
Sponsors
Genzyme, a Sanofi Company
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety and efficacy | — |
| Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney | — |
Secondary
| Measure | Time frame |
|---|---|
| Glomerular filtration | — |
| Functional assessment of urinary protein excretion Ophthalmic changes | — |
| Changes in McGill Pain Questionnaire | — |
| Physician's assessment of Fabry Symptoms and pain medication | — |
| SF-36 Health Survey | — |
| Autonomic status | — |
Countries
France, Netherlands, Puerto Rico, United Kingdom, United States
Outcome results
None listed