FACTS Gene Therapy for Patients on ERT


Fabry disease is a rare inherited disorder caused by low levels of an enzyme called alpha-galactosidase A (AGA). Low levels of AGA are due to a change in a gene called GLA and lead to a build-up of a substance called GB3. There is no cure for Fabry disease. The standard therapy is to receive intravenous infusions of enzyme manufactured in cells in a laboratory every 2 weeks for life. Dr. Aneal Khan, a metabolic specialist is conducting a gene therapy study at the University of Calgary with male patients with Fabry disease.

The purpose of this study is to determine the overall safety and toxicity of autologous stem cell transplantation (ASCT) with engineered cells to express alpha-galactosidase A (gene therapy for Fabry disease).


Currently recruiting participants: Yes

Eligible ages: 18 to 50

Inclusion criteria:

-Male patients 18–50 years of age
-Diagnosis of Fabry Disease (<7.0% of Mean) or absent a-gal A activity in plasma, and classic Fabry Disease Type 1 phenotype
-Must be on ERT for 6 months
-ECOG of 0 or 1
-Adequate organ function with 90 days prior to Pre-mobilization
-Willing to sign consent form, understand and comply with all procedures of the study
-Willing to abstain from sexual activity or use a double-barrier method from day of Melphalan until 12 months after transplant
- Willing to not donate sperm after Melphalan

Exclusion criteria:

-Females and Males with variant Fabry Disease
-Use of immunosuppressive agents, anticoagulants or antiplatelet agents
-On going ERT related infusion adverse reactions
-Presence of antibodies from enzyme
-Positive transmissible disease testing
-Uncontrolled infections
-prior malignant cancers
-chronic kidney disease
-history of heart failure
-other heart arrhythmias or coronary artery disease
-prior stroke
-uncontrolled high blood pressure
-advanced liver disease
-immune deficiency
-chronic obstructive pulmonary disease
-moderate to severe blood counts from hematology
-prior bone marrow transplant or organ transplant
-condition physician assess unable to safety be in the study (serious illness) including uncontrolled psychiatric disorders
-prior tuberculosis
-use of another investigational drug within 30 days


This study is not currently accepting expressions of interest via the website. Please see contact information below.

Additional information

Contact information

Contact Shelly Jelinski, Research Coordinator, at the University of Calgary at 403-955-7874

Principal investigator:

Aneal Khan

Clinical trial: