What side effects are associated with this type of intervention?

Common side effects of gene therapy treatments, such as autologous stem cell transplantation using lentivirus-transduced CD34+ cells, include potential risks of infection, immune reactions, and toxicity related to the viral vector used for gene delivery. Patients may experience mild to moderate adverse effects such as fever, rash, and itching. There is also a risk of insertional mutagenesis, which can potentially lead to malignancies. Close monitoring for these side effects is essential to ensure patient safety.

What prior FDA approvals exist?

The FDA has approved several treatments for Fabry Disease, primarily focusing on enzyme replacement therapies (ERTs). These include agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal), which aim to supplement the deficient alpha-galactosidase A enzyme. More recently, the FDA approved migalastat (Galafold), an oral pharmacological chaperone that stabilizes the body's own dysfunctional enzyme. While these treatments are not gene therapies, they share the goal of increasing alpha-galactosidase A activity, similar to the investigational autologous stem cell transplantation using lentivirus-transduced CD34+ cells.

What other types of research exist?

Promising novel alternatives for Fabry Disease treatment in 2024 include: <ol> <li>Gene Therapy: Ongoing advancements in CRISPR-Cas9 and other gene-editing technologies are being explored to correct the genetic mutations causing Fabry Disease.</li> <li></li> </ol> Enzyme Replacement Therapy (ERT): New formulations and delivery methods, such as PEGylated enzymes, aim to improve the efficacy and reduce the frequency of ERT. 3. Chaperone Therapy: Pharmacological chaperones like migalastat, which stabilize the misfolded alpha-galactosidase A enzyme, are being refined for better patient outcomes. 4. Substrate Reduction Therapy (SRT): Novel SRTs are being developed to reduce the accumulation of globotriaosylceramide (GL-3) in cells, potentially offering an oral treatment option.

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Gene Therapy

Engineered Stem Cell Transplant for Fabry Disease

Phase 1

Waitlist Available

Research Sponsored by University Health Network, Toronto

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Be between 18 and 65 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 5 years

Awards & highlights

All Individual Drugs Already Approved

No Placebo-Only Group

Summary

This trial involves taking a patient's own stem cells, adding a new gene to them, and then putting them back into the patient. The goal is to help adult males with Fabry disease by increasing the levels of an important enzyme. Researchers want to see if this approach is safe and effective.

Who is the study for?

This trial is for male patients aged 18-50 with Fabry Disease, specifically the Classic FD Type I phenotype. They must have been on enzyme replacement therapy (ERT), have adequate organ function, and be willing to follow study procedures and use contraception post-treatment. Exclusions include uncontrolled conditions like hypertension or psychiatric disorders, severe heart or kidney disease, immune deficiencies, prior transplants, active infections including HIV/HBV/HCV/HTLV or syphilis.

What is being tested?

The trial tests a new treatment where patients' own stem cells are modified with a lentivirus to carry the alpha-gal A gene and then returned to their bodies. The goal is to see if this can safely increase alpha-gal A enzyme levels in adult males with Fabry disease.

What are the potential side effects?

Potential side effects may include reactions related to stem cell transplantation such as infection risks due to weakened immunity, possible infusion-related reactions from the modified cells, and toxicity from Melphalan used before transplant.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 5 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Number of Participants With Abnormal Laboratory Values and/or Adverse Events That Are Related to Treatment

Secondary study objectives

Alpha-gal A enzyme activity levels

Gb3 levels

lyso-Gb3 analogue (+16)

+7 more

Awards & Highlights

All Individual Drugs Already Approved

Therapies where all constituent drugs have already been approved are likely to have better-understood side effect profiles.

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: Treatment ArmExperimental Treatment1 Intervention

Patients will receive Health Canada approved transduced autologous CD34+ cell product.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Benzalkonium

FDA approved

Do I qualify?Apply below to find out

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The most common treatments for Fabry Disease, such as the gene therapy involving autologous stem cell transplantation with lentivirus-transduced CD34+ cells, work by increasing the levels of the deficient alpha-galactosidase A (alpha-gal A) enzyme. This enzyme is crucial for breaking down globotriaosylceramide (GL-3), a substance that accumulates in the tissues of Fabry Disease patients and leads to various symptoms and organ damage. By boosting alpha-gal A levels, these treatments aim to reduce GL-3 buildup, thereby alleviating symptoms, improving organ function, and enhancing the quality of life for patients.