Registry for Fabry Disease

(CFDI-NR Trial)

Recruiting at 4 trial locations

Overseen By Kaye Le Moine, RN

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Canadian Fabry Research Consortium

Disqualifiers: Under 5, Non-disease mutation, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 2

600 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The trial aims to gather information on Fabry disease, a rare genetic condition that can cause severe pain and organ issues, to better understand how treatments like Enzyme Replacement Therapy (ERT) work over time. This observational study tracks health outcomes for people with Fabry disease in Canada without altering their treatment plans. It seeks participants diagnosed with Fabry disease who are willing to share their health information. Participants should be able to attend clinic visits and interviews during the study. As an unphased study, this trial offers participants the opportunity to contribute to valuable research that could enhance future treatment approaches for Fabry disease.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your doctor.

What is the safety track record for Enzyme Replacement Therapy?

Research has shown that enzyme replacement therapy (ERT) for Fabry disease is generally safe and well-tolerated. In previous studies, agalsidase alfa, a type of ERT, proved safe for both adults and children, with participants from various groups handling it well. Additionally, evidence suggests that patients can safely administer this treatment themselves without added risks. Over time, agalsidase alfa continues to be safe and improves the health of people with Fabry disease. Another long-term study found that agalsidase beta, another ERT option, helped patients live longer without major health problems. Overall, these findings suggest that ERT is a dependable option for managing Fabry disease. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the Canadian Fabry Disease Initiative because it aims to maintain a national registry that could significantly enhance the understanding and management of Fabry disease in Canada. Unlike individual patient records, this comprehensive registry collects data from all individuals diagnosed with Fabry disease across the country. By doing so, it allows for a more detailed analysis of the disease's progression, response to treatments like enzyme replacement therapy, and overall patient outcomes. This initiative could lead to improved treatment strategies and potentially faster diagnosis, benefiting both current and future patients.

What evidence suggests that Enzyme Replacement Therapy is effective for Fabry disease?

Research has shown that enzyme replacement therapy (ERT) can help people with Fabry disease. Studies have found that ERT can stabilize or improve kidney and heart function and reduce nerve pain. Long-term evidence supports its effectiveness in enhancing patients' quality of life. However, some patients may still experience kidney problems despite treatment. While ERT is approved and used worldwide, ongoing research, including the national registry in this trial, aims to better understand its long-term effects. ^{3 6 7 8 9}

Who Is on the Research Team?

Michael L West, MD

Principal Investigator

Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada

Are You a Good Fit for This Trial?

Inclusion Criteria

Age 5 years and older, up to & including age 85 years;

Able to give informed consent;

A clinical diagnosis of Fabry disease;

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Data Collection

Initial data collection including medical history, physical examination, and various tests

1 visit

1 visit (in-person)

Annual Follow-up

Data collection every 12 months including medical history, physical examination, and various tests

12 months

1 visit per year (in-person)

Long-term Monitoring

Continued and long-term collection of information related to the effectiveness of ERT and other treatments

Ongoing

What Are the Treatments Tested in This Trial?

Interventions

• Enzyme Replacement Therapy

How Is the Trial Designed?

Group I: National Registry Experimental Treatment 1 Intervention

To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada.

Who Is Running the Clinical Trial?

Canadian Fabry Research Consortium

Lead Sponsor

Trials

1

Recruited

600+

Nova Scotia Health Authority

Collaborator

Trials

302

Recruited

95,300+

Citations

1. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/40276560/

Two decades of experience of the Fabry Outcome Survey ... Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme ...

2. sciencedirect.com sciencedirect.com/science/article/pii/S2214426925000308

Two decades of experience of the Fabry Outcome Survey ... Analyses of up to 20 years of data from the Fabry Outcome Survey (FOS) assessed the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

3. academic.oup.com academic.oup.com/ckj/advance-article/doi/10.1093/ckj/sfaf318/8286902

Clinical outcomes in Fabry patients switching to agalsidase ... Fabry disease (FD) leads to progressive nephropathy, and renal decline persists in many patients despite enzyme replacement therapy (ERT) or ...

4. ojrd.biomedcentral.com ojrd.biomedcentral.com/articles/10.1186/s13023-024-03441-1

Effectiveness and safety of enzyme replacement therapy in the ... ERT could effectively stabilize or improve renal and cardiac function and relieve neuropathic pain in patients with Fabry disease, and no AE occurred during ...

5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/24831586/

Long-term effectiveness of enzyme replacement therapy in ... Conclusions: These data provide some further evidence on the long-term effectiveness of ERT in adults with Fabry disease, but evidence of effectiveness could ...

6. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK11617/

Safety of enzyme replacement therapy - Fabry Disease - NCBI The data in FOS confirm that agalsidase alfa has a good safety profile and is well tolerated in adults and children when used in a wide range of patients and ...

7. ojrd.biomedcentral.com ojrd.biomedcentral.com/articles/10.1186/s13023-024-03416-2

Safety analysis of self-administered enzyme replacement ... These findings suggest that self-administration of agalsidase alfa or velaglucerase alfa infusions are not associated with additional safety risks.

8. sciencedirect.com sciencedirect.com/science/article/pii/S2214426924000752

Long-term safety of enzyme replacement therapy with ... These findings suggest that agalsidase alfa treatment demonstrates continued safety and sustains patients' clinical course over the long term.

9. jmg.bmj.com jmg.bmj.com/content/52/5/353

Ten-year outcome of enzyme replacement therapy with ... This 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. Most patients remained alive and event-free.