Treatment for Fabry Disease

Phase-Based Progress Estimates
1
Effectiveness
1
Safety
University Health Network, Toronto, Canada
Fabry Disease+1 More
Eligibility
18+
All Sexes
Eligible conditions
Select

Study Summary

This study is evaluating whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increased risk of adverse events.

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Eligible Conditions

  • Fabry Disease

Treatment Effectiveness

Effectiveness Progress

1 of 3

Study Objectives

This trial is evaluating whether Treatment will improve 1 primary outcome and 1 secondary outcome in patients with Fabry Disease. Measurement will happen over the course of 3 years.

3 years
The FAbry STabilization indEX (FASTEX) score
5 years
Major Adverse Cardiac Events (MACE)

Trial Safety

Safety Progress

1 of 3

Trial Design

0 Treatment Group

This trial requires 250 total participants across 0 different treatment group

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: 5 years
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly 5 years for reporting.

Closest Location

University Health Network - Toronto, Canada

Eligibility Criteria

This trial is for patients born any sex aged 18 and older. There are 2 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Fabry disease;
Age ≥ 18 years.

Patient Q&A Section

What causes fabry disease?

"This cohort study supports the hypothesis that Fabry disease is caused by a defect of the enzyme alpha-galactosidase A. There is, however, evidence that only a minority of patients with alpha-galactosidase A deficiency have clinical manifestations of Fabry disease." - Anonymous Online Contributor

Unverified Answer

Can fabry disease be cured?

"For the first time, a cure for Fabry disease was determined. Clinical and biochemical parameters remained stable 6 months after the cessation of the beta-glucosidase inhibitor agalsidase beta. The reduction in enzyme activities and the normalization of Fabry disease biomarkers in the circulation indicate that agalsidase beta treatment can indeed lead to improvement of the disease. Further studies are necessary to confirm our findings." - Anonymous Online Contributor

Unverified Answer

How many people get fabry disease a year in the United States?

"With the exception of one population, there were no significant differences for the prevalence of FD in various age ranges. There was one case of FD in the US per 250 000 inhabitants per year. Therefore, the prevalence of FD is 1.1 per million inhabitants per year. The prevalence of FD is about 1.6 cases per million inhabitants at any given time. The prevalence of FD shows considerable variability in different geographic regions, with highest prevalence in the Middle East. There was no difference among those with and without diabetes." - Anonymous Online Contributor

Unverified Answer

What are the signs of fabry disease?

"Although Fabry disease can present with any systemic disease, men with Fabry disease more often present with systemic symptoms such as myalgia, and women with Fabry disease present more often with a family history of heart disease. Fabry disease patients are less likely to have angiographic evidence of atherosclerosis, and they have a longer time of course and a lower frequency of cardiac events than systemic vasculitis. In symptomatic patients, Fabry disease can also present with angiographically demonstrable small vessel involvement. Patients with Fabry disease often present with gastrointestinal symptoms such as angina or diarrhea. These patients more often present with severe anemia, peripheral neuropathy, and renal disease compared to patients without Fabry disease." - Anonymous Online Contributor

Unverified Answer

What are common treatments for fabry disease?

"There are no approved treatments for fabry disease. Because of the debilitating nature of the disease, supportive, personalized patient-centered care often is necessary. Because of the high risk of sudden death from cardiac complications due to cardiovascular disease in this group, periodic cardiac evaluations and monitoring is highly recommended. Long-term management includes monitoring of cardiovascular risk factors and the use of aspirin for people with acute coronary syndrome who are at higher than usual risk." - Anonymous Online Contributor

Unverified Answer

What is fabry disease?

"Fabry disease is a kidney or heart disease that is due to inherited abnormalities in the enzyme aldolase B. It is an X-linked recessive disease that is associated with sensorineural hearing loss.\n" - Anonymous Online Contributor

Unverified Answer

How does treatment work?

"[A combination of ERT and IFN-α2a treatment is sufficient to stop renal damage and to prevent cardiovascular events] (https://www.bioglan.com/pages/fabry-treatment). If you are a patient with Fabry disease or familial Fabry disease"

"Chiton (disambiguation)\n\nThe name Chiton is used in different ways; the most common is to describe specific species of gastropod." - Anonymous Online Contributor

Unverified Answer

What is the latest research for fabry disease?

"The latest published papers that relate to Fabry disease will be published in medical journals, research papers, and in the ‘Cancer Research UK’ magazine. It is important to keep receiving these recent updates as [research can help make sure Fabry disease remains the most comprehensively searched, best-understood and treated form of the hereditary [protein] disorders]. To receive these updates visit Power (http://www.withpower.com/clinic_trials)." - Anonymous Online Contributor

Unverified Answer

Is treatment typically used in combination with any other treatments?

"Most of the patients were treated using a combination of treatment. In patients treated with corticosteroid alone, a low percentage was managed to respond satisfactorily. The effectiveness of combined treatment seemed to be similar and acceptable for patients with or without renal involvement." - Anonymous Online Contributor

Unverified Answer

What is the average age someone gets fabry disease?

"In patients with Fabry disease, renal disease is present at an earlier age than the general population. The mean age of disease manifestation is 17.2 yr. Fabry disease is diagnosed in both males and females." - Anonymous Online Contributor

Unverified Answer

What are the common side effects of treatment?

"There were no obvious correlations between the side effects and the diseases being treated with the medications. Most side effects were mild and tolerable, with a small percentage only affecting the specific individuals in the cases of allergic reaction, hypersensitivity, or other special side effects. Many other side effects may not be reported on medical records, as the side effects often only pose minor negative impact on patients." - Anonymous Online Contributor

Unverified Answer

Has treatment proven to be more effective than a placebo?

"Fabry disease patients that received and who had been on treatment before enrollment showed significantly greater decreases in MDA and improved GFR, CKD, and EF by 2 years of treatment, but no improvements in ECG in patients receiving a placebo." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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