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Completed

NCT Number: NCT03289065

Fabry Outcome Survey (FOS)

The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease. The data from FOS may provide guidance to healthcare professionals about disease treatment options.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Shire

Lexington, Massachusetts, 02421, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Participants must have a documented diagnosis of Fabry disease
  • This may include a genetic mutation analysis. The collection of the genetic mutation analysis result is optional and dependent on the participant providing their consent for this data to be used in the FOS registry.
  • Participants can be untreated, currently or previously treated with Replagal, or any other approved treatment for Fabry disease.
  • Signed and dated written informed consent from the participant
  • For participants aged less than (<) 18 years (or as per local regulation), parent and/or participant's legally authorized representative (LAR), and assent of the minor, where applicable, is necessary.
  • If a participant is unable to read or if a legally acceptable representative is unable to read, an impartial witness should be present during the informed consent discussion and should sign and personally date the informed consent.
  • Informed consent must be obtained from LARs for cognitively impaired participants when applicable.

Exclusion criteria

  • Participants currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials) will be excluded from the Registry.

Treatment and study plan

Primary outcomes

  1. Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)

    Time frame: Baseline to year 20

    An adverse event (AE) is any noxious, pathologic, or unintended change in anatomical, physiologic, or metabolic function as indicated by physical signs, symptoms, or laboratory changes occurring in the registry, whether or not considered product-related. This includes an exacerbation of a pre-existing condition. An AE or ADR that meets one or more of the following criteria/outcomes is classified as SAE whether considered to be related to the pharmaceutical product or not: death, life-threatening, requires inpatient hospitalization or prolongation of existing hospitalizations, a persistent or significant disability or incapacity, a congenital anomaly or birth defect and important medical events.

  2. Number of Participants With Infusion-related Reactions (IRRs)

    Time frame: Baseline to year 20

    An infusion-related reaction (IRR) is defined as an AE that has been assessed as at least possibly related to treatment with Replagal and occurs during an infusion or up to 24 hours post Replagal infusion.

  3. Renal Function by Estimated Glomerular Filtration Rate (eGFR)

    Time frame: Baseline to year 20

    Renal function will be measured by Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) for adults and by Counahan-Barratt for children (<18 years).

  4. Left Ventricular Mass Index (LVMI)

    Time frame: Baseline to year 20

    Left ventricular mass index (LVMI) will be assessed from baseline or from birth (age at event) to evaluate the course of Fabry disease in participants who are currently untreated or are being treated with an approved Fabry treatment.

  5. Age at Mortality Event (survival)

    Time frame: Baseline to year 20

    Age at mortality event (survival) will be analysed with relevant split by demographic or baseline characteristic using Kaplan-Meier survival estimates with censoring at last visit in Fabry Outcome Survey (FOS)

  6. Time to First Morbidity Event

    Time frame: Baseline to year 20

    Time to first morbidity event will be analysed with relevant split by demographic or baseline characteristic using Kaplan-Meier survival estimates with censoring at last visit in FOS.

  7. Age at First Morbidity Event

    Time frame: Baseline to year 20

    Age at first morbidity event will be analysed with relevant split by demographic or baseline characteristic using Kaplan-Meier survival estimates with censoring at last visit in FOS.

Sponsors and collaborators

Lead sponsor

Shire

Industry

Registry information

Acronym: FOS

Important dates

Study start
2001
Primary completion
2021
Study completion
2021
First posted
Sep 20, 2017
Registry last updated
Nov 16, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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