Fabry Outcome Survey (FOS)

NCT03289065 | Completed

• 1 other identifier: FOS
• Study Type: observational
• Target: 4,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fabry Disease

Keywords

Genetic; Fabry Disease; Glycolipid; lysosomal

Outcome Measures

Primary Outcomes (7)

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

  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.

  Baseline to year 20

• Number of Participants With Infusion-related Reactions (IRRs)

  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.

  Baseline to year 20

• Renal Function by Estimated Glomerular Filtration Rate (eGFR)

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

  Baseline to year 20

• Left Ventricular Mass Index (LVMI)

  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.

  Baseline to year 20

• Age at Mortality Event (survival)

  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)

  Baseline to year 20

• Time to First Morbidity Event

  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.

  Baseline to year 20

• Age at First Morbidity Event

  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.

  Baseline to year 20

Study Arms (1)

FOS Participant

FOS is a disease registry open to all Fabry participants irrespective of treatment status or type of treatment.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The FOS registry is open to participants with Fabry disease irrespective of their treatment. Participants may be untreated, currently treated or have been previously treated with Replagal, or any other approved treatment for Fabry disease. There is no predetermined sample size.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Shire: lead

Study Sites (1)

Shire

Lexington, Massachusetts, 02421, United States

Location

Related Publications (5)

• Revel-Vilk S, Ramaswami U, Pintos-Morell G, Hughes D, Nicholls K, Reisin R, Giugliani R, Goker-Alpan O, Istaiti M, Gill A, Scarpa M, Botha J. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys. Orphanet J Rare Dis. 2025 Mar 28;20(1):145. doi: 10.1186/s13023-024-03416-2.

  PMID: 40155993 DERIVED

• Beck M, Ramaswami U, Hernberg-Stahl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9.

  PMID: 35725623 DERIVED

• Feriozzi S, Linhart A, Ramaswami U, Kalampoki V, Gurevich A, Hughes D; Fabry Outcome Survey Study Group. Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey Study. Clin Ther. 2020 Dec;42(12):2321-2330.e0. doi: 10.1016/j.clinthera.2020.10.007. Epub 2020 Nov 17.

  PMID: 33218740 DERIVED

• Parini R, Pintos-Morell G, Hennermann JB, Hsu TR, Karabul N, Kalampoki V, Gurevich A, Ramaswami U; FOS Study Group. Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age. Drug Des Devel Ther. 2020 Jun 3;14:2149-2158. doi: 10.2147/DDDT.S249433. eCollection 2020.

  PMID: 32581513 DERIVED

• Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, Giugliani R; FOS Study Group. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis. Drug Des Devel Ther. 2019 Oct 25;13:3705-3715. doi: 10.2147/DDDT.S207856. eCollection 2019.

  PMID: 31749608 DERIVED

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Study Director

  Shire

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 17, 2017
• First Posted: September 20, 2017
• Study Start: April 1, 2001
• Primary Completion: September 30, 2021
• Study Completion: September 30, 2021
• Last Updated: November 16, 2021

Record last verified: 2021-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/. For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.

Locations

US (1)