Fabry Outcome Survey (FOS)

Conditions

Fabry Disease

Keywords

Genetic, Fabry Disease, Glycolipid, lysosomal

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.

Hughes DA, Pintos-Morell G, Kampmann C, Anagnostopoulou C, Botha J, Jain S, Nicholls K, Niu DM, Reisin R, West ML, Schenk J, Ramaswami U, Giugliani R.

2025-11-06

10.1111/eci.70142

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Shoshana Revel‐Vilk, Uma Ramaswami, Guillem Pintos‐Morell, Derralynn Hughes, Kathy Nicholls et al. (12 authors)

Orphanet Journal of Rare Diseases2025-03-282 citations

10.1186/s13023-024-03416-2

The value of registries in the study of rare diseases: Fabry Outcome Survey

E. Tao, A. Moiseev, N. Bulanov, Sergey Moiseev

Clinical pharmacology and therapy2023-09-02

10.32756/0869-5490-2023-3-56-62

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

Beck M, Ramaswami U, Hernberg-Ståhl 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.

2022-06-2047 citations

10.1186/s13023-022-02392-9

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

Sandro Feriozzi, Aleš Linhart, Uma Ramaswami, Vasiliki Kalampoki, Andrey Gurevich et al. (6 authors)

Clinical Therapeutics2020-11-1730 citations

10.1016/j.clinthera.2020.10.007

<p>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</p>

Rossella Parini, Guillem Pintos‐Morell, Julia B. Hennermann, Ting‐Rong Hsu, Nesrin Karabul et al. (8 authors)

Drug Design Development and Therapy2020-06-0149 citations

10.2147/dddt.s249433

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.

Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, Giugliani R, FOS Study Group.

2019-10-2533 citations

10.2147/dddt.s207856

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

No

Inclusion criteria

1. 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. 2. 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

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

Design outcomes

Primary

Measure	Time frame	Description
Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)	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.
Number of Participants With Infusion-related Reactions (IRRs)	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.
Renal Function by Estimated Glomerular Filtration Rate (eGFR)	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).
Left Ventricular Mass Index (LVMI)	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.
Age at Mortality Event (survival)	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)
Time to First Morbidity Event	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.
Age at First Morbidity Event	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.

Countries

United States

Outcome results