Clinical trial NCT03289065: Fabry Outcome Survey (FOS)
Official title: Fabry Outcome Survey (FOS)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Genetic
Fabry Disease
Glycolipid
lysosomal
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2017-09-20
Enrollment: 4000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)
timeFrame: Baseline to year 20
measure: Number of Participants With Infusion-related Reactions (IRRs)
timeFrame: Baseline to year 20
measure: Renal Function by Estimated Glomerular Filtration Rate (eGFR)
timeFrame: Baseline to year 20
measure: Left Ventricular Mass Index (LVMI)
timeFrame: Baseline to year 20
measure: Age at Mortality Event (survival)
timeFrame: Baseline to year 20
measure: Time to First Morbidity Event
timeFrame: Baseline to year 20
measure: Age at First Morbidity Event
timeFrame: Baseline to year 20
Secondary outcomes:
Other outcomes:
Locations:
city: Lexington
country: United States
facility: Shire
state: Massachusetts
Study officials:
affiliation: Shire
name: Study Director
role: STUDY_DIRECTOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.