Clinical trial NCT02969200: Fabry: Renal Function During Long-term ERT by 51Cr-EDTA Clearance
Official title: Fabry Disease: Renal Function During Long-term Enzyme Replacement Therapy Evaluated by Gold Standard GFR 51Cr-EDTA Clearance
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Fabry Disease
Nephropathy
Measured GFR
Enzyme replacement therapy
Lead sponsor: Rigshospitalet, Denmark
Sponsor class: OTHER
First posted: 2016-11-21
Enrollment: 52
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Fabry disease

Brief summary: The aim of this study was to investigate renal function decline by measured glomerular filtration rate (mGFR) in patients with FD during enzyme replacement therapy, and to explore the influence of age on renal function in FD.

Detailed description: Nephropathy is common in Fabry disease (FD). Renal function decline is often the first sign of major organ involvement, sometimes progressing to end-stage renal failure. Available studies of renal function during enzyme replacement therapy have shown inconsistent results, and are based on different composition of patient materials and follow-up time.

Most investigations have used estimated glomerular filtration rate (eGFR) for evaluating renal function. GFR is an important indicator of renal function. eGFR based on a serum creatinine measurement is most commonly used in FD. However, this method has been shown to be unreliable, as serum creatinine levels are influenced by other factors than renal function such as ethnic group, muscle mass, age, hydration and diet. Performance of eGFR in detecting minor changes in renal function is poor. A 10 year old review on renal function evaluation in patients with FD recommended the use of GFR based on an exogenous marker, e.g. Cr-EDTA. Nevertheless, only few studies have used mGFR for evaluation of renal function and to our knowledge, the present study is the first to describe the rate of renal function decline with consecutive mGFR values in a nationwide population of patients with FD.

Renal function declines with age in renal healthy individuals. To our knowledge, the present study is the first to age-standardize renal function in patients with FD to adjust for age-dependent renal deterioration.

Eligibility criteria: Inclusion Criteria:

* Genetically and/or enzymatically verified Fabry disease

Exclusion Criteria:

* End-stage renal disease prior to baseline (GFR \<15 ml/min/1.73m2, dialysis or renal transplant)
* Patient has not received enzyme replacement therapy during follow-up
* Patient has had less than 3 measurement of GFR during follow-up

Primary outcomes:
measure: measured glomerular filtration rate
timeFrame: Assessed every 6-12 months; from baseline and up to 15 years
Secondary outcomes:
measure: urinary protein excretion
timeFrame: Assessed every 6-12 months; from baseline and up to 15 years
Other outcomes:
Locations:
city: Copenhagen
country: Denmark
facility: National University Hospital, Department of Medical Endocrinology
Study officials:
affiliation: Department of Medical Endocrinology, Copenhagen University Hospital, Rigshospitalet
name: Ulla V Feldt-Rasmussen, MD, DMSc
role: PRINCIPAL_INVESTIGATOR
References: