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Fabry: Renal Function During Long-term ERT by 51Cr-EDTA Clearance

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ClinicalTrials.gov Identifier: NCT02969200
Recruitment Status : Completed
First Posted : November 21, 2016
Last Update Posted : October 16, 2018
Information provided by (Responsible Party):
Ulla Feldt-Rasmussen, Rigshospitalet, Denmark

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.

Condition or disease Intervention/treatment
Fabry Disease Drug: Enzyme replacement therapy

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.

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Study Type : Observational
Actual Enrollment : 52 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Fabry Disease: Renal Function During Long-term Enzyme Replacement Therapy Evaluated by Gold Standard GFR 51Cr-EDTA Clearance
Study Start Date : April 2015
Actual Primary Completion Date : September 2016
Actual Study Completion Date : December 9, 2016

Intervention Details:
  • Drug: Enzyme replacement therapy
    All patients included in the study have received enzyme replacement therapy with either agalsidase alfa and/or agalsidase beta
    Other Names:
    • Fabrazyme (agalsidase beta)
    • Replagal (agalsidase alfa)

Primary Outcome Measures :
  1. measured glomerular filtration rate [ Time Frame: Assessed every 6-12 months; from baseline and up to 15 years ]
    GFR was measured at least once a year by the one sample 51Cr-ethylenendiaminetetra acetic acid (EDTA) clearance technique using two (for duplicate determination) plasma samples 200 min after the injection of 4 (3.8-4.2) MBq 51Cr-EDTA. In children (< 15y) the injected 51Cr-activity was 3 MBq, and the blood-samples were collected 120 min after radiotracer injection. (< 5y: 2 MBq).

Secondary Outcome Measures :
  1. urinary protein excretion [ Time Frame: Assessed every 6-12 months; from baseline and up to 15 years ]
    Repeated twenty-four hour urine samples were collected by patients at home, the last 24 hours before coming to the hospital. These samples were analysed for albumin, creatinine and protein. Furthermore spot urine samples were applied and analysed for albumin, creatinine and protein. Albumin-creatinine-ratio was calculated and abnormal values were defined as > 30 mg/g. Urine protein- and albumin values below detection limit (< 0.04 g/L and < 3 mg/L, respectively) were converted to zero for statistical analyses.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Fabry disease

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02969200

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National University Hospital, Department of Medical Endocrinology
Copenhagen, Denmark, DK-2100
Sponsors and Collaborators
Ulla Feldt-Rasmussen
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Principal Investigator: Ulla V Feldt-Rasmussen, MD, DMSc Department of Medical Endocrinology, Copenhagen University Hospital, Rigshospitalet
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Responsible Party: Ulla Feldt-Rasmussen, Professor, Chief physician, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT02969200    
Other Study ID Numbers: FAB-KIDNEY
First Posted: November 21, 2016    Key Record Dates
Last Update Posted: October 16, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Ulla Feldt-Rasmussen, Rigshospitalet, Denmark:
Fabry Disease
Measured GFR
Enzyme replacement therapy
Additional relevant MeSH terms:
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Fabry Disease
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
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders