End Stage Renal Disease, ESRD, Fabry Disease, Genetic Diseases, X-Linked, Kidney Diseases, Rare Diseases
Conditions
Keywords
Hemodialysis, Kidney, Dialysis, Kindred, Fabry, Massachusetts General Hospital
Brief summary
In this study, Investigators will conduct a prospective cohort study of dialysis patients by collecting research-quality information on patient characteristics, comorbid diseases and laboratory markers used in routine practice, as well as novel biochemical markers and genetic data. Investigators will utilize data from the cohort to test the independent relationship between biochemical and genetic markers and Fabry disease and other rare diseases.
Detailed description
KINDRED is a prospective observational cohort study that will enroll up to 5,000 dialysis patients throughout the United States with and without known diagnosis of Fabry disease but at risk for Fabry disease (e.g., unknown cause of renal disease, young male, initiating dialysis without a kidney biopsy, etc).This tissue repository will allow for genetic screening of a geographically diverse population, assist in identification of rare diseases in ESRD, and collect research-quality information on risk factors and outcomes from an ethnically heterogeneous population of dialysis patients. In this study, Investigators will use a novel method of performing research in this population by leveraging the internet to enhance and accelerate recruitment of potential subjects to participate in a genetic screening/tissue repository protocol.
Interventions
None listed
Sponsors
Genzyme, a Sanofi Company
Scott and White Hospital & Clinic
Massachusetts General Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Adults between 18 and 65 with ESRD undergoing dialysis.
Exclusion criteria
* Kidney biopsy unlikely to be Fabry disease; those with a diagnosis that is clinically or biochemically proven not to be Fabry disease.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genetically determined Fabry disease prevalence amongst a heterogenous patient population with end-stage renal disease on dialysis in the US not previously known to have Fabry disease. | 5 years |
Secondary
| Measure | Time frame |
|---|---|
| Differences in patient characteristics of dialysis patients diagnosed with Fabry disease vs. dialysis patients who do not have Fabry disease. | 5 years |
| Differences in patient characteristics of individuals diagnosed with Fabry disease initiating dialysis after 2013 vs. patients with Fabry disease who started dialysis before 2003. | 5 years |
Countries
United States
Outcome results
None listed