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Abstract: TH-PO379

Design of a Prospective Observational Study of Patients With Rare Kidney Diseases

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic

Authors

  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Taylor, Abbigail, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Robins, Victoria C., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Martin, Lauren, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Williams, Adrienne H., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, United States
Background

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare disease,with less than 2,000 patients identified. Obtaining prospective data on rare diseases is difficult due to small numbers of patients, a wide geographic distribution, and limited funding. We describe the use of the REDCap data system to develop a biorepository, send automated emails, and establish longterm follow-up. Here we present results at one year.

Methods

At baseline, we collect serum/urine for biomarkers, serum creatinine, and initial survey, including BP, medications, diet history. Serum creatinine is measured at a commercial laboratory or by participant's physician. Quarterly visits are paired with a short survey. There is a nested cohort study of pregnancy or SGLT2 inhibitor use. A secure REDCap project was designed to capture data. After the initial visit, the REDCap program sends email reminders for quarterly laboratory visits and survey.

Results

Recruitment began in March 2021, with current enrollment 145 (Table). We have collected 478 serum creatinine measurements from 132 patients with paired survey data. We have 87 patients who have completed Visit 1 (4 months), 60 who have completed Visit 2 (8 months) and 24 who have completed Visit 3 (12 months). 15 patients missed one quarterly visit, 6 missed 2, and one missed 3. Phone call reminders have been needed for approximately 35 patients.

Conclusion

Automation of data collection decreases study team manpower and is highly effective. Longer term follow-up is required to see if attrition develops. We believe this system could be employed for other rare kidney diseases.

Study Participants
 ADTKD-MUC1ADTKD-UMOD
Consented (n)6778
Male n (%)25 (38%)27 (35%)
Age (y)44±1543±13
Non-smoker (n (%))64(95%)78(100%)
Vegetarian or Vegan (n (%))1 (2%)3 (4%)
BMI 25±4.526±6
Systolic BP 124±12122±12
Diastolic BP80±1178±9
eGFR >60 (n (%))17 (25%)21 (26%)
eGFR 30 to <60 (n (%))31(51%)28 (49%)
eGFR <30 (n (%))16 (24%)11
SGLT2i Nested Cohort (n)1211
Pregnancy nested cohort (n)52

Funding

  • Private Foundation Support