Pediatric Investigation for Genetic Factors Linked with Renal Disease Progression (PediGFR), version with Effect of Strict Blood Pressure Control and ACE Inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) Trial

This sub-study phs000844 ESCAPE contains genotype and selected phenotype of subjects available from the phs000844 study. Summary level phenotypes for the NIDDK PediGFR_v2 Cohort study participants can be viewed at the top-level study page phs000842 PediGFR_v2 Cohort. Individual level phenotype data and molecular data for all PediGFR_v2 Cohort top-level study and sub-study are available by requesting Authorized Access to the NIDDK PediGFR_v2 Cohort phs000842 study.

The Pediatric Investigation for Genetic Factors Associated with Renal Progression (PediGFR) (RO1-DK082394) is an international collaborative study among three large prospective cohort studies of children with chronic kidney disease. The participating parent cohort studies are the Chronic Kidney Disease in Children (CKiD), the Effect of Strict Blood Pressure Control and ACE Inhibition on CRF Progression in Pediatric Patients (ESCAPE), and the Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study. In these cohorts, pediatric subjects with CKD have been prospectively followed with standardized measurements for renal progression.

The current version of the upload includes the genotype and baseline phenotype for the ESCAPE Trial cohort. In brief the ESCAPE Trial is a prospective study on the effect of strict blood pressure control and ACE inhibition in children with chronic kidney disease (CKD) between the ages of 3 to 18 years of age and an estimated glomerular filtration rate (eGFR) by Schwartz equation between 15 and 75 ml/min per 1.73m².

• Study Design:
  • Prospective Longitudinal Cohort
• Study Type:
  • Cohort
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 309
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• BioSample
• MeSH

Inclusion/Exclusion Criteria for ESCAPE Trial:

Inclusion Criteria:

• Age 3-18 years
• Moderate state of renal failure (creatinine clearance 15 - 75 ml / min / 1.73 m²)
• Mean arterial blood pressure (ABPM) > 50.percentile and/or antihypertensive treatment
• Written informed consent

Exclusion Criteria:

• Unstable clinical condition (vomiting, anorexia, etc) or superimposed important disease
• Unilateral or bilateral renal artery stenosis
• Urological surgery possibly affecting renal function expected during study period
• Insufficient compliance with prescribed antihypertensive medication during the run-in period
• Secondary renal diseases such as lupus, amyloidosis and primary hyperoxaluria, and patients treated with immunosuppressive agents (including corticosteroids)
• Severe primary cardiac disease, hepatic insufficiency and malabsorption syndrome
• Erythropoietin or growth hormone therapy with a duration of less than 3 months prior to run-in period
• Pregnancy

The PediGFR utilized de-identified data from subjects who had consented for genetic testing, provided a sample of DNA, and who had data available for the renal trait phenotype as well and RBC trait and anemia phenotype. Exclusions from the total ESCAPE Trial cohort are those who did not provide genetic consent or subjects IDs whose genotyping did not pass quality control.

The PediGFR study is an international collaborative study designed to determine the gene loci associated with renal progression in children. Genotyping of the US-based CKiD cohort occurred prior to the genotyping of the European cohorts (ESCAPE and 4C). The genotyping and phenotyping data for CKiD cohort have been released by dbGap as the first wave of PediGFR data, which also include the anemia data of an ancillary study (K24DK078737) under PI Susan Furth, The Role of Genetic Variation in the Anemia of Chronic Kidney Disease, that utilized the genotyping data for CKiD. Subsequent dbGap upload will include the anemia data for the ESCAPE trial.

• Primary Phenotype: Kidney Diseases
• Renal Insufficiency
• Renal Insufficiency, Chronic

• Principal Investigator
  • Craig Wong MD MPH. University of New Mexico Health Sciences Center and UNM Children's Hospital, NM, USA.
• Co-Principal Investigator PediGFR and Principal Investigator for 4C and ESCAPE
  • Franz Schaefer, MD. Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Germany.
• Funding Source
  • R01DKO82394. National Institutes of Health, Bethesda, MD, USA.