PUER ("Previously Unrecognized Emerging Risks") Life Clinical Study (PUER) in Ages 6 Through 18

A Prospective, Non-Randomized, Multi-Center Observational Study to Establish a Physical Baseline Profile for Individual Study Subjects Using Various Modalities and Identify Deviations Via Longitudinal Monitoring for Participants Ages 6 Through 18

The goal of this observational study is to learn about changes in health in children that develop over time that may impact overall health and a healthy lifespan. The main questions it aims to answer are:

• What are the changes in health that impact overall health and lifespan in children; and
• What test(s) are best at finding changes in health in children?

Study Overview

• Status: Enrolling by invitation
• Conditions: Aging
• Intervention / Treatment: Genetic: Whole Genome Sequencing Analysis

Detailed Description

The two parts of the PUER Research study include (1) Baseline health assessment and (2) blood tests including genetic, molecular, and laboratory profiling. The Baseline assessment will consist of a health history questionnaire interview. Genetic assessment will be conducted using peripheral blood samples. Molecular and laboratory assessments will be conducted using peripheral blood samples and, potentially, urine, stool, and/or saliva samples.

The study will result in cross-sectional and longitudinal real world data collection to inform if any tests used can inform of health changes for individuals and may predict long-term health outcomes. Researchers at study sites will not be blinded to the data being collected during this study.

• Study Type: Observational
• Enrollment (Estimated): 10000

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30350
      • Puer Research, LLC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Male or non-pregnant female; age 6 to less than 18.

Description

Inclusion Criteria:

To participate in the study, patients must meet the following criteria:

1. Male or non-pregnant female; age 6 to less than 18.
2. Females of childbearing potential (WOCBP) must have a negative urine pregnancy test (UPT) at all visits.

3. Presence of

   1. At least one pathogenic genetic variant in a biological parent, which is annotated as pathogenic in at least one public database, such as dbSNP, ClinVar, VEP (variant effect predictor), etc.; OR
   2. Presence of unexplained disease, illness, trait, or phenotype.
4. Approval is at the sole discretion of the sponsor.

Exclusion Criteria:

Patients who meet any of the following criteria will be excluded from study participation:

1. Unwillingness or inability to participate in the study.
2. Unwillingness or inability to provide assent as per inclusion criterion #1, including those who lack the capacity to provide assent and will obtain 18 years of age prior to completion of the study.
3. WOCBP a with positive pregnancy test at enrollment or at any visit.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
New deviations: 12 months	The number of new deviations from a study subject's baseline profile 12 months after enrollment that were previously not known at time of enrollment.	12 months
New deviations: 6 months	The number of new deviations, not known at the time of enrollment, at 6 months after enrollment.	6 months
New deviations: 18 months	The number of new deviations, not known at the time of enrollment, at 18 months after enrollment.	18 months
New deviations: 24 months	The number of new deviations, not known at the time of enrollment, at 24 months after enrollment.	24 months
New deviations: 36 months	The number of new deviations, not known at the time of enrollment, at 36 months after enrollment.	36 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Medications	The number and change in the number of medications taken by an individual at 6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.	6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.
Dietary supplements	The number and change in the number of dietary supplements taken by an individual at 6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.	6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.

Collaborators and Investigators

• Sponsor: Puer Research, LLC
• Investigators: Principal Investigator: Szilard Voros, MD, Principal Investigator

Publications and helpful links

General Publications

• Schork NJ. Personalized medicine: Time for one-person trials. Nature. 2015 Apr 30;520(7549):609-11. doi: 10.1038/520609a. No abstract available.
• Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.
• Bromberg Y. Building a genome analysis pipeline to predict disease risk and prevent disease. J Mol Biol. 2013 Nov 1;425(21):3993-4005. doi: 10.1016/j.jmb.2013.07.038. Epub 2013 Aug 5.
• Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.
• Han X, Aslanian A, Yates JR 3rd. Mass spectrometry for proteomics. Curr Opin Chem Biol. 2008 Oct;12(5):483-90. doi: 10.1016/j.cbpa.2008.07.024.
• Scaria V. Personal genomes, participatory genomics and the anonymity-privacy conundrum. J Genet. 2014 Dec;93(3):917-20. doi: 10.1007/s12041-014-0451-3. No abstract available.

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2025
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: January 25, 2025
• First Submitted That Met QC Criteria: January 25, 2025
• First Posted (Actual): January 30, 2025

Study Record Updates

• Last Update Posted (Actual): August 7, 2025
• Last Update Submitted That Met QC Criteria: August 4, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: Aging
• Other Study ID Numbers: PLI002

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No