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

NCT06802029 | Enrolling By Invitation DMC

• 1 other identifier: PLI002
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

Brief Summary

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?

Conditions

Aging

Keywords

Aging

Outcome Measures

Primary Outcomes (5)

• 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 Outcomes (2)

• Medications

  6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.

• Dietary supplements

  6 months, 12 months, 18 months, 24 months, and 36 months after enrollment.

Interventions

Whole Genome Sequencing Analysis GENETIC

Laboratory blood analysis

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• To participate in the study, patients must meet the following criteria:
• Male or non-pregnant female; age 6 to less than 18.
• Females of childbearing potential (WOCBP) must have a negative urine pregnancy test (UPT) at all visits.
• Presence of
• 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
• Presence of unexplained disease, illness, trait, or phenotype.
• Approval is at the sole discretion of the sponsor.

You may not qualify if:

• Patients who meet any of the following criteria will be excluded from study participation:
• Unwillingness or inability to participate in the study.
• WOCBP a with positive pregnancy test at enrollment or at any visit.

Sponsors & Collaborators

• Puer Research, LLC: lead

Study Sites (1)

Puer Research, LLC

Atlanta, Georgia, 30350, United States

Location

Related Publications (6)

• 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.

  PMID: 25637381 BACKGROUND

• 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.

  PMID: 23928561 BACKGROUND

• 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.

  PMID: 24055113 BACKGROUND

• 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.

  PMID: 18718552 BACKGROUND

• 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.

  PMID: 25572254 BACKGROUND

• Schork NJ. Personalized medicine: Time for one-person trials. Nature. 2015 Apr 30;520(7549):609-11. doi: 10.1038/520609a. No abstract available.

  PMID: 25925459 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole Genome Sequencing Analysis

Study Officials

• Szilard Voros, MD

  Principal Investigator

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 25, 2025
• First Posted: January 30, 2025
• Study Start: September 1, 2025
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2030
• Last Updated: August 7, 2025

Record last verified: 2025-08

Locations

US (1)