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

NCT ID: NCT06802029

Last Updated: 2025-08-07

Basic Information

• Recruitment Status: ENROLLING_BY_INVITATION
• Total Enrollment: 10000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-09-01
• Study Completion Date: 2030-12-31

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?

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.

Conditions

Aging

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Interventions

Whole Genome Sequencing Analysis

Laboratory blood analysis

Intervention Type: GENETIC

Eligibility Criteria

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.

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Puer Research, LLC

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Szilard Voros, MD

Role: PRINCIPAL_INVESTIGATOR

Principal Investigator

Locations

Puer Research, LLC

Atlanta, Georgia, United States

Countries

United States

References

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.

Reference Type: BACKGROUND

PMID: 25637381 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 23928561 (View on PubMed)

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.

Reference Type: BACKGROUND

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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.

Reference Type: BACKGROUND

PMID: 18718552 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 25572254 (View on PubMed)

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

Reference Type: BACKGROUND

PMID: 25925459 (View on PubMed)

Other Identifiers

PLI002

Identifier Type: -

Identifier Source: org_study_id