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Enrolling by invitation NCT06802029

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

— Observational Aging

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Whole Genome Sequencing Analysis.
Who it may be relevant to
Registry conditions: Aging. Basic parameters: 6 years — 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

Interventions

  • Genetic Whole Genome Sequencing Analysis
    Laboratory blood analysis

Primary outcome measures

  • New deviations: 12 months [Time frame: 12 months]
  • New deviations: 6 months [Time frame: 6 months]
  • New deviations: 18 months [Time frame: 18 months]
  • New deviations: 24 months [Time frame: 24 months]
  • New deviations: 36 months [Time frame: 36 months]

Eligibility criteria

Inclusion criteria

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.

Exclusion criteria

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

  • Unwillingness or inability to participate in the study.
  • 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.
  • WOCBP a with positive pregnancy test at enrollment or at any visit.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Study design

Observational model
Case-only

Study locations

United States · 1 center
  • Puer Research, LLC — Atlanta

Publications

  • 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, PMID 25637381
  • 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
  • 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 inciden PMID 24055113
  • 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
  • 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
  • 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

Identifiers

NCT: NCT06802029 · PLI002

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗