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NCT Number: NCT06054295

Somatic Mosaicism in Twins Discordant for Childhood Cancer

Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date. This pilot study will focus on twins with central nervous system (CNS) tumors who are identified through the Children's Oncology Group's Project: EveryChild (PEC) registry or volunteer.

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Key information

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location status: Recruiting

Location contact

Jenny Poynter, PhD

CONTACT

[email protected]

612-625-4232

About this study

PRIMARY OBJECTIVES:

I. To conduct a descriptive study of same sex twins (MZ and DZ) discordant for childhood CNS tumors identified through the Children's Oncology Group Project:EveryChild registry.

II. To compare the prevalence of somatic mosaicism in classic cancer-associated genes in monozygotic (MZ) twins discordant for childhood brain tumors. In our pilot study, we will sequence blood and saliva DNA samples from 25 MZ twin pairs using a panel of 94 known cancer associated genes.

SECONDARY OBJECTIVES:

I. To compare the profile of mutations detected in DNA extracted from pre- and post-treatment blood samples from a subset of CNS tumor patients. The purpose of this aim is to ensure that differences in somatic mosaicism detected in twin pairs are not caused by cancer therapy.

Outline:

Twins with CNS tumors will undergo blood and saliva DNA samples with the goal is to learn more about genetic differences that may lead to CNS tumor development.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Newly diagnosed patient with CNS tumor or have recurrent disease and enrolled on APEC14B1.
  • Patient must have same sex twin. Note: (history of) treatment on a COG therapeutic trial is not required.
  • Patients must be diagnosed at < 19 years of age at the time of diagnosis.
  • A family is eligible to participate if the twin with the CNS tumor is deceased but has a blood sample banked through APEC14B1.
  • All patients and/or their parents or legal guardians must provide informed consent. Assent will be obtained for participants between the ages of 8-17 years.
  • All institutional, FDA, and NCI requirements for human studies must be met.

Treatment and study plan

Biospecimen Collection

Other

Collection of both blood and saliva samples from participants at the time of study enrollment

Questionnaire Administration

Other

The brief questionnaire will assess health history, demographics, environmental exposures, family history of cancer, and birth characteristics.

Primary outcomes

  1. Compare the prevalence of somatic mosaicism in classic cancer-associated genes in monozygotic (MZ) twins discordant for childhood brain tumors.

    Time frame: Up to 18 months

    Sequence blood and saliva DNA samples from 25 MZ twin pairs using a panel of 94 known cancer associated genes.

Secondary outcomes

  1. Compare the profile of mutations detected in DNA extracted from pre- and post-treatment blood samples from a subset of CNS tumor patients.

    Time frame: Up to 18 months

    Determine the frequency of somatic mosaicism in twins discordant for CNS tumors. Will use an exact test of proportions to determine whether the affected twin is more likely to have a mosaic mutation. The comparison of pre-treatment and post-treatment samples in the CNS tumor cases will include a descriptive comparison of the mutations identified in each sample

Study contacts

Contact information is provided by the study sponsor or research team.

Jenny Poynter, PhD

CONTACT

[email protected]

(612) 625-4232

Sponsors and collaborators

Lead sponsor

Children's Oncology Group

Network

Collaborators

  • National Cancer Institute (NCI)

Registry information

Official study title

Somatic Mosaicism in Twins Discordant for Childhood Cancer: a Pilot Study

Important dates

Study start
2024
Primary completion
2026
Study completion
2027
First posted
Sep 26, 2023
Registry last updated
Dec 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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