Somatic Mosaicism in Twins Discordant for Childhood Cancer

NCT ID: NCT06054295

Last Updated: 2025-12-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-06-03

Study Completion Date

2027-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Pediatric Central Nervous System Tumor Central Nervous System Tumor Discordant Twin Somatic Mutation

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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Ancillary-Correlative

Twins with CNS tumors, identified through the Children's Oncology Group's Project:EveryChild (PEC) registry, will have both blood and saliva samples collected at the time of study enrollment.

Biospecimen collection

Intervention Type OTHER

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

Questionnaire Administration

Intervention Type OTHER

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

Interventions

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Biospecimen collection

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

Intervention Type OTHER

Questionnaire Administration

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

Intervention Type OTHER

Eligibility Criteria

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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.
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Cancer Institute (NCI)

NIH

Sponsor Role collaborator

Children's Oncology Group

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jenny Poynter, PhD

Role: STUDY_CHAIR

University of Minnesota

Locations

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University of Minnesota

Minneapolis, Minnesota, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jenny Poynter, PhD

Role: CONTACT

(612) 625-4232

Facility Contacts

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Jenny Poynter, PhD

Role: primary

612-625-4232

Other Identifiers

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AEPI22N2

Identifier Type: -

Identifier Source: org_study_id