Somatic Mosaicism in Twins Discordant for Childhood Cancer

NCT06054295 | Recruiting

• 1 other identifier: AEPI22N2
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

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

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

  Up to 18 months

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.

  Up to 18 months

Study Arms (1)

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.

Other: Biospecimen collection; Other: Questionnaire Administration

Interventions

Biospecimen collection OTHER

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

Ancillary-Correlative

Questionnaire Administration OTHER

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

Ancillary-Correlative

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Newly diagnosed same sex twins with pediatric central nervous system (CNS) tumors

You may qualify if:

• 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.

Sponsors & Collaborators

• Children's Oncology Group: lead
• National Cancer Institute (NCI): collaborator

Study Sites (1)

University of Minnesota

Minneapolis, Minnesota, 55455, United States

RECRUITING

MeSH Terms

Conditions

Central Nervous System Neoplasms

Condition Hierarchy (Ancestors)

Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Nervous System Diseases

Study Officials

• Jenny Poynter, PhD

  University of Minnesota

  STUDY CHAIR

Central Study Contacts

Jenny Poynter, PhD

CONTACT

(612) 625-4232; poynt006@umn.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2023
• First Posted: September 26, 2023
• Study Start: June 3, 2024
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2027
• Last Updated: December 16, 2025

Record last verified: 2025-12

Locations

US (1)