Somatic Mosaicism in Twins Discordant for Childhood Cancer

Central Nervous System Tumor Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06054295
• Other study ID #: AEPI22N2
• Status: Recruiting
• Start date: June 3, 2024
• Est. completion date: December 31, 2025

Study information

• Verified date: June 2024
• Source: Children's Oncology Group
• Contact: Jenny Poynter, PhD
• Phone: (612) 625-4232
• Email: poynt006[@]umn.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: December 31, 2025
• Est. primary completion date: October 5, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Central Nervous System Neoplasms
• Central Nervous System Tumor
• Nervous System Neoplasms
• Pediatric Central Nervous System Tumor
• Somatic Mutation

Intervention

Other:
• Biospecimen collection
Collection of both blood and saliva samples from participants at the time of study enrollment
• Questionnaire Administration
The brief questionnaire will assess health history, demographics, environmental exposures, family history of cancer, and birth characteristics.

Locations

Country	Name	City	State
United States	University of Minnesota	Minneapolis	Minnesota

Sponsors (2)

Lead Sponsor	Collaborator
Children's Oncology Group	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Compare the profile of mutations detected in DNA extracted from pre- and post-treatment blood samples from a subset of CNS tumor patients.	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	Up to 18 months