Childhood Cancer Predisposition Study (CCPS) (CCPS)

The Childhood Cancer Predisposition Study (CCPS) is a multi-center, longitudinal, observational study that will collect clinical and biological data and specimens from children with a cancer predisposition syndromes (CPS) and their relatives.

The central hypothesis is that studying individuals at high risk for childhood cancer creates a unique opportunity for improving the understanding of carcinogenesis, tumor surveillance, early detection, and cancer prevention, which will collectively contribute to improving care and outcomes for pediatric patients with cancer and those with cancer predisposition syndromes (CPS).

Study Overview

• Status: Recruiting
• Conditions: Pediatric Cancer
• Intervention / Treatment: Other: Registry

Detailed Description

The CCPS is designed as a multi-center, longitudinal, observational study that will collect clinical and biological data and specimens from children with a CPS and their relatives. The investigators plan to:

1. Establish and maintain a framework for recruitment, participation, and surveillance of children with cancer predisposition syndromes (CPS) in clinical and translational research studies;
2. Define the natural history of disease in children with CPS; and
3. Evaluate the clinical impact and effectiveness of standard and emerging tumor surveillance strategies.

The study will enroll approximately 350 Children and 700 Relatives per year. The investigators plan to collect demographic and diagnostic data at enrollment. Longitudinal follow-up will be performed at least annually.

The CCPS includes the establishment of a biorepository, with a hub and spoke structure, with a central repository at Emory University/Children's Healthcare of Atlanta for prospective collection of some tissues, linked to local biorepositories at participating institutions. Information about inventory of tumor specimens already banked locally will be available in the database, along with reference to existing genomic studies of the tumor, such that investigators may identify and request such tissue or data for specific studies, subject to approval of the CCPS Scientific Committee.

• Study Type: Observational
• Enrollment (Estimated): 1050

Contacts and Locations

• Study Contact: Name: Christopher Porter, MD; Phone Number: 4047274881; Email: chris.porter@emory.edu

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada
      • Recruiting
      • Hospital for Sick Children
      • Contact: Anita Villani, MD; Email: anita.villani@sickkids.ca
• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • Children's Healthcare of Atlanta (CHOA)
      • Contact: Christopher Porter, MD; Phone Number: 404-727-4881; Email: chris.porter@emory.edu
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Recruiting
      • Dana Farber Cancer Institute
      • Contact: Lisa Diller, MD; Email: lisa_diller@dfci.harvard.edu
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia
      • Contact: Garrett Brodeur, MD; Email: brodeur@email.chop.edu
  • Tennessee
    • Memphis, Tennessee, United States, 38105-3678
      • Recruiting
      • St. Jude Children's Research Hospital
      • Contact: Kim Nichols, MD; Email: kim.nichols@stjude.org
  • Texas
    • Houston, Texas, United States, 77030
      • Recruiting
      • Baylor College of Medicine
      • Contact: Surya Rednam, MD; Email: sprednam@texaschildrens.org
  • Utah
    • Salt Lake City, Utah, United States, 84113
      • Recruiting
      • Primary Children's Hospital
      • Contact: Joshua Schiffman, MD; Email: joshua.schiffman@hci.utah.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The Primary Subjects of this study are children (age 0-21) with a CPS. Members of their Primary Family Unit will also be recruited for this study, including CPS-Affected Parents, Unaffected Parents and Siblings. Other adult family members (with documented or obligate CPS) are also eligible to enroll as Affected Family Members.

Description

Inclusion Criteria:

Primary Subjects must meet all of the below criteria to be eligible for enrollment:

1. Be less than 21 years of age at the time of enrollment

2. Have a diagnosis of a specific CPS, whether they have had cancer or not

   • Based on clinical laboratory testing demonstrating a Pathogenic or Likely Pathogenic germline variant and/or
   • Based on well-established clinical diagnostic criteria and/or
   • Based on high clinical suspicion of a specific CPS with clinical laboratory testing demonstrating a variant of uncertain significance (VUS)

Affected Parents must meet all of the following criteria to be eligible for enrollment:

1. Be the biologic parent of a Primary Subject and
2. Carry a diagnosis (or obligate diagnosis) of the familial CPS

Adult Affected Siblings must meet all of the following criteria to be eligible for enrollment:

1. Be the biologic sibling of a Primary Subject and
2. Carry a diagnosis (or obligate diagnosis) of the familial CPS

Unaffected Parents and Siblings must meet all of the following criteria to be eligible for enrollment

1. Be the biologic parent or sibling of a Primary Subject and
2. Not carry a diagnosis (or obligate diagnosis) of the familial CPS

Affected Family Members must meet all of the following criteria to be eligible for enrollment:

1. Carry a diagnosis of (or obligate diagnosis of) the familial CPS. Documentation is requested but not required.

More than one child from a Primary Family Unit may be a Primary Subject. An Unaffected Sibling may be reclassified as a Primary Subject if diagnosed with a CPS during childhood.

Exclusion Criteria:

• Individuals with a strong personal or family history of cancer without a genetic or clinical diagnosis of a specific CPS are not eligible for enrollment.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Primary Subjects; Children (age 0-21) with a cancer predisposition syndromes (CPS).	Other: Registry; This prospective registry and biorepository will collect clinical data and specimens for research in childhood cancer predisposition.
Relatives of Children with CPS; Members of their Primary Family Unit will also be recruited for this study, including CPS-Affected Parents, Unaffected Parents and Siblings. Other adult family members (with documented or obligate CPS) are also eligible to enroll as Affected Family Members.	Other: Registry; This prospective registry and biorepository will collect clinical data and specimens for research in childhood cancer predisposition.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establish and maintain a framework for recruitment, participation, and surveillance of children with cancer predisposition syndromes (CPS) in clinical and translational research studies.	This multicenter registry and biorepository will be developed with the purpose of studying individuals at high risk for childhood cancer to improve care and outcomes for pediatric patients with cancer and those with cancer predisposition syndromes (CPS).	Up to 10 years
Define the natural history of disease in children with CPS.	To define the natural history of disease in children with CPS.	Up to 10 years
Evaluate the clinical impact and effectiveness of standard and emerging tumor surveillance strategies.	Evaluate the clinical impact and effectiveness of standard and emerging tumor surveillance strategies to improve care and outcomes for pediatric patients with cancer and those with cancer predisposition syndromes (CPS).	Up to 10 years

Collaborators and Investigators

• Sponsor: Emory University
• Investigators: Principal Investigator: Christopher Porter, MD, Emory University; Principal Investigator: Anita Villani, MD, The Hospital for Sick Children

Study record dates

Study Major Dates

• Study Start (Actual): April 22, 2021
• Primary Completion (Estimated): October 1, 2030
• Study Completion (Estimated): October 1, 2030

Study Registration Dates

• First Submitted: August 11, 2020
• First Submitted That Met QC Criteria: August 11, 2020
• First Posted (Actual): August 13, 2020

Study Record Updates

• Last Update Posted (Estimated): October 29, 2025
• Last Update Submitted That Met QC Criteria: October 27, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: Cancer predisposition
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Neoplasms; Organization and Administration; Health Services Administration; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Records; Registries
• Other Study ID Numbers: STUDY00000109; C3P-001 (Other Identifier: Consortium for Childhood Cancer Predisposition)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified, individual participant data reported in publications
• IPD Sharing Time Frame: Beginning 3 months and ending 5 years following article publication.
• IPD Sharing Access Criteria: Researchers who provide a methodologically sound proposal, to achieve the aims in the approved proposal; Proposals should be directed to chris.porter@emory.edu. Requests will be reviewed by the study committee. Access to data will require a data access agreement.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF; ANALYTIC_CODE

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No