NCI Childhood Cancer Data Initiative (CCDI) Led Pediatric, Adolescent, and Young Adult Rare Cancer Registry for Very Rare Solid Tumors

Background:

All childhood cancers are rare, but some are called very rare. Very rare cancers are diagnosed in 2 or fewer out of 1 million people each year. Researchers want to gather data so they can learn more about these very rare cancers. They hope to use the data to develop future treatments.

Objective:

To gather data for a registry of very rare cancers found in children, teens, and young adults.

Eligibility:

People aged 1 month to 39 years newly diagnosed (within the past year) with a very rare cancer.

Design:

Participation will be by phone or email. No clinic visits are required.

Researchers will look at the participant s medical records. They will ask for samples of tumor tissue that were already removed. They will use the samples for genetic testing. The results of these tests will be sent to the participant s own doctors.

Some participants will be asked for saliva or cheek swab samples. They will receive a kit in the mail. They will spit into a tube or swab the inside of their cheek. They will mail the sample back to the lab.

Participants will fill out questionnaires once a year for 5 years. They will answer questions about:

Family history, such as other cancers in the family and their income, work, and education.

Demographics, such as their gender, nationality, ethnicity, education, and work history.

Symptoms and treatment for their cancer. This may include level of pain, and emotional and physical well-being.

Participants data will be added to a secure database for other researchers. Their data will be anonymous.

Study Overview

• Status: Recruiting
• Conditions: Solid Tumor; Other Solid Tumors; Very Rare Tumors; Very Rare Cancers; Pediatric Rare Tumors
• Intervention / Treatment: Other: Natural history study of individuals with very rare tumors

Detailed Description

Background:

• Rare cancers are defined by the NCI as fewer than 15 incident cases per 100,000 people per year. Overall, pediatric tumors account for less than 1% of all cancers diagnosed in the United States (US) per year.
• The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) group has determined that the definition of very rare pediatric cancers is fewer than 2 cases per million per year and/or those not eligible for clinical trials.
• Frequently, for these very rare solid tumors and hematologic malignancies, little is known about their natural history, including clinical behavior, molecular/genetic characteristics, optimal management, drug response, and evidence-based standard therapy does not exist. Many patients endure the challenges of achieving an accurate and timely diagnosis, along with the difficulty of identifying a center with treatment expertise.
• Although several disease-specific pediatric and adult rare cancer efforts exist, they are frequently siloed without standardization across efforts; and, many rare cancers have not been systematically studied.

Objective:

-To establish a longitudinal observational study and registry for very rare pediatric and Adolescents and Young Adults (AYA) solid tumors

Eligibility:

-Pediatric, adolescent, or young adult participants (<= 39 years old at diagnosis) with very rare solid tumors

Design:

• This will be a longitudinal observational study and registry for children and AYAs with very rare cancers.
• Recruitment will be through 2 mechanisms, the Children s Oncology Group s (COG) Project EveryChild Protocol (APEC14B1, NCT02402244) and physician/self-referral.
• This study will be led by the NCI s CCDI and NCI s POB.
• Enrollment, including consent, distribution of family history/individual medical history/patient report outcome questionnaires, collection of medical records and tissue/saliva/buccal samples, and extraction of data, as well as longitudinal follow-up will be managed centrally.
• Tumor tissue and saliva/buccal samples will be run through the CCDI s Molecular Characterization Initiative (MCI) for comprehensive clinical molecular profiling. The remaining samples will be banked for research analyses. Research analysis will be per the CCDI research characterization pipeline.
• Since long-term follow-up of individuals with very rare cancers is a major feature of the study, we intend to maintain active contact with study participants for up to 5 years.
• Data will be deposited into the CCDI Data Ecosystem.

• Study Type: Observational
• Enrollment (Estimated): 4000

Contacts and Locations

• Study Contact: Name: Mary F Wedekind Malone, D.O.; Phone Number: (240) 858-3765; Email: maryfrances.wedekindmalone@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: National Cancer Institute Referral Office; Phone Number: 888-624-1937; Email: NCIMO_Referrals@mail.nih.gov

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

This is a longitudinal observational study and registry for children, adolescents and young adults (AYAs) with very rare cancers.

Description

• INCLUSION CRITERIA:
• History of newly diagnosed (within 1 year of diagnosis) very rare solid tumor (defined as an estimated 2 incident cases per million per year).
• Age >= 1 month and <= 39 years at the time of diagnosis.
• Participants must have established care with a local treating physician.
• Ability of the participant, parent/guardian, or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

• Diagnosis of any of the following at any time:

  • Ewing Sarcoma
  • Osteosarcoma
  • Rhabdomyosarcoma
  • Diffuse midline glioma (H3K27 altered)
  • Atypical teratoid rhabdoid tumor
  • Pleuropulmonary blastoma
  • Common adult cancers that occur in pediatric/AYA populations (i.e., colorectal cancer, breast cancer)
• The participant is unlikely to comply with the terms of the protocol.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

1/ Cohort 1; Participants with very rare tumors

Other: Natural history study of individuals with very rare tumors; We will collect information about the initial presentation and diagnosis of the disease, management, and tumor treatment history. Participants or parent/guardian will be asked to complete questionnaires and patient-reported outcome (PRO) instruments. Pathology materials (e.g., tissue samples, slides, or blocks) and saliva and/or buccal sample will be requested.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To establish a longitudinal observational study and registry for very rare pediatric and AYA solid tumors	Percentage of participants from identified recruitment sources will be tabulated and described. An analysis of the ability to adequately obtain medical records at initial evaluation and follow-up to perform medical data extraction, which is critical to establishing a registry and longitudinal observational study will be assessed.	Through 5 years after enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To evaluate the feasibility of PRO using validated reporting platforms suitable for pediatric and AYA populations	The percentage of participants who successfully complete longitudinal data collection will be described.	At time of enrollment/study entry, and 2 and 5 years after enrollment
To conduct comprehensive clinical molecular characterization, utilizing CCDI MCI	The percentage of participants who successfully provide required sample(s) and where correlative analyses are able to be performed will be described.	At time of enrollment/study entry

Collaborators and Investigators

• Sponsor: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Mary F Wedekind Malone, D.O., National Cancer Institute (NCI)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Estimated): May 27, 2026
• Primary Completion (Estimated): April 1, 2035
• Study Completion (Estimated): April 1, 2037

Study Registration Dates

• First Submitted: March 21, 2026
• First Submitted That Met QC Criteria: March 23, 2026
• First Posted (Actual): March 24, 2026

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 21, 2026
• Last Verified: March 31, 2026

More Information

Terms related to this study

• Keywords: Registry; Patient Reported Outcomes; Longitudinal Study; Family History; Molecular Characterization
• Other Study ID Numbers: 10002496; 002496-C

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: This study will comply with the NIH Data Management and Sharing (DMS) Policy as waived or approved by the Center for Cancer Research, which applies to all new and ongoing NIH-funded research in the IRP, as of January 25, 2023, that is associated with a ZIA, with a clinical protocol that undergoes scientific review and/or will involve genomic data sharing.
• IPD Sharing Time Frame: Data will be made available as soon as possible or at the time of associated publication. Data not published in a manuscript will be shared via public source once the data set completes QC.
• IPD Sharing Access Criteria: Clinical data will be made available upon request and with the permission of the study PI. Genomic data are made available via dbGAP through requests to the data custodians.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

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