Clinical trial NCT04511806: Childhood Cancer Predisposition Study (CCPS)
Official title: Childhood Cancer Predisposition Study (CCPS)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pediatric Cancer
Keywords: Cancer predisposition
Lead sponsor: Emory University
Sponsor class: OTHER
First posted: 2020-08-13
Enrollment: 1050
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief summary: 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).

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Establish and maintain a framework for recruitment, participation, and surveillance of children with cancer predisposition syndromes (CPS) in clinical and translational research studies.
timeFrame: Up to 10 years
measure: Define the natural history of disease in children with CPS.
timeFrame: Up to 10 years
measure: Evaluate the clinical impact and effectiveness of standard and emerging tumor surveillance strategies.
timeFrame: Up to 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta (CHOA)
state: Georgia
city: Boston
country: United States
facility: Dana Farber Cancer Institute
state: Massachusetts
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Memphis
country: United States
facility: St. Jude Children's Research Hospital
state: Tennessee
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Salt Lake City
country: United States
facility: Primary Children's Hospital
state: Utah
city: Toronto
country: Canada
facility: Hospital for Sick Children
state: Ontario
Study officials:
affiliation: Emory University
name: Christopher Porter, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: The Hospital for Sick Children
name: Anita Villani, MD
role: PRINCIPAL_INVESTIGATOR
References: