Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors
- - INCLUSION CRITERIA: - Cohort 1: Participants with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year). There are no age restrictions beyond the neonatal period (4 weeks). OR -Cohort 2: Participants without a rare tumor who have a germline genetic variant that predisposes to a rare solid tumor OR -Cohort 3: Relatives of participants with diagnosis of rare solid tumors who do NOT have a known germline variant that predisposes to a rare solid tumor OR - Cohort 4: Parent/guardian of child participating in a focus group if not already enrolled on the study. - Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: None
Rare tumors are defined as fewer than 150 incident cases per one million per year.
Consequently, only 11 tumor types are common in U.S. adults (prostate, breast, lung/bronchus,
colon, uterus, bladder, melanoma, rectum, ovary, non-Hodgkin lymphoma, and kidney/renal
pelvis neoplasms) and will not be studied in this trial. One-quarter of all adults with tumor
have a rare tumor diagnosis.
All pediatric tumors meet this definition of rare affecting < 1% individuals younger than 20
years per year in the US.
Notably, there is a group of solid tumors that occur so infrequently in children and adults
that little is known about the natural history of these tumors, their clinical behavior,
molecular/genetic characteristics, optimal management, and drug response.
The NCI and the NIH Clinical Center infrastructure are uniquely suited to conduct studies of
rare tumors. There is a precedent in the NCI when even non-interventional studies or
initiatives were paradigm-changing. The NCI neurofibromatosis type 1 natural history study
allowed the development of groundbreaking interventional trials in participants with
plexiform neurofibromas. The Pediatric and Wild-Type Gastrointestinal Stromal Tumor (GIST)
Clinic, which involves intramural and extramural experts, not only provided the background
for discovery of the molecular features of a very rare disease such as succinate
dehydrogenase deficient GIST, but also was able identify therapeutic strategies for this
group of participants (for example, avoidance of unnecessarily aggressive surgery).
Similarly, studies in adults at the CCR have tremendously advanced the understanding of rare
solid tumors occurring primarily in adults such as thymoma, renal cell cancer, and endocrine
Systematic and longitudinal collection and annotation of clinical history, tissue samples,
imaging studies, patient reported outcomes, and other pertinent information in participants
with these rare tumors and return of results to participants will provide a service to the
participants themselves and to the medical community, in line with the NIH mission of to seek
fundamental knowledge about the nature and behavior of living systems and the application of
that knowledge to enhance health, lengthen life, and reduce illness and disability .
To comprehensively and longitudinally evaluate the natural history of participants with rare
solid tumors or tumor predisposition syndromes, estimating and defining their clinical
spectrum (e.g. disease course and survival).
Participants with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people
Relatives of participants with diagnosis of rare solid tumors
Carriers of germline genetic variants that predispose to rare solid tumor and their
This will be a long-term study to comprehensively study participants (and their relatives)
with select rare tumors.
Initially participants will provide clinical information (medical history, family medical
history, imaging studies and reports, surgical pathology reports, genetic test results,
patient-reported outcomes) and biospecimens (archival pathology specimen and saliva) for
review by and feedback from the study team.
If indicated, participants will be invited to the study site for additional evaluations and
consultation, including clinical phenotyping, genotyping, imaging of tumor sites, and patient
reported or other appropriate outcomes.
After evaluation, participants will be provided with recommendations about possible treatment
options and might be enrolled into disease specific sub-protocols of this trial.
Since long-term follow-up of individuals with rare tumors, their family members at high risk
for developing tumors, and carriers of germline genetic variants is a major feature of the
study, we intend to maintain active contact with study subjects for as long as possible.
In addition to evaluating individual participants, this protocol will allow bringing groups
of participants (approximately 10-20) with specific rare tumors for a rare tumor clinic on
the same day to allow for development of a deeper understanding of rare tumors through the
conduct of focus groups.
Trial Phase Phase NA
Trial Type Not provided by clinicaltrials.gov
National Cancer Institute
Jaydira Del Rivero
- Primary ID 190016
- Secondary IDs NCI-2018-03297, 19-C-0016
- Clinicaltrials.gov ID NCT03739827