Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors
- - INCLUSION CRITERIA: - Patients with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year). Patients with central nervous system tumors will not be included. OR - Relatives of patients with diagnosis of rare solid tumors OR - Familial carriers of germline genetic variants that predispose to rare solid tumor and their relatives. - 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 are uniquely suited to pursue 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 patients with plexiform neurofibromas.
The Pediatric and Wild-Type Gastrointestinal Stromal Tumor (GIST) Clinic 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 patients (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 tumors. The DCEG has made groundbreaking discoveries in large scale
long-term longitudinal cohort studies of Li-Fraumeni syndrome, inherited bone marrow failure
syndromes, familial melanoma, DICER1-syndrome, and others. We hypothesize that by combining
the distinct expertise of DCEG and CCR investigators to jointly study very rare tumors the
understanding of the etiology and natural history of these tumors and the development
effective prevention strategies and therapies will accelerate.
- Systematic and longitudinal collection and annotation of clinical history, tissue samples,
imaging studies, patient reported outcomes, and other pertinent information in patients with
these rare tumors and return of results to patients will provide a service to the patients
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 patients with rare
solid tumors or tumor predisposition syndromes, estimating and defining their clinical
spectrum (e.g. disease course and survival).
- Patients with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per
year). Central nervous system tumors will not be included.
- Relatives of patients with diagnosis of rare solid tumors
- Familial carriers of germline genetic variants that predispose to rare solid tumor and
- This will be a long-term study to comprehensively study patients (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, patientreported outcomes) and bio specimens (archival pathology specimen and
saliva) for review by and feedback from the study team.
- If necessary, participants will be invited to NIH Clinical Center 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 here in NIH 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 familial 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 patients, this protocol will allow bringing groups
of patients (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