Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors

Sponsor

National Cancer Institute (NCI) (NIH)

Overall Status

Recruiting

CT.gov ID

NCT03739827

Collaborator

(none)

10,000

Enrollment

Locations

110.1

Anticipated Duration (Months)

2500

Patients Per Site

22.7

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Background:

Approximately 150 cases of cancer per one million per year are considered rare cancers. While all tumors originate from genetic changes, a small percentage of these tumors are familial. Researchers want to study these changes in biological samples from people with rare tumors in order to learn more about how these tumors develop. The information obtained from this study may lead to improved screening, preventive guidelines, and treatments.

Objective:

To better understand rare cancers and hereditary cancer syndromes.

Eligibility:

People who have a rare tumor, a family history of a rare tumor, a hereditary cancer syndrome, or a mutation that leads to rare tumors.

Design:

Participants will be screened with questions about their medical history and/or that of their family members. They will give a saliva sample.

Participants who have a tumor will have their medical records and tests reviewed. They will answer questions about their wellbeing and needs. They may provide a tumor tissue sample.

Participants may also have:

Physical exam
Clinical photography
Blood, urine, saliva, and stool samples taken
Consultation with specialists
A scan that produces a picture of the body. Either one that uses a small amount of radiation, or one that uses a magnetic field.
Genetic testing/genetic counseling.

Participants will be contacted once a year. They will answer updated questions about their medical and family history.

Participants will be asked to contact the study team if there are changes in their tumors.

Participants may be invited to join focus groups for people with the same diagnosis of rare tumors.

Participants may be invited to participate in other NIH protocols.

RARE TUMOR LIST:

Acinar cell carcinoma of the pancreas
Adamantinoma
Adenosqaumous carcinoma of the pancreas
Adrenocortical carcinoma
Alveolar soft part sarcoma
Anaplastic Thyroid Cancer
Angiosarcoma
Atypical Teratoid Rhabdoid Tumor/MRT
Carcinoid
Carcinoma of Unknown Primary
Chondrosarcoma
Chondromyxoid fibroma
Chordoma
Clear cell renal carcinoma
Clear Cell Sarcoma
Clear cell sarcoma of kidney
Conventional chordoma
Dedifferentiated chordoma
Desmoid
Desmoplastic small round cell tumor
Epithelioid hemangioendothelioma
Esthenioneuroblastoma
Ewing Sarcoma
Fibrolamellar carcinoma
Fusion negative rhabdomyosarcoma
Fusion positive renal cell carcinoma
Fusion positive rhabdomyosarcoma
Gastro-enteropancreatic neuroendocrine tumor
Hepatoblastoma
Hereditary Diffuse Gastric Cancer
Inflammatory myofibroblastic tumor
Kaposiform hemangioendothelioma
Malignant ectomesenchymal tumor
Malignant peripheral nerve sheath tumor
Malignant triton tumor
Medullary thyroid cancer
Mixed acinar adenocarcinoma
Mixed acinar neuroendocrine carcinoma
Myxoid Liposarcoma
Neuroblastoma
Neuroendocrine tumors
NUT midline carcinoma
Osteosarcoma
Pancreas ductal adenocarcinoma with squamous features
Pancreatic acinar cell carcinoma
Papillary renal cell carcinoma
Paraganglioma
Parosteal Osteosarcoma
Periosteal Osteosarcoma
Peripheral nerve sheath tumor
Peripheral primitive neuroectodermal tumor
Pheochromocytoma
Pituitary cancer
Poorly differentiated chordoma
Renal medullary carcinoma
Rhabdomyosarcoma
Round cell Liposarcoma
Schwannoma
Sclerosing Epithelioid Fibrosarcoma
SDH deficient GIST
SMARCB1 deficient tumors
SMARCA4 deficient tumors
Synovial sarcoma
Undifferentiated Sarcoma

Condition or Disease	Intervention/Treatment	Phase
Malignant Solid Tumors Other Neoplasms Solid Tumors Pediatric Solid Tumor Refractory Solid Tumors Solid Tumor

Detailed Description

Background:

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 tumors.

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 .

Objective:

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).

Eligibility:

Participants with a diagnosis of a rare solid tumor (fewer than 15 cases in 100,000 people per year).

Relatives of participants with diagnosis of rare solid tumors

Carriers of germline genetic variants that predispose to rare solid tumor and their relatives.

Design:

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

10000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors

Actual Study Start Date :

Jan 28, 2019

Anticipated Primary Completion Date :

May 31, 2023

Anticipated Study Completion Date :

Mar 31, 2028

Arms and Interventions

Arm	Intervention/Treatment
1/Cohort 1 Subjects with a diagnosis of rare tumor (fewer than 15 cases in 100,000 people per year)
2/Cohort 2 Relatives of subjects with a rare tumor who have a germline genetic variant that predispose to a rare solid tumor or a subject who has a germline genetic variant that predispose to a rare solid tumor
3/Cohort 3 Relatives of subjects with a diagnosis of rare tumor that do NOT have known germline genetic variants that predispose to a rare solid tumor.
4/ Cohort 4 Parents/guardians of children with a diagnosis of rare tumor participating in focus groups (if not enrolled in Cohorts 1, 2 or 3)

Outcome Measures

Primary Outcome Measures

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) [10 years]
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)

Eligibility Criteria

Criteria

Ages Eligible for Study:

4 Weeks and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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).

-Cohort 2: Participants without a rare tumor who have a germline genetic variant that predisposes to a rare solid tumor

-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

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Children's National Medical Center	Washington	District of Columbia	United States	20010
2	National Institutes of Health Clinical Center	Bethesda	Maryland	United States	20892
3	Oregon Health and Science University	Portland	Oregon	United States	97239
4	Texas Children's Hospital	Houston	Texas	United States	77030