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

NCT03739827 | Recruiting

• 2 other identifiers: 19001619-C-0016
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 3

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

Conditions

Malignant Solid Tumors; Other Neoplasms Solid Tumors; Pediatric Solid Tumor; Refractory Solid Tumors; Solid Tumor

Keywords

Service to the Patients; Knowledge about the Nature of Cancer; Cancer Evaluations; Natural History

Outcome Measures

Primary Outcomes (1)

• 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)

  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

Study Arms (4)

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)

Eligibility Criteria

• Age: 4 Weeks+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary clinical

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (3)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Oregon Health and Science University

Portland, Oregon, 97239, United States

RECRUITING

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Mary F Wedekind Malone, D.O.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Barbara J Thomas, R.N.

CONTACT

(240) 858-3633; barbara.thomas2@nih.gov

Mary F Wedekind Malone, D.O.

CONTACT

(240) 858-3765; maryfrances.wedekindmalone@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 10, 2018
• First Posted: November 14, 2018
• Study Start: January 28, 2019
• Primary Completion (Estimated): May 31, 2028
• Study Completion (Estimated): March 31, 2032
• Last Updated: April 24, 2026

Record last verified: 2026-03-27

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Clinical data available during the study and indefinitely. Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
• Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. Genomic data are made available via dbGaP through requests to the data custodians.

Locations

US (3)