Status:
RECRUITING
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
Lead Sponsor:
National Cancer Institute (NCI)
Conditions:
Pleuropulmonary Blastoma
Cystic Nephroma
Eligibility:
All Genders
1-99 years
Brief Summary
Background: \- Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age. Rece...
Detailed Description
Study Description: Multidisciplinary natural history study with self-administered questionnaires, clinical/epidemiologic/genetic evaluations, clinical and research laboratory tests, review of medical...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- All participants who meet the eligibility criteria outlined below will be eligible for inclusion in this study regardless of their race, gender, ethnicity, or age.
- Affected individual is defined as:
- an individual with histologically-confirmed PPB and/or other DICER1-related tumors
- an individual with a known or suspected DICER1 disease-associated variant
- an individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and/or thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed.
- Unaffected individual is defined as:
- a family member (such as parents, siblings, children, or extended family) of an affected participant without a known or suspected DICER1 disease-associated variant or condition and they will be controls.
- Other inclusion criteria include:
- All types and amounts of prior therapies are allowed.
- There is no age restriction.
- There is no restriction related to organ and marrow function.
- Ability of the individual or their legal guardian or appropriate surrogate to understand, and their willingness to provide informed consent.
- Neonates of affected individuals will be included in the Field Cohort and be eligible for genetic counseling, education, and testing, if indicated and consented by a parent/legal guardian/LAR.
- This is entirely a function of meeting the inclusion criteria and not being excluded by the exclusion criteria.
- In some instances, patients with histologically-confirmed PPB and/or another neoplasm within the DICER1-related tumor risk and their families will be referred to the Clinical Genetics Branch (CGB) by the International Pleuropulmonary Blastoma (PPB) / DICER1 Registry (IPPBR), provided that the family has previously or currently indicated a desire to be notified of such research opportunities. In non IPPBR cases, the diagnosis will be confirmed by reviewing relevant medical records and relevant surgical pathology material.
- EXCLUSION CRITERIA:
- Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.
Exclusion
Key Trial Info
Start Date :
February 13 2011
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
1500 Patients enrolled
Trial Details
Trial ID
NCT01247597
Start Date
February 13 2011
Last Update
January 5 2026
Active Locations (2)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
2
National Cancer Institute - Shady Grove
Rockville, Maryland, United States, 20850