Yükleniyor... / Loading...
This study investigates the natural history of pleuropulmonary blastoma (PPB) and related tumors that arise from DICER1 gene alterations. It enrolls individuals with a DICER1-related tumor or a known/suspected DICER1 disease-associated variant. It is an observational (non-phase) study and is currently recruiting.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
* 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.