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DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
This study is currently recruiting participants.
Verified February 1, 2017 by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Sponsor:
National Cancer Institute (NCI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
ClinicalTrials.gov Identifier:
NCT01247597
First received: November 23, 2010
Last updated: July 18, 2017
Last verified: February 1, 2017
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Purpose
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. Recently, it has been shown that this condition can be inherited (e.g., mutation of the DICER1 gene). Researchers are studying both clinical and genetic aspects of this newly described condition. They are interested in collecting further medical history and genetic information on individuals and close relatives of individuals who have PPB or other rare associated tumors.
Objectives:
- To study individuals with a personal or a family history of pleuropulmonary blastoma (PPB) or other rare tumors that can be associated with PPB (e.g., cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma).
Eligibility:
- Individuals who have been diagnosed with PPB and/or PPB-related tumors.
- Close blood relatives (e.g., parents, siblings, grandparents) of individuals who have been diagnosed with PPB and/or PPB-related tumors.
Design:
- Interested participants can enroll or inquire about this study by calling 1-800-518-8474.
- Participants will be asked to complete family history and medical history questionnaires. They will complete the questionnaire if they are at least 18 years of age, or another person will complete the questionnaire if the key family member is too young to do so on his or her own.
- Participants will be asked to sign a medical record release form to allow researchers to examine detailed medical history information.
- Participants may be asked to have a physical examination and imaging studies, provide blood and saliva samples, or provide tumor tissue from prior biopsies or cancer surgeries.
- Annually, participants will update the family history and individual information questionnaires to document important changes in medical history, and will also update the medical record release form. Participants may be asked to provide additional cheek lining cells and/or blood samples, as well as tumor tissue from any new or planned biopsies or tumor surgeries.
- Treatment will not be provided as part of this protocol.
| Condition |
|---|
| Pleuropulmonary Blastoma Cystic Nephroma Ovarian Sertoli-Leydig Cell Tumors Ocular Medulloepithelioma Nasal Chondromesenchymal Hamartoma |
| Study Type: | Observational |
| Study Design: | Observational Model: Family-Based Time Perspective: Other |
| Official Title: | DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study |
Resource links provided by NLM:
Genetics Home Reference related topics:
DICER1 syndrome
Genetic and Rare Diseases Information Center resources:
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
Pleuropulmonary Blastoma
Sertoli-leydig Cell Tumors
Neuroepithelioma
Testicular Cancer
Ovarian Cancer
U.S. FDA Resources
Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Primary Outcome Measures:
- To characterize the clinical phenotype of, and study the incident and prevalent cancer rates in, these patients and their family members, for all cancers combined, and for each type of cancer, and to identify and confirm the specific types of ca... [ Time Frame: Ongoing ]
- To establish a cohort of patients with PPB and/or specific neoplasms of the PPB spectrum (cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, Wilms tumor,... [ Time Frame: Ongoing ]
- To identify differences between patients with a germline mutation in DICER1 (or another gene(s) from this pathway) who do develop cancer and those who do not develop cancer. These differences may include genotype/phenotype/cancer susceptibility ... [ Time Frame: Ongoing ]
- To develop evidence-based management guidelines for cancer prevention and risk-reduction strategies for PPB patients and their family members prior to and after obtaining answers to the questions/objectives above. [ Time Frame: Ongoing ]
- To evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of PPB. [ Time Frame: Ongoing ]
- To create a biospecimen repository of carefully-annotated tissue samples for use in subsequent etiologically-oriented translational research projects. These samples comprise an invaluable resource for current and future studies related to the et... [ Time Frame: Ongoing ]
| Estimated Enrollment: | 1500 |
| Study Start Date: | November 12, 2010 |
Show Detailed Description
Eligibility| Ages Eligible for Study: | up to 100 Years (Child, Adult, Senior) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
Criteria
- INCLUSION CRITERIA:
- Patients with histologically-confirmed PPB and their relatives of interest [parents, siblings, mutation carriers (e.g., grandparents), other affecteds]. Given the rarity of this disorder, we are open to patients from all over the world, at the discretion of the PI (e.g. availability of medical records in English, ability of patient/family to communicate in English) but will follow NIH travel regulations.
- Patients from the general population with one or more of the unique tumors of the types seen in patients/families with PPB. Cystic nephroma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma - regardless of family history. Relatives of these patients will be eligible for the study as well (parents, siblings, mutation carriers, other affecteds). Additional syndrome-associated neoplasms may be identified in the future, and they will be added to the protocol as needed.
- 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 proband or their guardians to understand, and their willingness to sign, a written informed consent document.
EXCLUSION CRITERIA:
- Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.
- Inability to provide informed consent.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01247597
Please refer to this study by its ClinicalTrials.gov identifier: NCT01247597
Contacts
| Contact: Douglas R Stewart, M.D. | (240) 276-7238 | drstewart@mail.nih.gov |
Locations
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937 | |
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
| Principal Investigator: | Douglas R Stewart, M.D. | National Cancer Institute (NCI) |
More Information
Additional Information:
Publications:
| Responsible Party: | National Cancer Institute (NCI) |
| ClinicalTrials.gov Identifier: | NCT01247597 History of Changes |
| Other Study ID Numbers: |
110034 11-C-0034 |
| Study First Received: | November 23, 2010 |
| Last Updated: | July 18, 2017 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
|
Thyroid Cancer Germline DICER1 Mutation MicroRNA Biogenesis Pleuropulmonary Blastoma PPB |
Additional relevant MeSH terms:
|
Disease Susceptibility Pulmonary Blastoma Neuroectodermal Tumors, Primitive Hamartoma Leydig Cell Tumor Sertoli-Leydig Cell Tumor Disease Attributes Pathologic Processes Neoplasms, Complex and Mixed Neoplasms by Histologic Type Neoplasms Lung Neoplasms Respiratory Tract Neoplasms Thoracic Neoplasms Neoplasms by Site |
Neoplasms, Neuroepithelial Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Sex Cord-Gonadal Stromal Tumors Neoplasms, Gonadal Tissue Testicular Neoplasms Endocrine Gland Neoplasms Genital Neoplasms, Male Urogenital Neoplasms Genital Diseases, Male Endocrine System Diseases Testicular Diseases Gonadal Disorders |
ClinicalTrials.gov processed this record on July 19, 2017