Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome (PPB)
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ClinicalTrials.gov Identifier: NCT00565903 |
Recruitment Status :
Active, not recruiting
First Posted : November 30, 2007
Last Update Posted : March 2, 2021
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Condition or disease |
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Pleuropulmonary Blastoma Cystic Nephroma Sertoli-Leydig Cell Tumor of Ovary Medulloepithelioma Embryonal Rhabdomyosarcoma of Cervix Goiter Sarcoma Pineoblastoma Pituitary Tumors Wilms Tumor |
Study Type : | Observational |
Estimated Enrollment : | 2000 participants |
Observational Model: | Family-Based |
Time Perspective: | Prospective |
Official Title: | Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome |
Study Start Date : | March 2005 |
Actual Primary Completion Date : | December 31, 2018 |
Estimated Study Completion Date : | December 31, 2022 |

- Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma [ Time Frame: 10 years ]
- Define the clinical features of the pleuropulmonary blastoma (PPB) familial cancer syndrome. [ Time Frame: 10 years ]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | up to 95 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Child or adult diagnosed with pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma of uterine cervix, ovarian Sertoli-Leydig tumor or gynandroblastoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, medulloepithelioma, Wilms tumor, germline or mosaic DICER1 mutation
Exclusion Criteria:
- child or adult who does not fit inclusion criteria as listed above

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00565903
United States, District of Columbia | |
Children's National Medical Center | |
Washington, District of Columbia, United States, 20010 |
Study Chair: | D. Ashley Hill, MD | Children's National Research Institute | |
Study Director: | Kris Ann Schultz, MD | Children's Hospital and Clinics of Minnesota |
Publications of Results:
Responsible Party: | D. Ashley Hill, M.D., MD, Division Chief Pathology, Children's National Research Institute |
ClinicalTrials.gov Identifier: | NCT00565903 |
Other Study ID Numbers: |
05-0192 / 201012830 |
First Posted: | November 30, 2007 Key Record Dates |
Last Update Posted: | March 2, 2021 |
Last Verified: | March 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | Sequence data deposited in ClinVar upon publication. Publication of all final results in NIHMS |
pleuropulmonary blastoma PPB cystic nephroma DICER1 miRNA |
Rhabdomyosarcoma Wilms Tumor Pituitary Neoplasms Pinealoma Pulmonary Blastoma Neuroectodermal Tumors, Primitive Rhabdomyosarcoma, Embryonal Leydig Cell Tumor Sertoli-Leydig Cell Tumor Neoplasms Sarcoma Neoplasms, Connective and Soft Tissue Neoplasms by Histologic Type Pituitary Diseases Hypothalamic Diseases |
Brain Diseases Central Nervous System Diseases Nervous System Diseases Endocrine System Diseases Myosarcoma Neoplasms, Muscle Tissue Neoplasms, Complex and Mixed Kidney Neoplasms Urologic Neoplasms Urogenital Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Kidney Diseases Urologic Diseases Genetic Diseases, Inborn |