NCT01353300

Brief Summary

RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may also help doctors identify patients who are at risk for cancer. PURPOSE: This research study studies gene mutations in samples from young patients with pleuropulmonary blastoma syndrome at risk for developing cancer.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
31

participants targeted

Target at below P25 for all trials

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2011

Completed
11 days until next milestone

First Submitted

Initial submission to the registry

May 12, 2011

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 13, 2011

Completed
5.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2016

Completed
Last Updated

July 11, 2016

Status Verified

July 1, 2016

Enrollment Period

5.2 years

First QC Date

May 12, 2011

Last Update Submit

July 7, 2016

Conditions

Brain and Central Nervous System TumorsHereditary Wilms TumorKidney CancerLiver CancerNeuroblastomaPleuropulmonary BlastomaSarcoma

Keywords

embryonal childhood rhabdomyosarcomacystic nephromaneuroblastomachildhood medulloblastomachildhood hepatoblastomastromal predominant Wilms tumorhereditary Wilms tumorpleuropulmonary blastoma

Outcome Measures

Primary Outcomes (1)

  • Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas

Interventions

DNA analysisGENETIC
cytogenetic analysisGENETIC
gene expression analysisGENETIC
gene rearrangement analysisGENETIC
mutation analysisGENETIC
polymerase chain reactionGENETIC
polymorphism analysisGENETIC
laboratory biomarker analysisOTHER
medical chart reviewOTHER

Eligibility Criteria

AgeUp to 120 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with a diagnosis of pleuropulmonary blastoma syndrome.

DISEASE CHARACTERISTICS: * Diagnosis of pleuropulmonary blastoma syndrome * Normal tissue samples, if available * Parental and sibling DNA samples, if available PATIENT CHARACTERISTICS: * Not specified PRIOR CONCURRENT THERAPY: * Not specified

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

MeSH Terms

Conditions

Central Nervous System NeoplasmsKidney NeoplasmsLiver NeoplasmsNeuroblastomaPleuropulmonary blastomaSarcomaMedulloblastomaHepatoblastoma

Interventions

Cytogenetic AnalysisGene Expression ProfilingGene RearrangementPolymerase Chain ReactionAmplified Fragment Length Polymorphism Analysis

Condition Hierarchy (Ancestors)

Nervous System NeoplasmsNeoplasms by SiteNeoplasmsNervous System DiseasesUrologic NeoplasmsUrogenital NeoplasmsFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesKidney DiseasesUrologic DiseasesMale Urogenital DiseasesDigestive System NeoplasmsDigestive System DiseasesLiver DiseasesNeuroectodermal Tumors, Primitive, PeripheralNeuroectodermal Tumors, PrimitiveNeoplasms, NeuroepithelialNeuroectodermal TumorsNeoplasms, Germ Cell and EmbryonalNeoplasms by Histologic TypeNeoplasms, Glandular and EpithelialNeoplasms, Nerve TissueNeoplasms, Connective and Soft TissueGliomaNeoplasms, Complex and Mixed

Intervention Hierarchy (Ancestors)

Cytological TechniquesClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic TechniquesGenetic PhenomenaNucleic Acid Amplification TechniquesDNA Fingerprinting

Study Officials

  • Dana A. Hill, MD

    Children's National Research Institute

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
RETROSPECTIVE
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 12, 2011

First Posted

May 13, 2011

Study Start

May 1, 2011

Primary Completion

July 1, 2016

Last Updated

July 11, 2016

Record last verified: 2016-07