International PPB/DICER1 Registry

International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions

Sponsors

Lead Sponsor: Children's Hospitals and Clinics of Minnesota

Collaborator: Children's National Research Institute
Washington University School of Medicine
ResourcePath, LLC
Beijing Children's Hospital
University of Cambridge
Emory University
Dana-Farber Cancer Institute

Source Children's Hospitals and Clinics of Minnesota
Brief Summary

Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm of the lung presenting in early childhood. Type I PPB is a purely cystic lesion, Type II is a partially cystic, partially solid tumor, Type III is a completely solid tumor. Treatment of children with PPB is at the discretion of the treating institution. This study builds off of the 2009 study and will also seek to enroll individuals with DICER1-associated conditions, some of whom may present only with the DICER1 gene mutation, which will help the Registry understand how these tumors and conditions develop, their clinical course and the most effective treatments.

Detailed Description

PPB is a rare cancer of the lung presenting in early childhood, mostly commonly from birth to age ~72 months. PPB occurs within the lung or between the lung and the chest wall. There are three primary forms of PPB called Types I, II, and III PPB. PPB is related to an underlying change/mutation in a gene called DICER1 which impacts gene expression and cell growth. DICER1 mutations may also lead to the development of other tumors in children and adults. The International PPB/DICER1 Registry offers information based on previous data from Registry participants and the medical literature and collaborative efforts with international rare tumor groups. Retrospective and real-time central pathology review is encouraged. Therapy decisions remain at the discretion of the treating institution. Children with Type I PPB require surgery and sometimes chemotherapy. Therapy decisions are the responsibility of the treating institution. Surgical guidelines are presented. It is unknown whether adjuvant chemotherapy improves cure rates for Type I PPB patients. Chemotherapy options include a 22-week regimen: 4 courses of vincristine, actinomycin D and cyclophosphamide (VAC) followed by 3 courses of vincristine and actinomycin D (VA). Children with Types II and III PPB, require surgery, chemotherapy and sometimes radiation therapy. Many children with Types II or III PPB receive a single-arm multi-agent chemotherapy neo-adjuvant/adjuvant regimen of IVADo (ifosfamide, vincristine, actinomycin, doxorubicin) for 36 weeks. Second and possible 3rd look surgery may be considered for local control. Radiation therapy may be considered.

Overall Status Recruiting
Start Date 2016-12-06
Completion Date 2026-12-06
Primary Completion Date 2023-12-06
Study Type Observational
Primary Outcome
Measure Time Frame
Event-free survival 7 years
Secondary Outcome
Measure Time Frame
Overall response to chemotherapy 7 years
Overall survival 7 years
Quality of life outcomes in individuals diagnosed with PPB. 7 years
Cardiac outcomes in individuals diagnosed with PPB. 7 years
Pulmonary function testing results in individuals diagnosed with PPB 7 years
Incidence of neoplasms in individuals with DICER1-related conditions or germline DICER1 variants. mutation. 7 years
Enrollment 3400
Condition
Eligibility

Sampling Method:

Non-Probability Sample

Criteria:

Inclusion Criteria: 1. Known or suspected PPB or related thoracic tumor 2. Known or suspected sex-cord stromal tumor including Sertoli-Leydig cell tumor and gynandroblastoma (males or females) 3. Other known or suspected DICER1-related condition including ovarian sarcoma, cystic nephroma, renal sarcoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma and others 4. Individuals with known or suspected DICER1 pathogenic variation regardless of whether they have an established DICER1-associated condition 5. Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent) Exclusion criteria: Absence of appropriate consent for Registry participation

Gender:

All

Minimum Age:

N/A

Maximum Age:

N/A

Healthy Volunteers:

Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Kris Ann P Schultz, MD Principal Investigator Children's Minnesota
Overall Contact

Last Name: Kris Ann P Schultz, MD

Phone: 612-813-7121

Email: [email protected]

Location
Facility: Status: Contact: Children's Minnesota Anne Harris, MPH 612-813-5861 [email protected]
Location Countries

United States

Verification Date

2021-04-01

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Type I PPB

Description: Type I PPB is an early manifestation of this malignant disease, cured in some cases by surgery. Surgical guidelines are presented. It is unknown whether adjuvant chemotherapy improves cure rates for individuals with Type I PPB. If the treating physicians select adjuvant chemotherapy treatment, chemotherapy options include a 22-week regimen: 4 courses of vincristine, actinomycin D and cyclophosphamide (VAC) followed by 3 courses of vincristine and actinomycin D (VA). Therapy decisions are the responsibility of the treating institution.

Label: Types II and III PPB

Description: Types II and III PPB are aggressive sarcomas. Surgery and chemotherapy are necessary in all cases. Surgical guidelines are presented. Many children with Types II or III PPB receive a single-arm multi-agent chemotherapy neo-adjuvant/adjuvant regimen of IVADo (ifosfamide, vincristine, actinomycin, doxorubicin) for 36 weeks. Second and possible 3rd look surgery may be considered for local control. Radiation therapy may be considered. Specific therapy decisions are the responsibility of the treating institution.

Label: Type Ir PPB

Description: Type Ir (regressed) PPB is a unique, purely cystic tumor which lacks a primitive cell component. The International PPB/DICER1 Registry will enroll and follow participants with Type Ir PPB, regardless of age.

Label: DICER1 Gene or Cond Assoc with DICER1

Description: PPB and the associated conditions found in PPB families suggest a familial tendency to formation of tumors. The International PPB/DICER1 Registry for PPB, DICER1 and Associated Conditions study will enroll and follow participants who have the DICER1 gene mutations or conditions associated with PPB or DICER1.

Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Other

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact [email protected]. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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