Recruiting

Observational Study

Sponsor:

Children's Hospitals and Clinics of Minnesota

Code:

NCT03382158

Conditions

Pleuropulmonary Blastoma

Sertoli-Leydig Cell Tumor

DICER1 Syndrome

Cystic Nephroma

Wilms Tumor

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Pleuropulmonary Blastoma

Sertoli-Leydig Cell Tumor

DICER1 Syndrome

Cystic Nephroma

Wilms Tumor

Study ID

NCT03382158

Start date

Dec 6, 2016

Status verified date

Jan, 2025

Completion date

Dec 6, 2035

Anticipated

Primary completion date

Dec 6, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

3400 participants

Anticipated

Interventions and Outcome Measures

Arms

Type I PPB

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.

Types II and III PPB

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.

Type Ir PPB

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.

DICER1 Gene or Cond Assoc with DICER1

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.

Primary outcome measure

  • Event-free survival [ Time Frame: 7 years ]

Central Contacts and Locations

Central contacts

Kris Ann P Schultz, MD

612-813-7121krisann.schultz@childrensmn.org

Paige HR Mallinger, MS

612-813-7115paige.mallinger@childrensmn.org

Locations

Children's Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55404

Contacts

Paige HR Mallinger, MS

612-813-7115paige.mallinger@childrensmn.org

Anne K Harris, MPH

6128137121anne.harris@childrensmn.org

Principal Investigator:

Kris Ann P Schultz, MD

More Information

Sponsor

Children's Hospitals and Clinics of Minnesota

Last update posted

Jan 30, 2025

Last verified

Jan, 2025

Keywords

  • pleuropulmonary blastoma
  • PPB
  • DICER1
  • SLCT
  • Sertoli-Leydig Cell Tumor
  • Cystic Nephroma
  • CN
  • DICER1 mutation
  • DICER1 syndrome
  • Wilms Tumor
  • Pineoblastoma
  • Renal Sarcoma
  • ASK
  • Nodular Hyperplasia of Thyroid
  • Thyroid Nodules
  • Thyroid Carcinoma
  • Nasal Chondromesenchymal Hamartoma
  • NCMH
  • Ciliary Body Medulloepithelioma
  • CBME
  • Neuroblastoma
  • Pituitary Cancer
  • Embryonal Rhabdomyosarcoma
  • ERMS
  • Ovarian Sarcoma
  • Gynandroblastoma
  • Peritoneal PPB
  • pPPB
  • multinodular goiter
  • PPB Type I
  • PPB Type II
  • PPB Type III
  • PPB Type Ir

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Children's Hospitals and Clinics of Minnesota on 2025-01-30.