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International PPB/DICER1 Registry

Children's Hospitals and Clinics of Minnesota · with Washington University School of Medicine, University of Cambridge · NCT03382158

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Up to age 100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
3400
US sites recruiting
1
Study start
December 6, 2016
Record last updated
October 26, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence. The International PPB/DICER1 Registry first reported DICER1 germline loss-of-function variations in individuals with PPB and their family members. Conditions associated with DICER1 include Sertoli-Leydig cell tumor (SLCT), gynandroblastoma, ovarian sarcoma, peritoneal PPB, lung cysts, renal cysts, cystic nephroma (CN), anaplastic sarcoma of the kidney (ASK), Wilms tumor, primary DICER1-associated central nervous system (CNS) sarcoma, pineoblastoma, pituitary blastoma, multinodular goiter, thyroid carcinoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma (CBME), juvenile hamartomatous intestinal polyps, embryonal rhabdomyosarcoma (ERMS) and undifferentiated sarcoma. DICER1 variations may also be associated with macrocephaly and overgrowth syndrome.

The International PPB/DICER1 Registry estimates that 30-50 cases of Type I and Ir PPB and 40-60 cases of Types II and III PPB are diagnosed annually worldwide. In 2009, the International Pleuropulmonary Blastoma Registry began a prospective study to collect treatment data on individuals for whom therapy decisions were made by their treating institution.

Conditions: Pleuropulmonary Blastoma; Sertoli-Leydig Cell Tumor; DICER1 Syndrome; Cystic Nephroma; Wilms Tumor; Pineoblastoma; Renal Sarcoma; Nodular Hyperplasia of Thyroid; Nasal Chondromesenchymal Hamartoma; Ciliary Body Medulloepithelioma; Neuroblastoma; Pituitary Cancer; Embryonal Rhabdomyosarcoma; Ovarian Sarcoma; Gynandroblastoma; Thyroid Carcinoma; Embryonal Rhabdomyosarcoma of Vagina (Diagnosis); Embryonal Rhabdomyosarcoma of Uterus (Diagnosis); Embryonal Rhabdomyosarcoma of Cervix; Intracranial Sarcoma

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • Known or suspected PPB or related thoracic tumor
  • Known or suspected sex-cord stromal tumor including Sertoli-Leydig cell tumor and gynandroblastoma (males or females)
  • 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
  • Individuals with known or suspected DICER1 pathogenic variation regardless of whether they have an established DICER1-associated condition
  • Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent)

Exclusion criteria

Absence of appropriate consent for Registry participation

Recruiting US locations

  • Children's Minnesota

    Minneapolis, MN 55404

    Site contact: Paige HR Mallinger, MS · 612-813-7115 · paige.mallinger@childrensmn.org

Study contacts (from the official record)

  • Kris Ann P Schultz, MD · 612-813-7121 · krisann.schultz@childrensmn.org
  • Paige HR Mallinger, MS · 612-813-7115 · paige.mallinger@childrensmn.org
All healthy volunteers studies in Minnesota →
International PPB/DICER1 Registry (NCT03382158) | Bored Studies