The Natural History and Biological Study of Pulmonary Recurrent Respiratory Papillomatosis (pRRP)

Recurrent respiratory papillomatosis (RRP) is an orphan disease that affects approximately 20,000 people in the United States and is caused by infection with human papillomavirus (HPV) types 6 and 11. Since RRP is an orphan disease, it is an understudied disease entity with correspondingly few treatment options. The investigators hypothesize that by understanding the biology of RRP and the failed host immune responses against HPV, novel and rational therapies can be developed. This study will examine the genetic and immunologic alterations found in these rare tumors and distant metastatic involved sites (such as the lung) in patients diagnosed with RRP.

Study Overview

• Status: Recruiting
• Conditions: Recurrent Respiratory Papillomatosis; Pulmonary Neoplasm

Detailed Description

Since RRP is an orphan disease, any single institution or hospital treats a limited number of RRP patients. The primary purpose for establishing a tissue repository is to collect RRP tissue from various institutions and hospitals and to provide investigators access to a large number of RRP tissues to perform genetic and immunologic studies of these rare tumors. This is both a prospective and retrospective tissue collection repository. Tissue that will be collected will include excess fresh or archived human tissue, either normal or pathological, that was removed as part of standard of care clinical procedures and/or during procedures performed for separate research purposes, such as a therapeutic clinical trial. Prospectively collected and archived pathology samples will be obtained under informed consent from those patients who are still living. The tissue repository will be de-identified. The PI and the RRP Foundation will collaborate and serve as the gatekeepers of the repository and oversee any tissue requests. Any academic collaborator(s) or for-profit collaborator(s) can request access to the tissue specimens. The investigator or collaborators should submit a letter to express interest in obtaining tissue from the tissue repository to the RRP Foundation and the PI.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Sara Pai, MD, PhD; Phone Number: 203-785-5820; Email: RRPBiorepository@yale.edu
• Study Contact Backup: Name: Marcelle Stiff; Email: mstiffpulmonary@rrpf.org

Study Locations

• United States
  • Connecticut
    • New Haven, Connecticut, United States, 06520
      • Recruiting
      • Yale School of Medicine
      • Contact: Sara Pai, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with HPV-associated RRP. The investigators will collect, store, and study primary tissue and distant anatomic sites of disease which were removed as part of standard of care.

Description

Inclusion Criteria:

• History of HPV-associated Recurrent Respiratory Papillomatosis
• Has pulmonary lesions

Exclusion Criteria:

• None

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants with HPV 6 or 11 infection in the pulmonary lesions	HPV 6 and 11 genotyping will be done via polymerase chain reaction	24 months
Number of Participants with different mutational profiles in the matched laryngeal and pulmonary lesions	Sequencing of the HPV genome in the matched laryngeal and pulmonary lesions will be performed.	24 months

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Investigators: Principal Investigator: Sara Pai, Yale University

Study record dates

Study Major Dates

• Study Start (Actual): April 15, 2024
• Primary Completion (Estimated): April 14, 2026
• Study Completion (Estimated): April 15, 2030

Study Registration Dates

• First Submitted: April 14, 2024
• First Submitted That Met QC Criteria: May 12, 2024
• First Posted (Actual): May 14, 2024

Study Record Updates

• Last Update Posted (Actual): May 17, 2024
• Last Update Submitted That Met QC Criteria: May 15, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Virus Diseases; Infections; Respiratory Tract Diseases; Communicable Diseases; Sexually Transmitted Diseases, Viral; Sexually Transmitted Diseases; Neoplasms by Histologic Type; Neoplasms; Lung Diseases; Neoplasms by Site; Neoplasms, Glandular and Epithelial; Disease Attributes; Respiratory Tract Neoplasms; Thoracic Neoplasms; DNA Virus Infections; Tumor Virus Infections; Neoplasms, Squamous Cell; Urogenital Diseases; Genital Diseases; Lung Neoplasms; Recurrence; Respiratory Tract Infections; Papillomavirus Infections; Papilloma
• Other Study ID Numbers: HIC# 2000037079

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No