Genetics of Papilloma-Induced Voice Disturbance
Patients must have had an examination of the larynx by an otolaryngologist and must have had the diagnosis confirmed by histopathologic examination of a biopsy specimen. The patients and their respective mothers and fathers will constitute the study population. In cases where one parent cannot participate, the patients[Right Quote] siblings will be included in the study population.
Once a parent and their child accept the invitation to participate in the study, they will be asked to provide informed consent and assent. The investigator will generate a study code and complete the clinical data collection form. The patient[Right Quote]s medical record and the patient[Right Quote]s parent will be used as the source of information. A self-administered questionnaire will be completed by the patient[Right Quote]s mother; she will then seal the single-page form in an envelope which will be provided. The patient will then proceed to the operating room for direct laryngoscopy and papilloma reduction in the usual manner. During or after the placement of an intravenous line the access will be used to acquire approximately 9 ml of blood. The blood will be drawn into an acid-citrate-dextrose (ACD) yellow-topped tube. Several biopsy specimens (diameter of each will be approximately 1mm) will be collected by the surgeon and placed in a sealable plastic tube containing TRIzol (a nucleic acid preservative).
The study deviates from standard care in that parents and occasionally siblings will be asked to undergo venipuncture.
The samples collected shall be sent to Dr. Farrel Buchinsky at the Center for Genomic Sciences (CGS) in Pittsburgh, PA for DNA extraction. The DNA specimens will then be stored for the duration of the study so that genetic analysis can be performed.
Once a gene is identified that confers susceptibility to RRP that gene will be thoroughly sequenced to characterize the allelic form associated with the disease and to help determine the biologic mechanism of the susceptibility. The main purpose of the research is to discover targets for therapeutic intervention.
All individuals who were diagnosed with recurrent respiratory papillomatosis before the age of 18 years are eligible for recruitment irrespective to their sex, ethnicity or other current diseases. Their biological parents will also be eligible. If a parent is unwilling or unable to participate then the patient’s biological siblings who share the missing parent will be eligible to participate.
If a patient in remission wishes to participate, then blood will be drawn by standard venipuncture but no papilloma specimen will be obtained.