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Biological relatives without current HPV disease serving as controls to be compared with those from affected participants for evaluation of the differences between people with HPV and without.

Patients with recurrent HPV related diseases refractory to standard-of-care medical or surgical interventions.

Andrea Lisco, M.D.

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Background:

Most symptoms of human papillomaviruses (HPV) infection, do not cause serious health problems, but some do. As HPV can cause uncontrolled growth of infected cells, some people can develop benign skin lesions, larger warts, genital lesions, tumors or cysts that do not respond to treatment. Researchers want to learn why.

Objective:

To better understand why some people are more likely than others to get sick from HPV infection, and why medicine or surgery is not always effective.

Eligibility:

People aged 3 years and older who have had multiple outbreaks of HPV-related warts and/or lesions that do not respond to treatment. Healthy relatives are also needed.

Design:

Participants will be screened with a medical history, physical exam, and blood tests.

Participants may have study visits as an outpatient or an inpatient (admitted overnight to the NIH hospital) and be followed over several years by our doctors and researchers at the NIH.

Participants may have a cervical and/or anal Pap test. They may give samples of semen, cervicovaginal secretions, urine, saliva, or stool. Small pieces of skin, the inside of the cheek, and/or the gums may be collected with a punch or scrape biopsy to understand how HPV affect the growth of cells.

Mucus and skin may be collected by rubbing the area with a cotton swab. Collection areas may include the inside the mouth, nostrils, skin, genitals, and/or in or around the anus.

Biopsies may be collected. If participants need to have a biopsy as part of medical care, then we may ask if extra samples can be collected for research. Biopsies we may collect are bone marrow, lymph node, genitals, or in or around the anus.

Participants may have leukapheresis. Blood is taken from a needle placed in one arm. A machine separates out the white blood cells. The rest of the blood is returned through a needle in their other arm.

Samples may be used for genetic tests and/or to make special cells called induced pluripotent stem cells.

Participants may have follow-up visits once a year for 10 years.

Benefits:

We are not testing new HPV treatments in this study and you might not benefit from participating. However, we may learn new information about your condition that we will share with you and your doctor. We may make recommendations for your medical care based on current accepted treatment.

What we learn from you and other participants in this study might help other people. We hope we can use this information to develop new treatments and therapies in the future....

Study Design: This is a prospective, longitudinal natural history study. Total length of individual participation is 10 years.

Primary Objective: To define the clinical, immunologic, and genetic bases of severe disseminated, recurrent, and treatment-refractory HPV-related skin and mucosal disease.

Secondary Objectives:

1. Identify novel genetic defects associated with severe HPV-related diseases.
2. Define the natural history of HPV infections on skin and mucosal tissue in immunocompromised hosts.
3. Define the epidemiology of skin and mucosal HPV variants in immunocompromised hosts by next-generation sequencing.
4. Define the distribution of immune cells in skin and mucosal surfaces of patients with severe HPV-related diseases and

immunologic correlates of HPV-disease progression.

Primary Endpoint: Identify novel immunologic and/or genetic determinants of the susceptibility to severe disseminated, recurrent, and

treatment-refractory HPV-related diseases.

Secondary Endpoints: 1. Identify virologic, clinical, and immunologic predictors of progressive HPV-related diseases.

2. Define the cellular and functional components involved in control or lack thereof of HPV infection in different cutaneous and

mucosal surfaces.

The purpose of this study is to identify clinical and immunologic correlates of increased susceptibility to human papillomavirus (HPV) infections, HPV related dysplasia/cancer, or any other HPV-related clinical manifestations. We will enroll patients with disseminated, multifocal or recurrent HPV-related diseases refractory to standard-of-care medical or surgical interventions. Healthy family members will also be enrolled as comparators. This protocol will allow long-term follow-up of patients with primary or acquired immunologic abnormalities associated to such increased susceptibility to HPV-related diseases. It will also allow periodic clinical and laboratory evaluation with collection of blood, biological fluids, tissue and mucosal swabs, and tissue biopsies for medically indicated purposes. Additional research studies on these samples will be aimed to identify genetic and immunologic bases of their HPV related diseases and inform the development of specific and effective treatment interventions.

Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)

To define the clinical, immunologic, and genetic bases of severe disseminated, recurrent, and treatment-refractory HPV-related skin and mucosal disease.

Identify novel genetic defects associated with severe HPV related diseases.

Define the natural history of HPV infections on skin and mucosal tissue in immunocompromised hosts; Define the epidemiology of skin and mucosal HPV variants in immunocompromised hosts by next-generation sequencing; Define the distribution of immune cells in skin and mucosal surfaces of patients with severe HPV-related diseases and immunologic correlates of HPV-disease progression.

Study title	NCT ID	Conditions	Eligibility	Organization
Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)	NCT05026138	Human Papilloma...	3 Years -	National Institutes of Health Clinical Center (CC)
Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)	NCT05026138	Human Papilloma...	3 Years -	National Institutes of Health Clinical Center (CC)
Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)	NCT05026138	Human Papilloma...	3 Years -	National Institutes of Health Clinical Center (CC)

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