Studies of Dermatologic Diseases Biospecimen Acquisition Protocol

Studies of Dermatologic Diseases-Biospecimen Acquisition Protocol

Background:

- Skin disease can have many causes. It can have widespread consequences, and in rare cases can lead to death. Researchers want to determine the causes of various types of skin diseases and find a way to treat them.

Objectives:

- To determine the causes of various skin diseases and find ways to treat them.

Eligibility:

• People ages 2 and older who have:

  • A skin disease or at risk of developing a skin disease OR
  • A family member of persons with a skin disease
• Healthy volunteers ages 2 and older

Design:

• Participants will be screened under a separate protocol.
• Participants may take a survey about how their skin condition affects their quality of life.
• Participants will have a medical history and a physical exam including a detailed skin exam. Pictures will be taken of their skin to document any skin disease.

• Participants will have specimens collected. This may include:

  • Several teaspoons of blood taken at each visit
  • Stool samples
  • Nail and body fluid (like saliva) samples
  • Cheek swabs. The inside of the cheek will be scraped for about a minute in each direction to collect cells.

  • Collection of skin samples with:

    • A swab (like a Q-tip)
    • Gently scraping skin to remove the outer layers of cells
    • Applying and removing 1-inch pieces of tape

• Participants may have up to 4 skin biopsies in 12 months, with 4 separate biopsies taken each time.

  • An area of skin will be numbed with an injection.
  • A piece of skin the size of a pencil eraser will be removed using a small instrument.
  • A flat scar usually develops at the biopsy site.

Study Overview

• Status: Recruiting
• Conditions: Healthy Volunteers; Carcinoma, Merkel Cell; Normal Volunteers; Dermatologic Conditions

Detailed Description

Background:

• Skin diseases represent one of the most common medical problems in the United States, affecting 1 in 3 people at any given time.
• Complex interactions between genetic background and the environment are relevant to understanding skin disease.
• By studying dermatoses, we may gain insight into the complex host-environment interactions that give rise to or exacerbate these skin conditions, and into links between inflammation and cancer.

Objective:

-To procure biologic samples for exploratory cellular, molecular, genetic and genomic biological studies from subjects with dermatologic conditions, subjects at risk for developing dermatologic conditions and healthy volunteers in the support of NIH biomedical studies

Eligibility:

-Subjects with or at risk of developing dermatologic diseases, family members of subjects with dermatologic diseases, or healthy volunteers, including adults and children.

Design:

• The purpose of this study is to examine, in an exploratory fashion, a variety of biologic assays relevant to the investigation of dermatologic diseases.
• Approximately 50 subjects are anticipated to consent to the study each year with an accrual ceiling of 500 consented subjects planned over 10 years.

• Study Type: Observational
• Enrollment (Estimated): 700

Contacts and Locations

• Study Contact: Name: Monica Taylor, R.N.; Phone Number: (301) 451-2221; Email: monica.taylor@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Referrals of eligible subjects currently undergoing evaluation and/or treatment at the NIH Clinical Center

Description

• INCLUSION CRITERIA:

• Eligible participants must:

  • Have a dermatologic condition, as determined by the PI or AIs, OR be at risk for developing a dermatologic condition, as determined by the PI or AIs, OR be a family member of a person with a dermatologic condition OR be a healthy volunteer, as defined as a person with no known significant health problems.
  • Be willing to provide biospecimens for research and clinical studies, and for storage to be used for future research.
  • Subjects of age greater than or equal to 2 years old are eligible.

EXCLUSION CRITERIA:

• Presence of conditions that, in the judgment of the investigator, may put the subject at undue risk or make them unsuitable for participation in the study.
• Inability to comply with the requirements of the protocol.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
1/ Skin disease or at risk; Subjects with a skin disease or at risk of developing a skin disease/ Family member of persons with a skin disease
2/ Healthy Volunteers; Healthy Volunteers

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Procure biologic samples for exploratory cellular, molecular, genetic and genomic biological studies	Collection of biologic samples	Time of collection

Collaborators and Investigators

• Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Heidi H Kong, M.D., National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): June 19, 2015
• Primary Completion (Estimated): January 31, 2027
• Study Completion (Estimated): January 31, 2027

Study Registration Dates

• First Submitted: June 12, 2015
• First Submitted That Met QC Criteria: June 12, 2015
• First Posted (Estimated): June 15, 2015

Study Record Updates

• Last Update Posted (Actual): April 9, 2024
• Last Update Submitted That Met QC Criteria: April 6, 2024
• Last Verified: April 4, 2024

More Information

Terms related to this study

• Keywords: Natural History; Healthy Volunteers; Dermatologic Condition; Skin Disease; Biospecimen; Merkel Cell Carcinoma
• Additional Relevant MeSH Terms: Virus Diseases; Infections; Neoplasms by Histologic Type; Neoplasms; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; DNA Virus Infections; Tumor Virus Infections; Neuroendocrine Tumors; Polyomavirus Infections; Carcinoma, Neuroendocrine; Skin Diseases; Carcinoma, Merkel Cell
• Other Study ID Numbers: 150144; 15-AR-0144

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: .Protocol is silent on sharing IPD.

Drug and device information, study documents

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