Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders

Enrolling by invitation

Conditions studied: Primary Immunodeficiency, DOCK8, Virus Susceptibility

In brief

Background: * National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick. * To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future. Objectives: * To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes. Eligibility: * Patients between the ages of 2 and 85 who have immune system disorders. * Healthy volunteers between the ages of 18 and 85. * Both groups will be selected from the eligible participants of existing NIH studies into immune system disorders. Design: * Researchers may take up to two biopsies from participants arms, legs, abdomen, or back. * The biopsy site will be numbed with local anesthetic and cleaned before the sample is taken. * The punch skin biopsy needle will be inserted into the skin and rotated to remove a small circle of skin (approximately 1/4 to 3/8 of an inch across). The area will be closed with bandages or stitches, and then covered with a dressing. Any stitches will be removed in 7 to 10 days. * Tissue samples collected in the study will be stored for future research.

Key facts

Study ID

NCT00895271

Run by

National Institute of Allergy and Infectious Diseases (NIAID)

People needed

200

Starts

2009-06-10

Last updated by the study team

2026-08-04

Who can join

Age: 2 and older, up to 85. Sex: any. Healthy volunteers: accepted.

You may not qualify if…

• Patients or the Patient Relative are not eligible to be in this trial if::
• Platelet count less than 20,000/microL
• The individual is hemodynamically unstable because of acute bleeding.
• Any condition that, in the investigator s opinion, places the patient at undue risk by participating in the study or limits the utility of the specimen to be obtained.
• For Nasal Scraping: a history of turbinectomy or significant nasal pathology that would preclude obtaining mucosal scrape biopsies.
• A Healthy Volunteer is not eligible to be in this trial if they:
• Areless than 18 years old or older than 85 years
• Weighs less than 110 pounds
• Are pregnant or breastfeeding
• Are receiving a chemotherapeutic agent(s) or has a malignancy
• Cannot avoid taking aspirin or non-steroidal anti-inflammatory medications during the 7 days preceding skin biopsy
• Have history of heart, lung, kidney disease, bleeding disorders, diabetes mellitus, chronic peripheral arterial or venous insufficiency, chronic diffuse skin conditions without uninvolved areas suitable for skin biopsy, poor skin healing, or keloid formation.
• Have been diagnosed as having viral hepatitis (B or C), human immunodeficiency virus (HIV), or a carrier for methicillin-resistant Staphylococcus aureus (MRSA)
• Hemoglobin measurement is less than 12.0 g/dL
• Platelet count less than 150,000/(micro)L
• PT greater than 15.0 seconds or PTT greater than 40 seconds
• Have a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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