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

• Conditions: Virus Susceptibility; Primary Immunodeficiency; DOCK8

• Registration Number: NCT00895271
• Lead Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

Brief Summary

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.

Detailed Description

This protocol is designed as an adjunct to other National Institutes of Health (NIH) IRB approved protocols that allow for genetic testing, which may include those that are screening protocols for patients with rare primary immunodeficiency or immunodysregulation disorders. Patients deemed of sufficient research interest after review of outside medical records, clinical evaluation, and testing, may be invited to participate in this study. Healthy volunteers and relatives of patients will also be invited to participate as a source of control samples for research testing. After consent and enrollment into this study, skin punch biopsies will be obtained to establish dermal fibroblast cell lines for research studies directed at understanding the genetic and biochemical bases of these diseases. Cell lines will also be used to investigate the utility of induced pluripotent stem cells (iPS) for lymphocyte derivation and targeted gene correction. The nasal epithelial scrapings will be used for research purposes to grow out primary nasal respiratory epithelial cell lines. These cell lines will be used for functional studies by testing virus replication in them. These functional studies will allow us to identify new primary immunodeficiencies that may present primarily as recurrent or persistent lower respiratory tract virus infections. Results with the potential to impact medical care will be relayed to the referring physicians and where applicable patients will be referred to other appropriate NIH protocols for additional clinical evaluation and treatment.

The study will enroll up to 200 patients and healthy volunteers over the next 15 years.

Study Timeline

• Study First Submitted: 2009-05-07
• Study First Submitted QC: 2009-05-07
• Study First Posted: 2009-05-08
• Study Start: 2009-06-10
• Status Verified: 2025-03-26
• Last Update Submitted: 2025-05-17
• Last Update Posted: 2025-05-20

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Generate fibroblast, dermal, or other skin-resident cell lines	Over the lifetime of the study	Obtain skin punch biopsies to generate fibroblast, dermal, or other skin-resident cell lines in patients who previously underwent HSCT. Cells may also be used for somatic cell hybridization, cell complementation, assessing fibroblast-specific innate immune responses, or other genetic techniques.

Trial Locations

Locations (1)

National Institutes of Health Clinical Center; 🇺🇸 Bethesda, Maryland, United States