Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
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|ClinicalTrials.gov Identifier: NCT00895271|
Recruitment Status : Enrolling by invitation
First Posted : May 8, 2009
Last Update Posted : November 30, 2020
- 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.
- To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes.
- 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.
- 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.
|Condition or disease|
|Primary Immunodeficiency DOCK8|
|Study Type :||Observational|
|Actual Enrollment :||97 participants|
|Official Title:||Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders|
|Actual Study Start Date :||June 10, 2009|
Up to 50 subjects as healthy controls
Up to 150 subjects with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders
- Generate fibroblast, dermal, or other skin-resident cell lines [ Time Frame: 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.
- Generate induced pluripotent stem cells (iPS) from skin cells [ Time Frame: Over the lifetime of the study ]Generate induced pluripotent stem cells (iPS) from skin cells of patients or health volunteers, serving as controls.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00895271
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Helen C Su, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|