Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
- 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.
Common Variable Immunodeficiency
Severe Combined Immunodeficiency
|Study Design:||Time Perspective: Retrospective|
|Official Title:||Establishing Fibroblast-derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders|
|Study Start Date:||May 2009|
This protocol is designed as an adjunct to other NIAID IRB approved protocols that allow for genetic testing, which may include those that are screening protocols for patients with rare primary inmmnodeficiency 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 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. 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 5 years.
|Contact: Thomas H Dimaggio, R.N.||(301) firstname.lastname@example.org|
|Contact: Helen C Su, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Helen C Su, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|