Protocol Number: 09-I-0133

Title:

Establishing Fibroblast-derived Cell Lines from Skin Biopsies of Patients with Immunodeficiency or Immunodysregulation Disorders

Number:

09-I-0133

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.

Sponsoring Institute:

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Patients:

To be enrolled in this study, a patient must be greater than or equal to 2 years of age but not greater than 85 years of age, have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient), and be concurrently enrolled on either protocol 05-I-0213 or 06-I-0015.

Normal Volunteers:

To be enrolled in this study, a normal volunteer must fulfill all of the following criteria:

-1. Be enrolled on protocol 05-I-0213.

-2. Be a healthy adult of either sex and between ages of 18 years and 85 years

EXCLUSION CRITERIA:

Patients with a primary immunodeficiency or immunodysregulation disorder (or a blood relative of such a patient) are not eligible to be in this trial if:

-1. Platelet count less than 20,000/(micro)L

-2. Patient is hemodynamically unstable because of acute bleeding.

-3. 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.

A Normal Volunteer is not eligible to be in this trial if he or she fulfills any of the following criteria:

-1. Less than 18 years old or older than 85 years

-2. Weighs less than 110 pounds

-3. Is pregnant or breastfeeding

-4. Is receiving a chemotherapeutic agent(s) or has a malignancy

-5. Cannot avoid taking aspirin or non-steroidal anti-inflammatory medications during the 7 days preceding skin biopsy

-6. 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.

-7. Has been diagnosed as having viral hepatitis (B or C), human immunodeficiency virus (HIV), or a carrier for methicillin-resistant Staphylococcus aureus (MRSA)

-8. Hemoglobin measurement is less than 12.0 g/dL

-9. Platelet count less than 150,000/(micro)L

-10. PT greater than 15.0 seconds or PTT greater than 40 seconds

-11. Has a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.

Special Instructions:

Currently Not Provided

Keywords:

Primary Immunodeficiency

Immunodysregulation

Skin Biopsy

Induced Pluripotent Stem Cell (iPS)

Lymphocyte

Recruitment Keyword(s):

Primary Immunodeficiency

Immunodysregulation

Common Variable Immunodeficiency

Severe Combined Immunodeficiency

Healthy Volunteer

HV

Condition(s):

Lymphohistiocytosis, Hemophagocytic

Common Variable Immunodeficiency

Severe Combined Immunodeficiency

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Allergy and Infectious Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Su HC, Lenardo MJ. Genetic defects of apoptosis and primary immunodeficiency. Immunol Allergy Clin North Am. 2008 May;28(2):329-51, ix.

Su HC. The technological transformation of patient-driven human immunology research. Immunol Res. 2009;43(1-3):167-71.

Schuster SC. Next-generation sequencing transforms today's biology. Nat Methods. 2008 Jan;5(1):16-8. Epub 2007 Dec 19.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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