Viewing Study NCT00895271



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Last Modification Date: 2024-10-26 @ 10:05 AM
Study NCT ID: NCT00895271
Status: ENROLLING_BY_INVITATION
Last Update Posted: 2024-07-15
First Post: 2009-05-07

Brief Title: Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Sponsor: National Institute of Allergy and Infectious Diseases NIAID
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: Establishing Fibroblast-derived Cell Lines From SkinTissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Status: ENROLLING_BY_INVITATION
Status Verified Date: 2024-10-01
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
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 14 to 38 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 Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
09-I-0133 None None None