Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
Listed as NCT00895271, this observational or N/A phase trial focuses on DOCK8 and Primary Immunodeficiency and remains ongoing. Sponsored by National Institute of Allergy and Infectious Diseases (NIAID), it has been updated 79 times since 2009, reflecting substantial change activity. This study adds to the evidence base for this therapeutic area through structured, versioned documentation.
Study Description(click to expand)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...
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 27 years.
Status Flow
Change History
79 versions recorded-
Apr 28, 2026 — Present [daily]
Enrolling By Invitation
-
Mar 2026 — Apr 2026 [monthly]
Enrolling By Invitation
-
Feb 2026 — Mar 2026 [monthly]
Enrolling By Invitation
-
Jan 2026 — Feb 2026 [monthly]
Enrolling By Invitation
-
Dec 2025 — Jan 2026 [monthly]
Enrolling By Invitation
▶ Show 74 earlier versions
-
Oct 2025 — Dec 2025 [monthly]
Enrolling By Invitation
-
Sep 2025 — Oct 2025 [monthly]
Enrolling By Invitation
-
Aug 2025 — Sep 2025 [monthly]
Enrolling By Invitation
-
Jul 2025 — Aug 2025 [monthly]
Enrolling By Invitation
-
Jun 2025 — Jul 2025 [monthly]
Enrolling By Invitation
-
May 2025 — Jun 2025 [monthly]
Enrolling By Invitation
-
Apr 2025 — May 2025 [monthly]
Enrolling By Invitation
-
Mar 2025 — Apr 2025 [monthly]
Enrolling By Invitation
-
Feb 2025 — Mar 2025 [monthly]
Enrolling By Invitation
-
Jan 2025 — Feb 2025 [monthly]
Enrolling By Invitation
-
Dec 2024 — Jan 2025 [monthly]
Enrolling By Invitation
-
Nov 2024 — Dec 2024 [monthly]
Enrolling By Invitation
-
Oct 2024 — Nov 2024 [monthly]
Enrolling By Invitation
-
Sep 2024 — Oct 2024 [monthly]
Enrolling By Invitation
-
Aug 2024 — Sep 2024 [monthly]
Enrolling By Invitation
-
Jul 2024 — Aug 2024 [monthly]
Enrolling By Invitation
-
Jun 2024 — Jul 2024 [monthly]
Enrolling By Invitation
-
May 2024 — Jun 2024 [monthly]
Enrolling By Invitation
-
Apr 2024 — May 2024 [monthly]
Enrolling By Invitation
-
Mar 2024 — Apr 2024 [monthly]
Enrolling By Invitation
-
Feb 2024 — Mar 2024 [monthly]
Enrolling By Invitation
-
Jan 2024 — Feb 2024 [monthly]
Enrolling By Invitation
-
Dec 2023 — Jan 2024 [monthly]
Enrolling By Invitation
-
Nov 2023 — Dec 2023 [monthly]
Enrolling By Invitation
-
Oct 2023 — Nov 2023 [monthly]
Enrolling By Invitation
-
Sep 2023 — Oct 2023 [monthly]
Enrolling By Invitation
-
Aug 2023 — Sep 2023 [monthly]
Enrolling By Invitation
-
Jul 2023 — Aug 2023 [monthly]
Enrolling By Invitation
-
Jun 2023 — Jul 2023 [monthly]
Enrolling By Invitation
-
Apr 2023 — Jun 2023 [monthly]
Enrolling By Invitation
-
Mar 2023 — Apr 2023 [monthly]
Enrolling By Invitation
-
Feb 2023 — Mar 2023 [monthly]
Enrolling By Invitation
-
Jan 2023 — Feb 2023 [monthly]
Enrolling By Invitation
-
Dec 2022 — Jan 2023 [monthly]
Enrolling By Invitation
-
Nov 2022 — Dec 2022 [monthly]
Enrolling By Invitation
-
Sep 2022 — Nov 2022 [monthly]
Enrolling By Invitation
-
Jul 2022 — Sep 2022 [monthly]
Enrolling By Invitation
-
Jun 2022 — Jul 2022 [monthly]
Enrolling By Invitation
-
May 2022 — Jun 2022 [monthly]
Enrolling By Invitation
Status: Recruiting → Enrolling By Invitation
-
Apr 2022 — May 2022 [monthly]
Recruiting
-
Feb 2022 — Apr 2022 [monthly]
Recruiting
-
Jan 2022 — Feb 2022 [monthly]
Recruiting
-
Dec 2021 — Jan 2022 [monthly]
Recruiting
-
Nov 2021 — Dec 2021 [monthly]
Recruiting
-
Oct 2021 — Nov 2021 [monthly]
Recruiting
-
Sep 2021 — Oct 2021 [monthly]
Recruiting
-
Jun 2021 — Sep 2021 [monthly]
Recruiting
Status: Enrolling By Invitation → Recruiting
-
May 2021 — Jun 2021 [monthly]
Enrolling By Invitation
-
Apr 2021 — May 2021 [monthly]
Enrolling By Invitation
-
Mar 2021 — Apr 2021 [monthly]
Enrolling By Invitation
-
Feb 2021 — Mar 2021 [monthly]
Enrolling By Invitation
-
Jan 2021 — Feb 2021 [monthly]
Enrolling By Invitation
-
Dec 2020 — Jan 2021 [monthly]
Enrolling By Invitation
-
Nov 2020 — Dec 2020 [monthly]
Enrolling By Invitation
-
Oct 2020 — Nov 2020 [monthly]
Enrolling By Invitation
-
Sep 2020 — Oct 2020 [monthly]
Enrolling By Invitation
-
Aug 2020 — Sep 2020 [monthly]
Enrolling By Invitation
-
Jul 2020 — Aug 2020 [monthly]
Enrolling By Invitation
-
Jun 2020 — Jul 2020 [monthly]
Enrolling By Invitation
-
May 2020 — Jun 2020 [monthly]
Enrolling By Invitation
-
Apr 2020 — May 2020 [monthly]
Enrolling By Invitation
-
Mar 2020 — Apr 2020 [monthly]
Enrolling By Invitation
-
Jan 2020 — Mar 2020 [monthly]
Enrolling By Invitation
-
Dec 2019 — Jan 2020 [monthly]
Enrolling By Invitation
-
Sep 2019 — Dec 2019 [monthly]
Enrolling By Invitation
Status: Recruiting → Enrolling By Invitation
-
Aug 2019 — Sep 2019 [monthly]
Recruiting
-
Feb 2019 — Aug 2019 [monthly]
Recruiting
-
Dec 2018 — Feb 2019 [monthly]
Recruiting
-
Sep 2018 — Dec 2018 [monthly]
Recruiting
-
Aug 2018 — Sep 2018 [monthly]
Recruiting
-
Jul 2018 — Aug 2018 [monthly]
Recruiting
-
Jun 2018 — Jul 2018 [monthly]
Recruiting
-
Apr 2018 — Jun 2018 [monthly]
Recruiting
Phase: NA → None
-
Jan 2017 — Apr 2018 [monthly]
Recruiting NA
First recorded
Jun 2009
Trial started
Per CT.gov start date — pre-dates our first snapshot
Eligibility 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.
Contact Information
- National Institute of Allergy and Infectious Diseases (NIAID)
For direct contact, visit the study record on ClinicalTrials.gov .