Scientists collect skin cells to pave way for future immune disease cures
NCT ID NCT00895271
First seen Jun 25, 2026 · Last updated Sep 01, 2026 · Updated 23 times
Summary
This study collects small skin samples from people with primary immunodeficiency or immune regulation disorders, as well as from healthy volunteers. Researchers will use these cells to create cell lines for laboratory research. The goal is to better understand immune diseases and explore possibilities for personalized gene therapies in the future.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this research could help develop personalized gene therapies for immune diseases in the future.
- What could go wrong
- This is an early-stage tissue collection study, not a treatment trial. It may not lead to any therapy, and results are years away.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
About 200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Jun 2009
- Lead sponsor
-
A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Up to 150 patients with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders, and up to 50 healthy volunteers as controls. Patients and healthy volunteers, who are first evaluated under another NIAID protocol (such as 05-I-0213 or 06-I-0015) and others, may be offered the opportunity to participate in this protocol.
- Ages
-
2 to 85 years
- Sex
-
Anyone
- Healthy volunteers
-
Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Patients: 1. To be enrolled in this study, a patient must be \>=2 years of age but not \>85 years of age, 2. have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient), 3. be concurrently enrolled on an NIH IRB approved NIAID protocol that includes genetic testing for disease of the immune system, such as but not limited to 05-I-0213 or 06-I-0015 Patient Relative: To be enrolled in this study, a patient relative must be: 1. A biological relative of a participant being studied under this protocol. Relatives may be biological mother, father, sibling, children, grandparents, aunts, uncles and first cousins. a. A minor relative of the proban participant must demonstrate that they are asymptomatic carriers or are at risk for the disease 2. be concurrently enrolled on an NIH IRB approved protocol that includes genetic testing for disease of the immune system, such as but not limited to 05-I-0213 or 06-I-0015. 3. Greater than or equal to 8 years of age but not greater than 85 years of age, Healthy 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 or the Patient Relative are not eligible to be in this trial if:: 1. Platelet count less than 20,000/microL 2. The individual 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. 4. For Nasal Scraping: a history of turbinectomy or significant nasal pathology that would preclude obtaining mucosal scrape biopsies. A Healthy Volunteer is not eligible to be in this trial if they: 1. Areless than 18 years old or older than 85 years 2. Weighs less than 110 pounds 3. Are pregnant or breastfeeding 4. Are 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. Have 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. Have a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for DOCK8 are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
-
The places running it
1 site. The list below names each one and where it is.
-
The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
-
A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
-
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Are hidden immune defects causing your recurring infections? new study investigates.
- Does the pfizer vaccine work as well in immunosuppressed people? new study aims to find out
- New immune boost for rare immune disorder? small trial underway
- Massive study seeks genetic clues to immune disorders
- New study to measure how immune disorders impact Kids' happiness
- Hidden lung damage common in immune deficiency patients