Primary ImmunodeficiencyNCT00895271
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
An observational study of Primary Immunodeficiency and DOCK8, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Jun 2009to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 85 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Patients:
- To be enrolled in this study, a patient must be >=2 years of age but not >85 years of age,
- have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient),
- 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:
- 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.
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- A minor relative of the proban participant must demonstrate that they are asymptomatic carriers or are at risk for the disease
- 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.
- 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:
- Be enrolled on protocol 05-I-0213.
- Be a healthy adult of either sex and between ages of 18 years and 85 years
Who cannot join
- Patients or the Patient Relative are not eligible to be in this trial if::
- Platelet count less than 20,000/microL
- The individual is hemodynamically unstable because of acute bleeding.
- 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.
- 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:
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- Areless than 18 years old or older than 85 years
- Weighs less than 110 pounds
- Are pregnant or breastfeeding
- Are receiving a chemotherapeutic agent(s) or has a malignancy
- Cannot avoid taking aspirin or non-steroidal anti-inflammatory medications during the 7 days preceding skin biopsy
- 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.
- Have been diagnosed as having viral hepatitis (B or C), human immunodeficiency virus (HIV), or a carrier for methicillin-resistant Staphylococcus aureus (MRSA)
- Hemoglobin measurement is less than 12.0 g/dL
- Platelet count less than 150,000/(micro)L
- PT greater than 15.0 seconds or PTT greater than 40 seconds
- Have a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
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.
Read more
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.
Read the 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 27 years.
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Keywords
- FIBROBLAST, Skin Biopsy, Innate Immunity, Induced Pluripotent, Natural History, Primary Immunodeficiency, Immunodysregulation, Common Variable Immunodeficiency, Severe Combined Immunodeficiency, Healthy Volunteer, HV
- Medical subject headings
- Primary Immunodeficiency Diseases, Common Variable Immunodeficiency, Severe Combined Immunodeficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Up to 50 subjects as healthy controls | |
| Immunodeficiency | Up to 150 subjects with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders |
What is being measured
The primary outcome is the main question the study is designed to answer.
Generate fibroblast, dermal, or other skin-resident cell lines
Obtain skin punch biopsies to generate fibroblast, dermal, or other skin-resident cell lines in patients who previously underwent HSCT. Cells may also be used for somatic cell hybridization, cell complementation, assessing fibroblast-specific innate immune responses, or other genetic techniques.
Measured: Over the lifetime of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 May 2009 (estimated)
- Study start10 Jun 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Primary ImmunodeficiencyStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Helen C Su, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00895271
- Sponsor's protocol ID
- 090133
- Other IDs
- 09-I-0133
- Status last verified
- 2 Oct 2026
- First submitted
- 7 May 2009
- Last updated
- 27 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: There isn't any data generated on this study that is relevant or shareable to any individual participant. Data obtained from iPS line growth is not medically actionable and therefor will not be reported back or shared with the participant.
Publications
Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.
PubMed 30143481Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.
PubMed 28606988
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishing Fibroblast-derived Cell Lines From Skin/Tissue Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
- ClinicalTrials.gov ID
- NCT00895271
- Acronym / sponsor ID
- 090133
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Keywords
- FIBROBLAST, Skin Biopsy, Innate Immunity, Induced Pluripotent, Natural History, Primary Immunodeficiency, Immunodysregulation, Common Variable Immunodeficiency
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 10 Jun 2009 (actual)
- First posted
- 8 May 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 27 years.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | –Up to 50 subjects as healthy controls |
| Immunodeficiency | – | –Up to 150 subjects with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders |
Who may qualify
- Ages
- 2 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (13 listed)
- To be enrolled in this study, a patient must be >=2 years of age but not >85 years of age,
- have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient),
- 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
- 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.
- 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.
Key exclusion criteria (17 listed)
- Platelet count less than 20,000/microL
- The individual is hemodynamically unstable because of acute bleeding.
- 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.
- For Nasal Scraping: a history of turbinectomy or significant nasal pathology that would preclude obtaining mucosal scrape biopsies.
- Areless than 18 years old or older than 85 years
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Generate fibroblast, dermal, or other skin-resident cell lines
Time frame: Over the lifetime of the study
Obtain skin punch biopsies to generate fibroblast, dermal, or other skin-resident cell lines in patients who previously underwent HSCT. Cells may also be used for somatic cell hybridization, cell complementation, assessing fibroblast-specific innate immune responses, or other genetic techniques.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
- Background: PubMed 30143481Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.
- Background: PubMed 28606988Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No. There isn't any data generated on this study that is relevant or shareable to any individual participant. Data obtained from iPS line growth is not medically actionable and therefor will not be reported back or shared with the participant.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Helen C Su, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immunodeficiency and DOCK8, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 17 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Generate fibroblast, dermal, or other skin-resident cell lines (time frame: Over the lifetime of the study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00895271, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Oct 2026.