Chronic Granulomatous Disease (CGD)NCT00128973
Evaluation of Patients With Immune Function Abnormalities
An observational study of Chronic Granulomatous Disease (CGD) and X-Linked Severe Combined Immune Deficiency (XSCID), run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD)
- Type of treatment
- Injection or infusion
- How many people
- 3,500 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Sep 2005to 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Self referred, Physician referred
Who may be able to join
- Patients:
- To be eligible to participate in this study as a patient, an individual must meet the following criteria:
- Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.
- Have an abnormality of immune function as manifested by:
- recurrent or unusual infections,
- recurrent or chronic inflammation, or
Show all 21Show fewer
- previous laboratory evidence of immune dysfunction.
- Have a primary physician outside of the NIH.
- Relatives of Patient:
- To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:
- Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient.
- --Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.
- Be willing to have blood stored for future studies and/or other research purposes.
- Healthy Volunteers:
- To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:
- Be a healthy adult of either sex and between age of 18 and 85 years old.
- Have a hemoglobin count of >=11.
- Weight greater than 110 pounds.
- Not have a history of intravenous injection drug use.
- Not have a history of engaging in high-risk activities for exposure to HIV.
- Be willing to have their blood samples stored for future research and modified to iPS cells.
Who cannot join
- Patients and Relatives of Patient:
- In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative of a patient. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus.
- Healthy Volunteers:
- An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:
- Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
- Receiving chemotherapeutic agent(s) or have underlying malignancy.
- Pregnant.
- Have history of heart, lung, kidney disease, or bleeding disorders.
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, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Screening and Baseline Assessment of Patients With Abnormalities of Immune Function
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.
Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.
Read more
Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:
- Medical history and physical examination.
- Blood and urine tests, including analysis for genes involved in immune disorders.
- Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.
- Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations.
- Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:
- Medical history update
- Physical examination
- Follow-up on abnormal test results and medical treatments initiated at NIH
- Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies
- Tissue study of specimens removed for medical reasons at other institutions besides NIH
Read the detailed description
This protocol is designed for the screening and baseline assessment of and collection of research samples from patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. After baseline assessments are complete, participants will remain on study to allow long-term assessments of the natural course of their condition. Abnormalities of immune function may be inherited or may be iatrogenic such as that following hematopoietic stem cell transplantation or other treatments resulting in prolonged immune dysfunction. Blood and/or bone marrow cells may also be used to investigate the utility of induced pluripotent stem cells (iPS) for immune cell derivation and targeted gene correction. This is not a protocol to study or screen for human immunodeficiency virus (HIV) infection, though patients with HIV infection who may have other causes for immune dysfunction are not excluded. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Healthy Volunteers will be enrolled as a source of control blood samples for research testing, not to include genetic testing. Patients with documented immune dysfunction may receive limited medically indicated treatment if that medically indicated treatment is related to the abnormality of immune function under study. Results of clinically indicated diagnostic evaluations and treatments performed outside of this protocol may be collected for research use as part of this study. When screening and assessment is complete, patients will be offered an opportunity to participate in another study, or if there are no active studies appropriate for the patient, other options will be suggested to the primary or referring physician. Regardless of whether the patient enrolls on another NIH study, they will remain on this study for long-term follow-up of their condition.
This protocol will allow detailed long-term investigation of patients with abnormalities of immune function with the following goals:
- To determine the degree, scope, and cause of immune dysfunction;
- To establish the pace and pattern of change in the disease process;
- To determine the extent of organ involvement and damage from immune dysfunction.
The assessments performed under this protocol are necessary to discover new causes of immune abnormalities, to delineate epidemiology of immune deficiencies, to develop new diagnostic and therapeutic tools, and to determine a patient s eligibility for other studies.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Keywords
- Infection, Genetic, Inherited Disease, Immunity, Chronic, Abnormal Immune Function, Recurrent Infection, Chronic Granulomatous Disease, CGD, X-Linked Severe Combined Immune Deficiency (XSCID), XSCID, Leukocyte Adhesion Deficiency 1, LAD, Healthy Volunteer, HV
- Medical subject headings
- Granulomatous Disease, Chronic, Graft vs Host Disease, Bronchiolitis Obliterans Syndrome, Infections, Genetic Diseases, Inborn, Reinfection, X-Linked Combined Immunodeficiency Diseases
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 | Healthy adult M/F 18-85 y/o.Hgb>=11.Wt>110 lbs. No heart,lung,kidney,bleeding disorders. No hep BorC since age 11. No IV drug use. No exposure to the AIDS virus. Not pregnant. | |
| Patients | Patients with abnormalities of immune function | |
| Relatives of Patient: | Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient. |
What is being measured
The primary outcome is the main question the study is designed to answer.
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment.
Identification pregression and pattern of disease over time
Measured: ongoing throughout study
To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.
Identification of severity of disease as it relates to immune function in PID
Measured: ongoing throughout study
To determine genetic linkage and biochemical correlates of the patient s abnormality of immunity by study of first and second-degree related family members blood cells (buccal smears instead of blood for genetic studies in some individuals)...
Identification of genetic links and biochemical correlates of PID to clinical manifestations
Measured: ongoing throughout study
To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity.
Identification of the pathophysiology and genetic basis of abnormalities of immune function under study
Measured: ongoing throughout study
Secondary outcomes (3)
To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial.
Identification of best time with respect to disease process to place pts on a treatment protocol
Measured: ongoing throughout study
To determine a patient s eligibility for other studies.
Patient recruitment to treatment protocols
Measured: ongoing throughout study
To assess the patient s ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols.
Patients tolerate treatment for PID disease
Measured: ongoing throughout study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Aug 2005 (estimated)
- Study start19 Sep 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Chronic Granulomatous Disease (CGD)Studies 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 3,500 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Harry L Malech, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00128973
- Sponsor's protocol ID
- 050213
- Other IDs
- 05-I-0213
- Status last verified
- 7 Jul 2026
- First submitted
- 9 Aug 2005
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57. doi: 10.1016/0092-8674(93)90167-o.
PubMed 8462096Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug;2(8):1099-104. doi: 10.1093/hmg/2.8.1099.
PubMed 8401490Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993 Oct;123(4):564-72. doi: 10.1016/s0022-3476(05)80951-5.
PubMed 8410508Zalewski CK, Kim HJ, Brewer CC, Martinez S, Rieger C, Cho E, McDermott DH, Murphy PM. The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome. Otolaryngol Head Neck Surg. 2026 Aug 17. doi: 10.1002/ohn.70396. Online ahead of print.
PubMed 42606118Strong J, Adhanom R, Kim CS, Saito Y, Meltzer JC, Hallaert P, Martinez S, Salancy A, Kong HH, Cowen EW, Castelo-Soccio L, Murphy PM, McDermott DH, Brownell I. Risk of Superficial Fungal Infections in WHIM Syndrome. Dermatol Ther (Heidelb). 2025 May;15(5):1173-1179. doi: 10.1007/s13555-025-01396-0. Epub 2025 Apr 3.
PubMed 40178760De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.
PubMed 20489056
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening and Baseline Assessment of Patients With Abnormalities of Immune Function
- ClinicalTrials.gov ID
- NCT00128973
- Acronym / sponsor ID
- 050213
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Keywords
- Infection, Genetic, Inherited Disease, Immunity, Chronic, Abnormal Immune Function, Recurrent Infection, Chronic Granulomatous Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,500 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 19 Sep 2005 (actual)
- First posted
- 10 Aug 2005 (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.
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.
Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.
Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:
- Medical history and physical examination.
- Blood and urine tests, including analysis for genes involved in immune disorders.
- Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.
- Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations.
- Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:
- Medical history update
- Physical examination
- Follow-up on abnormal test results and medical treatments initiated at NIH
- Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies
- Tissue study of specimens removed for medical reasons at other institutions besides NIH
Detailed description
This protocol is designed for the screening and baseline assessment of and collection of research samples from patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. After baseline assessments are complete, participants will remain on study to allow long-term assessments of the natural course of their condition. Abnormalities of immune function may be inherited or may be iatrogenic such as that following hematopoietic stem cell transplantation or other treatments resulting in prolonged immune dysfunction. Blood and/or bone marrow cells may also be used to investigate the utility of induced pluripotent stem cells (iPS) for immune cell derivation and targeted gene correction. This is not a protocol to study or screen for human immunodeficiency virus (HIV) infection, though patients with HIV infection who may have other causes for immune dysfunction are not excluded. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Healthy Volunteers will be enrolled as a source of control blood samples for research testing, not to include genetic testing. Patients with documented immune dysfunction may receive limited medically indicated treatment if that medically indicated treatment is related to the abnormality of immune function under study. Results of clinically indicated diagnostic evaluations and treatments performed outside of this protocol may be collected for research use as part of this study. When screening and assessment is complete, patients will be offered an opportunity to participate in another study, or if there are no active studies appropriate for the patient, other options will be suggested to the primary or referring physician. Regardless of whether the patient enrolls on another NIH study, they will remain on this study for long-term follow-up of their condition.
This protocol will allow detailed long-term investigation of patients with abnormalities of immune function with the following goals:
- To determine the degree, scope, and cause of immune dysfunction;
- To establish the pace and pattern of change in the disease process;
- To determine the extent of organ involvement and damage from immune dysfunction.
The assessments performed under this protocol are necessary to discover new causes of immune abnormalities, to delineate epidemiology of immune deficiencies, to develop new diagnostic and therapeutic tools, and to determine a patient s eligibility for other studies.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | –Healthy adult M/F 18-85 y/o.Hgb>=11.Wt>110 lbs. No heart,lung,kidney,bleeding disorders. No hep BorC since age 11. No IV drug use. No exposure to the AIDS virus. Not pregnant. |
| Patients | – | –Patients with abnormalities of immune function |
| Relatives of Patient: | – | –Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Self referred, Physician referred
Key inclusion criteria (21 listed)
- To be eligible to participate in this study as a patient, an individual must meet the following criteria:
- Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.
- Have an abnormality of immune function as manifested by:
- Have a primary physician outside of the NIH.
- To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:
Key exclusion criteria (8 listed)
- In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative of a patient. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus.
- An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:
- Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
- Receiving chemotherapeutic agent(s) or have underlying malignancy.
- Pregnant.
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
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment.
Time frame: ongoing throughout study
Identification pregression and pattern of disease over time
To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.
Time frame: ongoing throughout study
Identification of severity of disease as it relates to immune function in PID
To determine genetic linkage and biochemical correlates of the patient s abnormality of immunity by study of first and second-degree related family members blood cells (buccal smears instead of blood for genetic studies in some individuals)...
Time frame: ongoing throughout study
Identification of genetic links and biochemical correlates of PID to clinical manifestations
To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity.
Time frame: ongoing throughout study
Identification of the pathophysiology and genetic basis of abnormalities of immune function under study
3 secondary outcomes
To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial.
Time frame: ongoing throughout study
To determine a patient s eligibility for other studies.
Time frame: ongoing throughout study
To assess the patient s ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols.
Time frame: ongoing throughout study
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 16 Oct 2026.
- Background: PubMed 8462096Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57. doi: 10.1016/0092-8674(93)90167-o.
- Background: PubMed 8401490Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug;2(8):1099-104. doi: 10.1093/hmg/2.8.1099.
- Background: PubMed 8410508Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993 Oct;123(4):564-72. doi: 10.1016/s0022-3476(05)80951-5.
- Derived from this study: PubMed 42606118Zalewski CK, Kim HJ, Brewer CC, Martinez S, Rieger C, Cho E, McDermott DH, Murphy PM. The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome. Otolaryngol Head Neck Surg. 2026 Aug 17. doi: 10.1002/ohn.70396. Online ahead of print.
- Derived from this study: PubMed 40178760Strong J, Adhanom R, Kim CS, Saito Y, Meltzer JC, Hallaert P, Martinez S, Salancy A, Kong HH, Cowen EW, Castelo-Soccio L, Murphy PM, McDermott DH, Brownell I. Risk of Superficial Fungal Infections in WHIM Syndrome. Dermatol Ther (Heidelb). 2025 May;15(5):1173-1179. doi: 10.1007/s13555-025-01396-0. Epub 2025 Apr 3.
- Derived from this study: PubMed 20489056De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Harry L Malech, 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 Chronic Granulomatous Disease (CGD) and X-Linked Severe Combined Immune Deficiency (XSCID), 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 21 inclusion and 8 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: looking for participants now, as of the sponsor's last update on 16 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?
Contact Patricia L Littel, R.N. ((301) 335-1744, plittel@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment. (time frame: ongoing throughout study). The study lists 4 primary outcomes in all. 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 NCT00128973, which also lists 6 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 16 Oct 2026; AzTrials last refreshed its copy on 27 Oct 2026.