Wiskott- Aldrich SyndromeNCT00006319
Molecular and Clinical Studies of Primary Immunodeficiency Diseases
An observational study of Wiskott- Aldrich Syndrome and ADA Deficient SCID, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Wiskott- Aldrich Syndrome, ADA Deficient SCID
- How many people
- 266 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Oct 2000to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
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 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Male patients with Wiskott-Aldrich syndrome and patients with ADA deficient SCID@@@
Who may be able to join
- Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome and their family members are eligible for inclusion in this study and they may be referred by their physician or self-referred. If possible, a local physician/clinical immunologist will be identified for self-referred patients to serve as primary reference. If screening of the patients, either by phone interview or review of their medical records indicates that the patient may have a primary immunodeficiency syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an informed consent. If family history is positive for immunodeficiency, the patients or family members may be asked to invite other relatives to contact the PI to participate in the study.
- Patients who were enrolled under such inclusion criteria may continue to be seen under the protocol under the medical advisory supervision of Dr. Harry Malech. New enrollments will be limited to children with established and verified diagnosis of ADA-SCID cared for by our collaborators at UCLA and from whom we will only
- receive blood samples.
Who cannot join
- Inability of the subject or the subject s parent/guardian to provide informed consent.
- Patients infected with the Human Immunodeficiency Virus before enrollment.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.
Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:
Read more
- Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study
- Urine and saliva tests for biochemical studies
- Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.
- Skin and lymph node biopsies for tissue and DNA studies
- Chest X-ray, CT scans, or both to look for cancer or various infections.
- Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.
- Dental, skin and eye examinations.
- Treatment with intravenous immunoglobulins or antibodies to prevent infections.
- Apheresis for collecting white blood cells to study cell function. In this procedure, whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle or through a second needle placed in the other arm.
- Bone marrow sampling to study the disease. A small amount of marrow from the hipbone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation.
- Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells).
Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.
Read the detailed description
The purpose of this protocol is to study patients with primary immunodeficiency disorders with the goal of contributing to both the clinical and molecular understanding of this heterogeneous group of inherited diseases. Clinical issues to be addressed will include disease manifestations and evolution, as well prevention and management of medical problems. Patients with diseases of known molecular basis (including Wiskott-Aldrich syndrome, ADA deficiency, JAK3 deficiency and other syndromes) will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with hopes of contributing to the identification of specific genes responsible for disease. Studies of fresh cells, cell lines and tissue samples will be performed to help characterize the patient s syndrome as well as to test the efficacy of genetic correction when available.
The outcome we seek is to improve our knowledge of the molecular basis, clinical presentation and evolution of primary immunodeficiency diseases and to collaborate to maintain or improve the health status of our patients. No investigational clinical interventions are planned under this protocol. It is anticipated that additional protocols will be generated from preliminary data gathered in this umbrella study.
- Conditions
- Wiskott- Aldrich Syndrome, ADA Deficient SCID
- Keywords
- X-Linked Agammagloblinemia, Wiskott-Aldrich Syndrome, Jak-3 SCID, X-Linked SCID, X-Linked Hyper-IgM Syndrome, Natural History
- Medical subject headings
- Wiskott-Aldrich Syndrome, X-Linked Combined Immunodeficiency Diseases, Hyper-IgM Immunodeficiency Syndrome
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 |
|---|---|---|
| ADA deficient SCID | Patients with ADA deficient SCID | |
| Wiskott-Aldrich syndrome | Male patients with Wiskott-Aldrich syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
To broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.
to broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Oct 2000 (estimated)
- Study start25 Oct 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Wiskott- Aldrich SyndromeStudies of the same condition, open and under way.
- 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
- Prospective
- Enrolment
- 266 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Elizabeth K Garabedian, R.N., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00006319
- Sponsor's protocol ID
- 000209
- Other IDs
- 00-HG-0209
- Status last verified
- 13 Oct 2023
- First submitted
- 30 Sep 2000
- Last updated
- 19 Sep 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1.
PubMed 21725047
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular and Clinical Studies of Primary Immunodeficiency Diseases
- ClinicalTrials.gov ID
- NCT00006319
- Acronym / sponsor ID
- 000209
- Conditions
- Wiskott- Aldrich Syndrome, ADA Deficient SCID
- Keywords
- X-Linked Agammagloblinemia, Wiskott-Aldrich Syndrome, Jak-3 SCID, X-Linked SCID, X-Linked Hyper-IgM Syndrome, Natural History
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 266 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 25 Oct 2000 (actual)
- First posted
- 2 Oct 2000 (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 try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.
Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:
- Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study
- Urine and saliva tests for biochemical studies
- Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.
- Skin and lymph node biopsies for tissue and DNA studies
- Chest X-ray, CT scans, or both to look for cancer or various infections.
- Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.
- Dental, skin and eye examinations.
- Treatment with intravenous immunoglobulins or antibodies to prevent infections.
- Apheresis for collecting white blood cells to study cell function. In this procedure, whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle or through a second needle placed in the other arm.
- Bone marrow sampling to study the disease. A small amount of marrow from the hipbone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation.
- Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells).
Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.
Detailed description
The purpose of this protocol is to study patients with primary immunodeficiency disorders with the goal of contributing to both the clinical and molecular understanding of this heterogeneous group of inherited diseases. Clinical issues to be addressed will include disease manifestations and evolution, as well prevention and management of medical problems. Patients with diseases of known molecular basis (including Wiskott-Aldrich syndrome, ADA deficiency, JAK3 deficiency and other syndromes) will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with hopes of contributing to the identification of specific genes responsible for disease. Studies of fresh cells, cell lines and tissue samples will be performed to help characterize the patient s syndrome as well as to test the efficacy of genetic correction when available.
The outcome we seek is to improve our knowledge of the molecular basis, clinical presentation and evolution of primary immunodeficiency diseases and to collaborate to maintain or improve the health status of our patients. No investigational clinical interventions are planned under this protocol. It is anticipated that additional protocols will be generated from preliminary data gathered in this umbrella study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ADA deficient SCID | – | –Patients with ADA deficient SCID |
| Wiskott-Aldrich syndrome | – | –Male patients with Wiskott-Aldrich syndrome |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male patients with Wiskott-Aldrich syndrome and patients with ADA deficient SCID@@@
Key inclusion criteria (3 listed)
- Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome and their family members are eligible for inclusion in this study and they may be referred by their physician or self-referred. If possible, a local physician/clinical immunologist will be identified for self-referred patients to serve as primary reference. If screening of the patients, either by phone interview or review of their medical records indicates that the patient may have a primary immunodeficiency syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an informed consent. If family history is positive for immunodeficiency, the patients or family members may be asked to invite other relatives to contact the PI to participate in the study.
- Patients who were enrolled under such inclusion criteria may continue to be seen under the protocol under the medical advisory supervision of Dr. Harry Malech. New enrollments will be limited to children with established and verified diagnosis of ADA-SCID cared for by our collaborators at UCLA and from whom we will only
- receive blood samples.
Key exclusion criteria (2 listed)
- Inability of the subject or the subject s parent/guardian to provide informed consent.
- Patients infected with the Human Immunodeficiency Virus before enrollment.
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 broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.
Time frame: Ongoing
to broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Sep 2024.
- Derived from this study: PubMed 21725047Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1.
- 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. This study is not recruiting at the moment.
Elizabeth K Garabedian, R.N. principal investigator
National Human Genome Research Institute (NHGRI)
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 Wiskott- Aldrich Syndrome and ADA Deficient SCID, run by National Human Genome Research Institute (NHGRI) 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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 19 Sep 2024. 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?
Results are not available in the source record.
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?
To broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases. (time frame: Ongoing). 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 NCT00006319, which also lists 1 linked publication.
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 19 Sep 2024.