Primary ImmunodeficienciesNCT01953016
Participation in a Research Registry for Immune Disorders
An observational study of Primary Immunodeficiencies and APECED, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection. The Immune Deficiency Foundation has a network to collect data about people with PIDD. It is called the United States Immunodeficiency Network. Read more about this study
- Who is it for?
- Ages 1 month and older
- Conditions the study is for
- Primary Immunodeficiencies, APECED, CGD
- How many people
- 716 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Sep 2013to 19 Jul 2023
- 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 1 month and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration.@@@
Who may be able to join
- Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies will be accepted for registration. No healthy volunteers will be enrolled.
Who cannot join
- Individuals with immunodeficiency associated with HIV infection, chemotherapy or other immunosuppressive therapies will not be accepted for registration unless there is clear evidence that these individuals also have a genetically determined immunodeficiency disease as well. Adult individuals who do not give informed consent will also be excluded.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: NIH Participation to USIDNET Registry
Background:
- People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection. The Immune Deficiency Foundation has a network to collect data about people with PIDD. It is called the United States Immunodeficiency Network. It will help doctors and scientists better understand these disorders. The goal is to get medical data for everyone with these disorders in the U.S. and Canada. Data will be stored in a registry. Researchers can use it to study if these disorders are increasing. They can also learn how the disorders are diagnosed and treated.
Read more
Objectives:
- To collect data on people with primary immune deficiency disorders.
Eligibility:
- People who have a PIDD.
Design:
- Data can be added with no record of personal identity.
- Data can be added with identity kept separate. This data will be linked to the registry by a code number.
- Data for the registry includes:
- Family history
- Disease treatment
- Disease characteristics
- Medical history
- Laboratory data
Read the detailed description
The purpose of this protocol is to provide a resource for clinical and laboratory research through enrollment of known immunodeficiency patients into a national registry, the US Immunodeficiency Network (USIDNET). The registry data will expand NIH s and the nation s knowledge base about immune deficiency disorders and genetic mutations that lead to these disorders. Additional registrants from NIH protocols will not only increase the understanding of the molecular basis of these disorders, but also will serve to document and track the incidence and progression of complications.
Objectives and specific aims
The purpose of this proposal is to create a mechanism for depositing NIH data into USIDNET. The patient Registry is designed to obtain longitudinal data on a large number of patients with primary immunodeficiency diseases, and genetic carriers of these defects in order to:
- Learn more about the phenotypic variations seen in a large number of individual patients with the same rare molecular diagnosis.
- Determine the natural history of these genetic disorders of immunity and establish genotype-phenotype correlations.
- Learn effects of various treatment protocols used in these patients over time, including unexpected side effects that may be unique to a particular diagnostic group.
- To evaluate quality of life using standard tools and correlate these with genotype and treatment history.
- To promote collaborative research amongst interested investigators by identifying a larger pool of potential research subjects than would be available at their own institutions
- To identify patients with a specific diagnosis for potential participation in multi-institutional clinical trials designed for diagnosis or therapy or their specific disease.
- Conditions
- Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome, SCID
- Keywords
- Job Syndrome/HIES, GATA2, Primary Immunodeficiency, SCID, DOCK8, Natural History
- Medical subject headings
- Polyendocrinopathies, Autoimmune, Wiskott-Aldrich Syndrome, Primary 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 |
|---|---|---|
| immunodeficiency | Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence
The Registry will provide a minimum estimate of the prevalence of each disorder in the US, a comprehensive clinical picture of each disorder, and a resource for clinical and laboratory research.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2013 (estimated)
- Study start30 Sep 2013
- Primary completion1 May 2020
- Study completion19 Jul 2023
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 Primary ImmunodeficienciesStudies 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
- Other
- Enrolment
- 716 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Responsible party
- Sponsor
- Investigators
- Elizabeth K Garabedian, R.N., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01953016
- Sponsor's protocol ID
- 130199
- Other IDs
- 13-HG-0199
- Status last verified
- Jul 2023
- First submitted
- 25 Sep 2013
- Last updated
- 20 Jul 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Ruffner MA; USIDNET Body Weight Group; Sullivan KE. Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry. J Clin Immunol. 2018 Apr;38(3):283-293. doi: 10.1007/s10875-018-0492-0. Epub 2018 Apr 4.
PubMed 29619656
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NIH Participation to USIDNET Registry
- ClinicalTrials.gov ID
- NCT01953016
- Acronym / sponsor ID
- 130199
- Conditions
- Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome, SCID
- Keywords
- Job Syndrome/HIES, GATA2, Primary Immunodeficiency, SCID, DOCK8, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 716 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Collaborators
- National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Study start
- 30 Sep 2013 (actual)
- Primary completion
- 1 May 2020 (actual)
- Study completion
- 19 Jul 2023 (actual)
- First posted
- 30 Sep 2013 (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:
- People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection. The Immune Deficiency Foundation has a network to collect data about people with PIDD. It is called the United States Immunodeficiency Network. It will help doctors and scientists better understand these disorders. The goal is to get medical data for everyone with these disorders in the U.S. and Canada. Data will be stored in a registry. Researchers can use it to study if these disorders are increasing. They can also learn how the disorders are diagnosed and treated.
Objectives:
- To collect data on people with primary immune deficiency disorders.
Eligibility:
- People who have a PIDD.
Design:
- Data can be added with no record of personal identity.
- Data can be added with identity kept separate. This data will be linked to the registry by a code number.
- Data for the registry includes:
- Family history
- Disease treatment
- Disease characteristics
- Medical history
- Laboratory data
Detailed description
The purpose of this protocol is to provide a resource for clinical and laboratory research through enrollment of known immunodeficiency patients into a national registry, the US Immunodeficiency Network (USIDNET). The registry data will expand NIH s and the nation s knowledge base about immune deficiency disorders and genetic mutations that lead to these disorders. Additional registrants from NIH protocols will not only increase the understanding of the molecular basis of these disorders, but also will serve to document and track the incidence and progression of complications.
Objectives and specific aims
The purpose of this proposal is to create a mechanism for depositing NIH data into USIDNET. The patient Registry is designed to obtain longitudinal data on a large number of patients with primary immunodeficiency diseases, and genetic carriers of these defects in order to:
- Learn more about the phenotypic variations seen in a large number of individual patients with the same rare molecular diagnosis.
- Determine the natural history of these genetic disorders of immunity and establish genotype-phenotype correlations.
- Learn effects of various treatment protocols used in these patients over time, including unexpected side effects that may be unique to a particular diagnostic group.
- To evaluate quality of life using standard tools and correlate these with genotype and treatment history.
- To promote collaborative research amongst interested investigators by identifying a larger pool of potential research subjects than would be available at their own institutions
- To identify patients with a specific diagnosis for potential participation in multi-institutional clinical trials designed for diagnosis or therapy or their specific disease.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| immunodeficiency | – | –Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration. |
Who may qualify
- Ages
- 1 month and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration.@@@
Key inclusion criteria (1 listed)
- Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies will be accepted for registration. No healthy volunteers will be enrolled.
Key exclusion criteria (1 listed)
- Individuals with immunodeficiency associated with HIV infection, chemotherapy or other immunosuppressive therapies will not be accepted for registration unless there is clear evidence that these individuals also have a genetically determined immunodeficiency disease as well. Adult individuals who do not give informed consent will also be excluded.
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
Prevalence
Time frame: Ongoing
The Registry will provide a minimum estimate of the prevalence of each disorder in the US, a comprehensive clinical picture of each disorder, and a resource for clinical and laboratory research.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jul 2023.
- Derived from this study: PubMed 29619656Ruffner MA; USIDNET Body Weight Group; Sullivan KE. Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry. J Clin Immunol. 2018 Apr;38(3):283-293. doi: 10.1007/s10875-018-0492-0. Epub 2018 Apr 4.
- 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 Primary Immunodeficiencies and APECED, 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 1 inclusion and 1 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: finished, as of the sponsor's last update on 20 Jul 2023. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Prevalence (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 NCT01953016, 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 20 Jul 2023.