Immune DisordersNCT02417766
NIAID Clinical Center Genomics Opportunity Protocol
An observational study of Immune Disorders, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop. A new technology called whole exome sequencing may help find the cause of these disorders. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Immune Disorders
- How many people
- 139 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Jun 2015to 22 Jan 2019
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: NIAID Investigators and NIMH -PANDAS patients
Who may be able to join
- Whole Exome Sequencing with Secondary Findings Disclosure
- The following inclusion criteria apply to all research participants on this protocol:
- Age 0-100 years old. Clinical evaluation at the NIHCC requires age >2 years. Affected relatives <2 years of age may be included in genetic family studies despite the fact that he/she is too young for evaluation at the clinical center. Including affected relatives in family-based whole exome sequencing is critically important, even if the study team has to rely only on medical records because NIHCC evaluation is not permitted due to age.
- Willingness to allow sharing of genetic information in shared controlled access databases like dbGaP.
- Willingness to receive secondary finding report.
- Probands (i.e., affected individuals serving as the starting point for genetic study of a family) must have:
- Primary enrollment on a NIH Institutional Review Board (IRB) approved protocol (e.g., 05-I-0213 or 93-I-0063), which will execute the majority of clinical and research evaluations.
- A suspected genetic basis for the presenting immune disorder with features including but not limited to autoimmunity, autoinflammatory conditions, lymphadenopathy, end-organ dysfunction, unusual infections, allergies, or laboratory abnormalities consistent with immune dysregulation that has not been previously identified and/or with a family history suggesting genetically-based immune dysfunction (e.g., similar phenotypes among relatives and/or consanguinity).
Who cannot join
- Any participant can be excluded for the following:
- 1. Any condition which in the opinion of the investigator may interfere with the research that is the focus of this protocol.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Background:
- There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop. A new technology called whole exome sequencing may help find the cause of these disorders. Whole exome sequencing is a way to look at many genes at once for errors. Researchers hope to find new gene changes that lead to immune disorders. Additionally, researchers are interested in finding the best way to manage unexpected but important findings by whole exome sequencing.
Read more
Objectives:
- To better understand genetic causes of immune system disorders. Also, to better understand people s thoughts and feelings about immune system disorders and new genomic testing.
Eligibility:
- People ages 0 100 with an immune disorder or a relative with an immune disorder. People must be at least 2 to be evaluated at the NIH clinical center. People must be at least 12 to do the survey/interview portion of the study.
Design:
- Participants will have their genes sequenced. They may be asked for a new sample of blood.
- If participants cannot come for a study visit, they can have a blood sample collected by their local lab or doctor and sent by mail.
- Researchers may or may not find the cause of the participant s immune disorder. Participants will learn that information. Some participants may be asked to return to NIH to get results and have more tests.
- Researchers may share information with other studies. The data will be anonymous.
- For the survey part of the study, participants will answer questions about their or their relative s immune disorder. They will also answer about their thoughts and feelings about genomic testing.
- Some participants will be asked for a brief interview to ask more about the survey topics. There may be more follow-up after several months.
Read the detailed description
Investigators at National Institute of Allergy and Infectious Diseases (NIAID) are actively developing the infrastructure and capability for identifying the cause of heterogeneous immune-mediated disorders through whole exome and whole genome sequencing (WES/WGS). This effort received additional support through the establishment of the NIAID Clinical Genomics Program (CGP), a Division of Intramural Research (DIR)-supported cross-lab collaboration to increase the effectiveness of NIAID s basic and applied genomic research. The disorders under investigation include primary immunodeficiencies, immune homeostasis disorders, autoimmune conditions, and allergic diseases for which the hypothesized causative genetic mutations(s) have not yet been identified. Given recent discoveries of the genetic bases of many immunological disorders, we are also expanding the disorders studied to include those with prominent extra-immune manifestations in which a strong inherited immunological pathogenic basis has been identified; such as the Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infections (PANDAS) or Sydenham s chorea. Despite the breadth of clinical presentations under investigation, these immune-mediated disorders share significant overlap in underlying molecular pathophysiology and thus represent a coherent study target.
This protocol will facilitate the discovery of genes contributing to selected immune-mediated disorders as well as generating experience with genetic secondary finding disclosure and will further assess participant s perceptions and preference for WES and future secondary finding procedures. Ultimately, a better understanding of the genetic contribution to immune dysregulation will not only provide valuable diagnostic and, potentially, prognostic information to affected families, but also has the potential to lead to the development of novel therapeutic targets. Further, developing experience-tested and evidenced-based procedures for secondary finding management is beneficial for NIAID CGP researchers and participants.
This protocol is specific for genetic testing. Probands, or the affected person serving as the starting point for the genetic study of family, will be required to be enrolled on a primary protocol, which will execute the clinical and research evaluations. Unaffected relatives may be enrolled on this protocol only. Participants unable to travel to National Institutes of Health (NIH) Clinical Center (NIHCC) may be evaluated through mailin blood samples, although evaluation at the NIHCC is strongly preferred, particularly for affected participants. This study aims to enroll 200 participants for exome sequencing, including both patients and relatives with heterogeneous immune-mediate disorders; all participants receiving exome sequencing plus those who decline will be offered participation in the survey (i.e., up to the accrual ceiling of 200).
- Conditions
- Immune Disorders
- Keywords
- Genetic Testing, Secondary Findings, Immune-Mediated Disorders, Whole Exome Sequencing, Natural History
- Medical subject headings
- Immune System 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 |
|---|---|---|
| Family Members | Family members to the patients | |
| Patient | Patients here at NIH |
What is being measured
The primary outcome is the main question the study is designed to answer.
To discover genes contributing to selected immunemediated disorders
determination of discrete genotypephenotype association for selected immune-mediated disorders
Measured: 6 - 8 months after blood analysis
Secondary outcomes (1)
Secondary Findings -To generate experience with secondary finding disclosure among NIAID genomic researchers and further assess the perceptions and preferences among NIAID study participants for WES including secondary finding analysis and discl...
to better understand participants WES-related perceptions and preferences, including secondary finding analysis and disclosure in order to inform future practice.
Measured: 6 - 8 months after blood analysis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Apr 2015 (estimated)
- Study start29 Jun 2015
- Primary completion22 Jan 2019
- Study completion22 Jan 2019
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 Immune DisordersStudies 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 139 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Morgan N Similuk, Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02417766
- Sponsor's protocol ID
- 150113
- Other IDs
- 15-I-0113
- Status last verified
- Mar 2023
- First submitted
- 15 Apr 2015
- Last updated
- 16 Mar 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Similuk MN, Yan J, Setzer MR, Jamal L, Littel P, Lenardo M, Su HC. Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict. J Genet Couns. 2021 Jun;30(3):766-773. doi: 10.1002/jgc4.1367. Epub 2020 Dec 15.
PubMed 33320394
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NIAID Clinical Center Genomics Opportunity Protocol
- ClinicalTrials.gov ID
- NCT02417766
- Acronym / sponsor ID
- 150113
- Conditions
- Immune Disorders
- Keywords
- Genetic Testing, Secondary Findings, Immune-Mediated Disorders, Whole Exome Sequencing, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 139 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 29 Jun 2015 (actual)
- Primary completion
- 22 Jan 2019 (actual)
- Study completion
- 22 Jan 2019 (actual)
- First posted
- 16 Apr 2015 (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:
- There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop. A new technology called whole exome sequencing may help find the cause of these disorders. Whole exome sequencing is a way to look at many genes at once for errors. Researchers hope to find new gene changes that lead to immune disorders. Additionally, researchers are interested in finding the best way to manage unexpected but important findings by whole exome sequencing.
Objectives:
- To better understand genetic causes of immune system disorders. Also, to better understand people s thoughts and feelings about immune system disorders and new genomic testing.
Eligibility:
- People ages 0 100 with an immune disorder or a relative with an immune disorder. People must be at least 2 to be evaluated at the NIH clinical center. People must be at least 12 to do the survey/interview portion of the study.
Design:
- Participants will have their genes sequenced. They may be asked for a new sample of blood.
- If participants cannot come for a study visit, they can have a blood sample collected by their local lab or doctor and sent by mail.
- Researchers may or may not find the cause of the participant s immune disorder. Participants will learn that information. Some participants may be asked to return to NIH to get results and have more tests.
- Researchers may share information with other studies. The data will be anonymous.
- For the survey part of the study, participants will answer questions about their or their relative s immune disorder. They will also answer about their thoughts and feelings about genomic testing.
- Some participants will be asked for a brief interview to ask more about the survey topics. There may be more follow-up after several months.
Detailed description
Investigators at National Institute of Allergy and Infectious Diseases (NIAID) are actively developing the infrastructure and capability for identifying the cause of heterogeneous immune-mediated disorders through whole exome and whole genome sequencing (WES/WGS). This effort received additional support through the establishment of the NIAID Clinical Genomics Program (CGP), a Division of Intramural Research (DIR)-supported cross-lab collaboration to increase the effectiveness of NIAID s basic and applied genomic research. The disorders under investigation include primary immunodeficiencies, immune homeostasis disorders, autoimmune conditions, and allergic diseases for which the hypothesized causative genetic mutations(s) have not yet been identified. Given recent discoveries of the genetic bases of many immunological disorders, we are also expanding the disorders studied to include those with prominent extra-immune manifestations in which a strong inherited immunological pathogenic basis has been identified; such as the Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infections (PANDAS) or Sydenham s chorea. Despite the breadth of clinical presentations under investigation, these immune-mediated disorders share significant overlap in underlying molecular pathophysiology and thus represent a coherent study target.
This protocol will facilitate the discovery of genes contributing to selected immune-mediated disorders as well as generating experience with genetic secondary finding disclosure and will further assess participant s perceptions and preference for WES and future secondary finding procedures. Ultimately, a better understanding of the genetic contribution to immune dysregulation will not only provide valuable diagnostic and, potentially, prognostic information to affected families, but also has the potential to lead to the development of novel therapeutic targets. Further, developing experience-tested and evidenced-based procedures for secondary finding management is beneficial for NIAID CGP researchers and participants.
This protocol is specific for genetic testing. Probands, or the affected person serving as the starting point for the genetic study of family, will be required to be enrolled on a primary protocol, which will execute the clinical and research evaluations. Unaffected relatives may be enrolled on this protocol only. Participants unable to travel to National Institutes of Health (NIH) Clinical Center (NIHCC) may be evaluated through mailin blood samples, although evaluation at the NIHCC is strongly preferred, particularly for affected participants. This study aims to enroll 200 participants for exome sequencing, including both patients and relatives with heterogeneous immune-mediate disorders; all participants receiving exome sequencing plus those who decline will be offered participation in the survey (i.e., up to the accrual ceiling of 200).
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Family Members | – | –Family members to the patients |
| Patient | – | –Patients here at NIH |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- NIAID Investigators and NIMH -PANDAS patients
Key inclusion criteria (8 listed)
- Whole Exome Sequencing with Secondary Findings Disclosure
- Age 0-100 years old. Clinical evaluation at the NIHCC requires age >2 years. Affected relatives <2 years of age may be included in genetic family studies despite the fact that he/she is too young for evaluation at the clinical center. Including affected relatives in family-based whole exome sequencing is critically important, even if the study team has to rely only on medical records because NIHCC evaluation is not permitted due to age.
- Willingness to allow sharing of genetic information in shared controlled access databases like dbGaP.
- Willingness to receive secondary finding report.
- Probands (i.e., affected individuals serving as the starting point for genetic study of a family) must have:
Key exclusion criteria (2 listed)
- 1. Any condition which in the opinion of the investigator may interfere with the research that is the focus of this protocol.
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 discover genes contributing to selected immunemediated disorders
Time frame: 6 - 8 months after blood analysis
determination of discrete genotypephenotype association for selected immune-mediated disorders
1 secondary outcome
Secondary Findings -To generate experience with secondary finding disclosure among NIAID genomic researchers and further assess the perceptions and preferences among NIAID study participants for WES including secondary finding analysis and discl...
Time frame: 6 - 8 months after blood analysis
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 16 Mar 2023.
- Background: PubMed 33320394Similuk MN, Yan J, Setzer MR, Jamal L, Littel P, Lenardo M, Su HC. Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict. J Genet Couns. 2021 Jun;30(3):766-773. doi: 10.1002/jgc4.1367. Epub 2020 Dec 15.
- 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.
Morgan N Similuk 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 Immune Disorders, 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 8 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: finished, as of the sponsor's last update on 16 Mar 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?
To discover genes contributing to selected immunemediated disorders (time frame: 6 - 8 months after blood analysis). 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 NCT02417766, 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 16 Mar 2023.