Down SyndromeNCT02421276
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
A study testing Phlebotomy in people with Down Syndrome and Polyendocrinopathies, Autoimmune, run by University of Colorado, Denver at 1 site in United States.
Trial summary
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Read more about this study
- Who is it for?
- Ages Up to 22 yearsHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections
- What is being tested?
- Phlebotomy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 45 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Oct 2015to Feb 2018
- Phase
- Interventional
- 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 Up to 22 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- Age newborn up until the twenty-second birthday.
- Diagnosed with idiopathic or secondary pulmonary arterial hypertension as defined by a mean pulmonary artery pressure > 25 mmHg at rest or > 30 mmHg with exercise.
- Confirmed trisomy 21.
- Followed by the Pulmonary Hypertension Program and Sie Center at The Children's Hospital.
- The investigator or co-investigator must obtain written informed consent and assent where applicable before any study procedure is performed or data is collected.
Who cannot join
- Any person older than 22 years of age
- Patients with sickle cell disease with Pulmonary Arterial Hypertension (PAH) as treatment is defined differently within this population.
- In the opinion of the investigator, a patient who is unlikely to cooperate or complete the study for any reason.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Colorado, Denver
Denver, Colorado, 80045
About this study
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Patients are being asked to be in this research study because the investigators want to see if their blood contains more of less of the AIRE gene.
Read the detailed description
Down Syndrome (DS) is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, DS is associated with cognitive impairment, congenital malformations (particularly cardiovascular), and dysmorphic features. In addition, immunological abnormalities are much more prevalent in individuals with DS. For example, DS is associated with increased susceptibility to infection, as revealed in 2009 during the influenza pandemic where the likelihood of death was 300 times greater for DS patients than the general population. DS patients have increased frequencies of autoimmune disorders and leukemias, yet curiously, have a decreased risk for allergic diseases, particularly asthma. Perhaps the most telling statistic for immunologic abnormality in DS patients is that respiratory tract infections are the most important cause of mortality in DS at all ages.Our studies have identified AIRE as a master control gene that is aberrantly decreased in persons with DS, leading to autoimmunity and immunologic abnormalities. AIRE ("autoimmune regulator"), although encoded on chromosome 21, is also significantly reduced in expression in DS, where it may contribute to autoimmune and immune dysregulation. The investigators will test the hypothesis that immune dysfunction and autoimmune disease preferentially occur in DS as a consequence of deficient expression of AIRE in peripheral blood cells.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Being tested
- Phlebotomy
- Medical subject headings
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmune Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PhlebotomyOther
White blood cell analysis: Subtypes of white blood cells will be counted by flow cytometry
| Study group | Role | What they receive |
|---|---|---|
| Persons without Down syndrome | Other | White blood cell analysis from persons without Down syndrome assessed by absence of trisomy 21. Receives: Other: Phlebotomy |
| Persons with Down syndrome | Other | White blood cell analysis from persons with Down syndrome assessed by presence of trisomy 21. Receives: Other: Phlebotomy |
What is being measured
The primary outcome is the main question the study is designed to answer.
AIRE Gene expression in Macrophage Subpopulations
Peripheral blood draw
Measured: At the time of sample acquisition
Secondary outcomes (1)
White blood cell Subpopulation Numbers
Peripheral blood draw
Measured: At the time of sample acquisition
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Apr 2015 (estimated)
- Study start19 Oct 2015
- Primary completionFeb 2018
- Study completionFeb 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 45 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Michael E Yeager, Ph.D., Principal investigator, University of Colorado, Denver
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02421276
- Sponsor's protocol ID
- 14-2300
- Status last verified
- Apr 2022
- First submitted
- 15 Apr 2015
- Last updated
- 19 Apr 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
- ClinicalTrials.gov ID
- NCT02421276
- Acronym / sponsor ID
- 14-2300
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 45 participants (actual)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Study start
- 19 Oct 2015 (actual)
- Primary completion
- Feb 2018 (actual)
- Study completion
- Feb 2018 (actual)
- First posted
- 20 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.
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Patients are being asked to be in this research study because the investigators want to see if their blood contains more of less of the AIRE gene.
Detailed description
Down Syndrome (DS) is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, DS is associated with cognitive impairment, congenital malformations (particularly cardiovascular), and dysmorphic features. In addition, immunological abnormalities are much more prevalent in individuals with DS. For example, DS is associated with increased susceptibility to infection, as revealed in 2009 during the influenza pandemic where the likelihood of death was 300 times greater for DS patients than the general population. DS patients have increased frequencies of autoimmune disorders and leukemias, yet curiously, have a decreased risk for allergic diseases, particularly asthma. Perhaps the most telling statistic for immunologic abnormality in DS patients is that respiratory tract infections are the most important cause of mortality in DS at all ages.Our studies have identified AIRE as a master control gene that is aberrantly decreased in persons with DS, leading to autoimmunity and immunologic abnormalities. AIRE ("autoimmune regulator"), although encoded on chromosome 21, is also significantly reduced in expression in DS, where it may contribute to autoimmune and immune dysregulation. The investigators will test the hypothesis that immune dysfunction and autoimmune disease preferentially occur in DS as a consequence of deficient expression of AIRE in peripheral blood cells.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Persons without Down syndrome | Other | Other: PhlebotomyWhite blood cell analysis from persons without Down syndrome assessed by absence of trisomy 21. |
| Persons with Down syndrome | Other | Other: PhlebotomyWhite blood cell analysis from persons with Down syndrome assessed by presence of trisomy 21. |
Who may qualify
- Ages
- Up to 22 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Age newborn up until the twenty-second birthday.
- Diagnosed with idiopathic or secondary pulmonary arterial hypertension as defined by a mean pulmonary artery pressure > 25 mmHg at rest or > 30 mmHg with exercise.
- Confirmed trisomy 21.
- Followed by the Pulmonary Hypertension Program and Sie Center at The Children's Hospital.
- The investigator or co-investigator must obtain written informed consent and assent where applicable before any study procedure is performed or data is collected.
Key exclusion criteria (3 listed)
- Any person older than 22 years of age
- Patients with sickle cell disease with Pulmonary Arterial Hypertension (PAH) as treatment is defined differently within this population.
- In the opinion of the investigator, a patient who is unlikely to cooperate or complete the study for any reason.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PhlebotomyWhite blood cell analysis: Subtypes of white blood cells will be counted by flow cytometry | Other | Persons with Down syndrome, Persons without Down syndrome |
Primary outcome
AIRE Gene expression in Macrophage Subpopulations
Time frame: At the time of sample acquisition
Peripheral blood draw
1 secondary outcome
White blood cell Subpopulation Numbers
Time frame: At the time of sample acquisition
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 19 Apr 2022.
Related trials for Down Syndrome
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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.
Michael E Yeager, Ph.D. principal investigator
University of Colorado, Denver
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Phlebotomy in people with Down Syndrome and Polyendocrinopathies, Autoimmune, run by University of Colorado, Denver 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 5 inclusion and 3 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 19 Apr 2022. 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?
AIRE Gene expression in Macrophage Subpopulations (time frame: At the time of sample acquisition). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 Apr 2022.