Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
Long-term study on immune system aging in Down syndrome with and without thymus surgery
Plain English Summary
Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy is a Not Applicable clinical trial sponsored by National Institute of Allergy and Infectious Diseases (NIAID) studying Down Syndrome. This study observes how the immune system ages in individuals with Down syndrome, comparing those who have had part of their thymus removed during surgery to those who haven't. It is for people aged 1 year and older with Down syndrome, and also seeks healthy relatives to participate as a comparison group. Participation involves annual clinic visits for up to 15 years, including physical exams, blood and stool samples, and heart/lung tests. Some adults may have an imaging scan. There are no direct treatment alternatives being tested; this is an observational study to understand natural health patterns. The trial aims to enroll 700 participants.
Official Summary
Background: Down syndrome is a genetic disorder that can cause heart defects and other problems in the body. People with Down syndrome are more likely to have infections, autoimmunity, and blood diseases. Some may need surgery to treat congenital heart problems. During this surgery, doctors sometimes remove part of the thymus. The thymus is an organ that plays a role in immune function. People who have had part of their thymus removed may get sick more often than others do. Objective: This natural history study will gather data about how removing part of the thymus affects the health of people with Down syndrome. Eligibility: People aged 1 year and older with Down syndrome. The study will include both people who have, and those who have not had, surgery to remove part of their thymus. Healthy relatives are also needed. Design: Participants with Down syndrome will have clinic visits at least once a year for 15 years. At each visit they will have a physical exam. They will give blood and stool samples. They will have tests of their heart and lung function. Participants aged 18 years or older may have at least 1 imaging scan: They will lie on a table that slides into a donut-shaped machine. The machine uses X-rays to take pictures of the inside of the body. Participants who have tissue samples collected from their bodies (biopsies) taken during the study may have extra tissue taken for research. Healthy relatives will also have visits once a year for 15 years. They will only have a physical exam and provide blood and stool samples.
Who Can Participate
Here is what you need to know about eligibility for this trial. Individuals aged 1 year or older with a confirmed diagnosis of Down syndrome can join. Participants must be willing to have their samples and data stored for future research. People who have had surgery to remove part of their thymus, as well as those who haven't, are eligible. Healthy relatives living in the same household as a participant with Down syndrome are also needed for comparison. This trial is studying Down Syndrome, so participants generally need a confirmed diagnosis. The trial is currently accepting new participants.
What They're Measuring
The study will track how often individuals with Down syndrome develop autoimmune conditions, have abnormal immune cell counts, or experience certain infections, providing insights into their long-term The specific primary outcome measures are: Frequency of T21 individuals with laboratory evidence of autoantibodies (Through end of study); Number and type of autoimmune manifestations/year (Through end of study); Frequency of individuals with abnormal T and B cell counts and immunoglobulin serum levels (Through end of study); Proportion of T21 individuals with malignancies by age group (compared to the general population), and type of malignancies (Through end of study); Nature of infections (bacterial, viral, fungal, opportunistic pathogens) requiring hospitalization (Through end of study). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.
About This Phase
This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.
Why This Trial Matters
This trial is important because it aims to fill a knowledge gap about how the immune system ages in people with Down syndrome, particularly concerning the impact of thymus removal, which could lead to This research targets Down Syndrome, where improved treatment options are needed.
Investor Insight
This long-term observational study by the NIAID focuses on a specific aspect of Down syndrome health, suggesting a need for better understanding of immune dysregulation in this population, which could The large enrollment target of 700 participants suggests significant investment in this program.
Is This Trial Right for Me?
Ask your doctor about the study's 15-year duration and what each annual visit will entail. Be prepared for regular physical exams, blood draws, and stool samples over many years. If you are an adult participant, understand that you may undergo an imaging scan (like a CT scan) as part of the study. This trial is currently recruiting participants. The trial is being conducted at 1 site. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.
AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.
Study Design
- Study Type: OBSERVATIONAL
- Enrollment: 700 participants
Primary Outcomes
- Frequency of T21 individuals with laboratory evidence of autoantibodies (Through end of study)
- Number and type of autoimmune manifestations/year (Through end of study)
- Frequency of individuals with abnormal T and B cell counts and immunoglobulin serum levels (Through end of study)
- Proportion of T21 individuals with malignancies by age group (compared to the general population), and type of malignancies (Through end of study)
- Nature of infections (bacterial, viral, fungal, opportunistic pathogens) requiring hospitalization (Through end of study)
Secondary Outcomes
- Levels of specific antibodies to immunization antigens (Through end of study)
- Proportion of T cells exhibiting expression of exhaustion markers (Through end of study)
- Diversity of T-cell receptor repertoire, measured as proportion of CD4+ and CD8+ cells expressing distinct TRBV families (Through end of study)
- Distribution of subsets of Th, T follicular helper, and Treg cells (Through end of study)
- Proportion of dysreactive B cell subsets (defined as CD19(hi) CD21(low) CD38(low) B cells) (Through end of study)
Full Eligibility Criteria
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1\. Aged \>=1 year. 2\. Willingness to allow storage of specimens and data for future research. * Additional Inclusion Criteria for Affected Participants 1. Documented T21 based on chromosomal karyotype test. 2. Ability of participant or LAR to provide informed consent. * Additional Inclusion Criteria for Unaffected Relatives 1. Ability of participant to provide informed consent or, for individuals \<18 years of age, to provide informed assent as applicable. 2. Reside in the same household as the corresponding affected participant. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: 1\. Any condition that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study.
Trial Locations
- National Institutes of Health Clinical Center, Bethesda, Maryland, United States
Frequently Asked Questions
What is clinical trial NCT07416201?
NCT07416201 is a Not Applicable OBSERVATIONAL study titled "Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy." It is currently recruiting and is sponsored by National Institute of Allergy and Infectious Diseases (NIAID). The trial targets enrollment of 700 participants.
What conditions does NCT07416201 study?
This trial investigates treatments for Down Syndrome. The primary condition under study is Down Syndrome.
What does Not Applicable mean for NCT07416201?
This study does not have a defined clinical phase. It may be an observational study, expanded access program, or other non-interventional research.
What is the current status of NCT07416201?
This trial is currently "Recruiting." It started on 2026-04-05. The estimated completion date is 2040-11-01.
Who is sponsoring NCT07416201?
NCT07416201 is sponsored by National Institute of Allergy and Infectious Diseases (NIAID). The sponsor is responsible for funding, designing, and overseeing the clinical trial.
How many people can participate in NCT07416201?
The trial aims to enroll 700 participants. The trial is currently recruiting and accepting new participants.
How is NCT07416201 designed?
This is a observational study.
What are the primary outcomes being measured in NCT07416201?
The primary outcome measures are: Frequency of T21 individuals with laboratory evidence of autoantibodies (Through end of study); Number and type of autoimmune manifestations/year (Through end of study); Frequency of individuals with abnormal T and B cell counts and immunoglobulin serum levels (Through end of study); Proportion of T21 individuals with malignancies by age group (compared to the general population), and type of malignancies (Through end of study); Nature of infections (bacterial, viral, fungal, opportunistic pathogens) requiring hospitalization (Through end of study). These are the main endpoints researchers use to determine whether the treatment is effective.
Where is NCT07416201 being conducted?
This trial is being conducted at 1 site, including Bethesda, Maryland (United States).
Where can I find official information about NCT07416201?
The official record for NCT07416201 is available on ClinicalTrials.gov at https://clinicaltrials.gov/study/NCT07416201. This government database provides the most up-to-date and detailed information about the trial.
What is NCT07416201 testing in simple terms?
This study observes how the immune system ages in individuals with Down syndrome, comparing those who have had part of their thymus removed during surgery to those who haven't. It is for people aged 1 year and older with Down syndrome, and also seeks healthy relatives to participate as a comparison group.
Why is this trial significant?
This trial is important because it aims to fill a knowledge gap about how the immune system ages in people with Down syndrome, particularly concerning the impact of thymus removal, which could lead to
What are the potential risks of participating in NCT07416201?
Potential risks include discomfort from blood draws and the possibility of incidental findings during imaging scans. Some participants may experience anxiety or fatigue related to frequent clinic visits over a long period. There's a small risk of infection from sample collection, though standard safety protocols will be followed. As with any clinical trial, participants are closely monitored and can withdraw at any time.
Should I consider participating in NCT07416201?
Ask your doctor about the study's 15-year duration and what each annual visit will entail. Be prepared for regular physical exams, blood draws, and stool samples over many years. If you are an adult participant, understand that you may undergo an imaging scan (like a CT scan) as part of the study. Always discuss clinical trial participation with your healthcare provider to determine if it is appropriate for your specific situation.
What does NCT07416201 signal from an investment perspective?
This long-term observational study by the NIAID focuses on a specific aspect of Down syndrome health, suggesting a need for better understanding of immune dysregulation in this population, which could This is a Not Applicable trial, which is in early development stages.
What happens if the treatment in this trial doesn't work?
Participation involves annual clinic visits for up to 15 years, including physical exams, blood and stool samples, and heart/lung tests. Some adults may have an imaging scan. Participants in clinical trials always have the right to withdraw and pursue alternative treatments. The study team will help transition patients to other available options.
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This analysis is AI-generated and does not constitute medical advice. Always consult your healthcare provider before making decisions about clinical trial participation.