Natural History of Immune System in Down Syndrome
This study looks at how the immune system works in people with Down syndrome (Trisomy 21 or T21), especially those who have had part of their thymus removed during heart surgery. The thymus is an organ important for immune function. Researchers want to understand if removing part of the thymus affects how often people with Down syndrome get infections or develop autoimmune conditions (when the body's immune system attacks itself). They will track the frequency of certain antibodies and autoimmune problems, as well as T and B cell counts (types of immune cells). You can join if you are at least 1 year old and have Down syndrome, whether or not you've had thymus surgery. The study aims to enroll 700 participants.
- Study design
- This is an observational study, meaning no interventions are given. It plans to enroll 700 participants.
- What's involved
- Participants will have a baseline visit and yearly follow-up visits to assess health and collect blood samples. Additional visits may occur as needed.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed through the end of the study to measure autoantibodies, autoimmune manifestations, and immune cell counts.
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Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Luigi D Notarangelo, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
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What this trial measures
- Frequency of T21 individuals with laboratory evidence of autoantibodiesThrough end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function
- Number and type of autoimmune manifestations/yearThrough end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function
- Frequency of individuals with abnormal T and B cell counts and immunoglobulin serum levelsThrough end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function
- Proportion of T21 individuals with malignancies by age group (compared to the general population), and type of malignanciesThrough end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function
- Nature of infections (bacterial, viral, fungal, opportunistic pathogens) requiring hospitalizationThrough end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function
- Incidence of severe infections requiring hospital admission (number of admissions/year; number of days of hospitalization/year)Through end of study
Describe the immune correlates of clinical endpoints (infections, autoimmunity, malignancies), and their cumulative frequency over time, in individuals with T21. Describe the possible impact of previous thymectomy on the incidence of clinical manifestations of immune deficiency and immune dysregulation, and on laboratory parameters of immune function