This observational study was designed as a prospective epidemiological screening study. Patients who applied to the centers participating in the study and were found to be lymphopenic in at least one examination will be included in the study. Up-to-date data will be collected from patients who have agreed to participate in the study, and a blood sample will be taken from patients on Guthrie paper. The blood taken will be sent to the Duzen Laboratories center located in Ankara and will be subjected to ADA metabolites analysis. For patients with a high metabolic test, the responsible investigator will advise on clarifying the diagnosis with a genetic test other than the study. In case of formation of new information for each patient, consultation will be provided by the responsible researcher. Thus, the prevalence of ADA enzyme deficiency disease in patients with lymphopenia will be evaluated. In addition, with this study, it will be scientifically demonstrated whether lymphopenia is a parameter that facilitates early diagnosis of ADA patients.
Who can participate
Age range
40 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Signing of the written informed consent form by the patient and/or his legal representative,
. The presence of lymphopenia as a result of at least one hemogram of the patient,
. The patient should be 0- ≤ 40 years of age
Exclusion criteria
. The patient was diagnosed with ADA enzyme deficiency before being included in the study,
. The patient has participated in an interventional clinical trial within the last 30 days,
. Failure of the patient himself and/or his legal representative to give their consent to participate in the study,
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
The ratio of patients with a high ADA metabolite test to patients with lymphopenia