Investigation of ADA Enzyme Deficiency

NCT05300334 | Unknown

• 1 other identifier: TR-ADA-002
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Adenosine Deaminase Deficiency

Keywords

lymphopenia, adenosine deaminase, guithre paper

Outcome Measures

Primary Outcomes (1)

• The ratio of patients with a high ADA metabolite test to patients with lymphopenia

  The proportion of patients with lymphopenia who have an ADA metabolite test above the threshold and are suspected of having an ADA enzyme deficiency

  2 years

Interventions

adenosine deaminase test DIAGNOSTIC_TEST

adenosine deaminase deficiency test

Eligibility Criteria

• Age: Up to 40 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

1. The presence of lymphopenia as a result of at least one hemogram of the patient, * The number of lymphocytes should be below 3000/mm3 for the first 0-12 months * The number of lymphocytes dec below 1500/mm3 for the first 13 months- ≤ 40 years 2. The patient should be 0- ≤ 40 years of age

You may qualify if:

• 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 number of lymphocytes should be below 3000/mm3 for the first 0-12 months
• The number of lymphocytes dec below 1500/mm3 for the first 13 months- ≤ 40 years
• The patient should be 0- ≤ 40 years of age

You may not qualify if:

• 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,
• According to the researcher's opinion, the patient will not be able to properly fulfill the study requirements,
• Pregnancy and/or lactation period
• The fact that the volunteer participating in the study received an erythrocyte suspension or a complete blood transfusion within the last 3 months.

Sponsors & Collaborators

• TRPHARM: lead

Study Sites (1)

Ankara Üniversitesi Tıp Fakültesi

Ankara, Mamak, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Severe combined immunodeficiency due to adenosine deaminase deficiency; Lymphopenia

Condition Hierarchy (Ancestors)

Leukopenia; Cytopenia; Hematologic Diseases; Hemic and Lymphatic Diseases; Leukocyte Disorders; Immunologic Deficiency Syndromes; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 18, 2022
• First Posted: March 29, 2022
• Study Start: October 10, 2019
• Primary Completion: November 5, 2020
• Study Completion: October 10, 2022
• Last Updated: March 29, 2022

Record last verified: 2022-03

Locations

TU (1)