Evaluation of Adenosine Deaminase (ADA) Enzyme Deficiency in Patients With Lymphopenia and/or Elevated Immunoglobulin E

NCT05300373 | Unknown DMC

• 1 other identifier: TR-ADA-009
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This study was designed as an observational, prospective, epidemiological screening study. Patients who have been admitted to the center and whose lymphopenia and/or Immunoglobulin E elevation has been detected in at least one examination in their medical history will be included. In accordance with the relevant legislation, patients are required to accept and sign the Informed Consent Form regarding their participation in the study. Current data that the physician has already questioned in his daily practice 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. This sample will be prepared by taking it from the patient as the physician deems appropriate, dripping it into a special area designated on Guthrie paper and drying it. The test result will be sent to the researcher by e-mail. 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 adult patients with immunoglobulin E elevation and/or lymphopenia who have an ADA metabolite test above the threshold value

  The ratio of adult patients with immunoglobulin E elevation and/or lymphopenia who are above the ADA metabolite test threshold and are suspected of having ADA enzyme deficiency

  2 years

Secondary Outcomes (7)

• The relationship between of lymphopenia and ADA enzyme deficiency disease

  2 years

• The relationship between lymphopenia and demographic parameters

  2 years

• Family history and ADA

  2 years

• The existence of inbreeding

  2 years

• late ADA enzyme deficiency

  2 years

Interventions

ADENOSINE DEAMINASE TEST DIAGNOSTIC_TEST

ADENOSINE DEAMINASE DEFICIENCY TEST

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: all
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

male and female patients aged 18-40 years

You may qualify if:

• \. Signing of the written informed consent form by the patient and/or his legal representative,
• The patient is between 18 and 40 years of age.
• Patients with one major and one minor criteria from the following criteria will be included in the study:
• Major Criteria:
• Lymphopenia: The patient has lymphopenia as a result of at least one hemogram,
• The number of lymphocytes is below 1500/mm3
• Immunoglobulin E height: The level of immunoglobulin E is above 120 kU/L.
• Minor Criteria:
• Two or more new ear infections within a year
• Two or more new sinus infections within a year when there is no allergy
• One pneumonia per year for more than a year
• Chronic diarrhea with weight loss
• Recurrent viral infections (Colds, herpes, warts, condyloma)
• The need for repeated intravenous antibiotics to clear infections
• Recurrent deep skin or internal organ abscesses

You may not qualify if:

• Having used drugs that can cause lymphopenia before being included in the study (chemotherapy, cytotoxic drug use, etc.),
• The Ministry of Health COVID-19 diagnosis guide (nazofaringeal, nasal orofaringiyal or SARS-CoV-2 RNA PCR test and/or tomographic) as COVID-19, diagnosed and/or persons who had contact with patient recruitment criteria, patients diagnosed in this manner karsilasal PCR tests were negative even after those patients in the study will be taken.
• Before being included in the study, it should be noted that other diseases that can cause lymphopenia (hematological diseases, oncological diseases, etc.) have been diagnosed with,
• 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

Sponsors & Collaborators

• TRPHARM: lead

Study Sites (1)

Konya Necmettin Erbakan University

Konya, Meram, 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: December 3, 2021
• Primary Completion: January 3, 2022
• Study Completion: December 3, 2023
• Last Updated: March 29, 2022

Record last verified: 2022-03

Locations

TU (1)