Observational Study Evaluating the Prevalence of Enzyme Deficiency in Pulmonology Clinics (ADA)

NCT05300347 | Unknown DMC

• 1 other identifier: TR-ADA-005
• Study Type: observational
• Target: 500
• 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, bronchiectasis was detected on at least one computed tomography of the lungs; Immunoglobulin E height and/or were found to be lymphopenic on 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 with DBS will be taken from patients. The blood taken will be subjected to analysis for ADA metabolites. For patients with a high metabolic test, the responsible researcher 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 bronchiectasis, Immunoglobulin E elevation and/or lymphopenia will be evaluated. In addition, with this study, it will be scientifically demonstrated whether lymphopenia and/or Immunoglobulin E height is a parameter that facilitates the early diagnosis of patients with late-onset ADA enzyme deficiency.

Conditions

Bronchiectasis; Adenosine Deaminase Deficiency; Pulmonary Disease

Keywords

lymphopenic, Immunoglobulin E, bronchiectasis

Outcome Measures

Primary Outcomes (1)

• It is the determination of the prevalence of ADA enzyme deficiency

  Bronchiectasis is the determination of the prevalence of ADA enzyme deficiency disease in adult patients with Immunoglobulin E elevation and/or lymphopenia.

  2 years

Secondary Outcomes (1)

• Determination of late-onset ADA enzyme deficiency

  2 years

Interventions

adenosine deaminase enzyme deficiency test DIAGNOSTIC_TEST

adenosine deaminase enzyme deficiency

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

male and female patients between the ages of 18 and 40

You may qualify if:

• Signing of the written informed consent form by the patient and/or his legal representative,
• Detection of bronchiectasis (cystic fibrosis, non-primary ciliary dyskinesia) on at least one computed tomography of the patient's lungs,
• The patient is between dec8 and 40 years of age.
• Patients with at least one major and one minor criteria from the following criteria will be included in the study:
• Major Criteria:
• Lymphopenia: lymphopenia as a result of at least one hemogram of the patient exist,
• The number of lymphocytes is below 1500/mm3
• Immunoglobulin E height: 120 kU/L of immunoglobulin E level having it on
• 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

You may not qualify if:

• The patient was diagnosed with ADA enzyme deficiency before being included in the study,
• Having used drugs that may 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 patients diagnosed in this manner, even karsilasal patient recruitment criteria, these patients will be taken after PCR tests were negative in the study.
• 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,
• Conclusion-In the opinion of the researcher, the patient will not be able to properly fulfill the study requirements,
• Pregnancy-the period of pregnancy and/or lactation,
• 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 University Medical Faculty

Ankara, Mamak, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Bronchiectasis; Severe combined immunodeficiency due to adenosine deaminase deficiency; Lung Diseases

Condition Hierarchy (Ancestors)

Bronchial Diseases; Respiratory Tract 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: June 17, 2021
• Primary Completion: September 23, 2021
• Study Completion: June 17, 2023
• Last Updated: March 29, 2022

Record last verified: 2022-03

Locations

TU (1)