Prevalence of Adenosine Deaminase (ADA) Enzyme Deficiency Disease in Adult Patients With Pulmonary Alveolar Proteinosis

NCT05300360 | Unknown DMC

• 1 other identifier: TR-ADA-006
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

Brief Summary

This observational study was designed as a prospective epidemiological screening study. Patients who have applied to the centers participating in the study and who have previously been clinically or pathologically diagnosed with PAP (Pulmonary alveolar proteinosis) 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 will be evaluated in patients diagnosed with PAP.

Conditions

Pulmonary Alveolar Proteinosis

Keywords

Pulmonary Alveolar Proteinosis, adenosine deaminase, guithre paper

Outcome Measures

Primary Outcomes (1)

• The rate of ADA enzyme deficiency in PAP patients

  The proportion of adult patients with PAP who are above the ADA metabolite test threshold and are suspected of having ADA enzyme deficiency.

  six months

Secondary Outcomes (7)

• e ratio of PAP and ADA enzyme deficiency

  6 months

• The relationship between lymphopenia and ADA enzyme deficiency

  6 months

• graphic parameters with lymphopenia

  6 months

• Family history and ADA

  6 months

• The presence of inbreeding and the relationship of adenosine deaminase

  6 months

Interventions

adenosine deaminase test DIAGNOSTIC_TEST

adenosine deaminase enzyme deficiency test

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

male and female patients aged 18-70

You may qualify if:

• Signing of the written informed consent form by the patient and/or his legal representative,
• The patient should be between the ages of 18 and 70,
• Diagnosis of PAP: The patient has been diagnosed with PAP clinically or histologically.

You may not qualify if:

• The patient was diagnosed with ADA enzyme deficiency before being included in the study,
• The patient's PAP diagnosis is secondary to an occupational disease such as silicosis,
• The patient's PAP diagnosis is secondary to an oncological disease,
• The patient has participated in an interventional clinical trial within the last 30 days,
• The patient himself and/or his legal representative did not 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)

Istanbul Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital

Istanbul, Maltepe, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Pulmonary Alveolar Proteinosis

Condition Hierarchy (Ancestors)

Lung 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: August 16, 2021
• Primary Completion: September 16, 2021
• Study Completion: August 16, 2022
• Last Updated: March 29, 2022

Record last verified: 2022-03

Locations

TU (1)