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New Biomarkers for Diagnosis and Follow-up of Patients With LRBA or CTLA4 Deficiencies

NCT04377867 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2020-05-08

No results posted yet for this study

Summary

Primary immune deficiencies (PID) are a group of chronic diseases characterized by recurrent infections. Apart from recurrent infections, in some of PIDs autoimmunity, allergy or malignancy could be accompanied to the diseases. Recently, the advanced sequencing technologies have led to the identification of a growing number of novel PIDs including the immune dysregulation syndromes caused by loss of function mutations in the LRBA (encoding lipopolysaccharide-responsive beige like anchor protein) and CTLA4 (encoding cytotoxic T lymphocyte antigen 4) genes, which are in common associated with autoimmunity in addition to a predisposition to recurrent infections. PIDs with autoimmune components usually tend to have a more protracted clinical course and poorer prognosis rendering early diagnosis and treatment more crucial. The accurate diagnosis largely relies on the molecular diagnosis due to the significant overlaps between the phenotypic expression of these various genetic defects. The project aims to provide better and early diagnosis for LRBA, CTLA4 deficiencies by using basic and advanced immunological, genetic and molecular assays and rendering an early targeting therapy for patients, discover disease related new pathways and biomarkers that can be helpful during diagnosis and monitoring abatacept targeted therapy responses.

Conditions

  • LRBA Deficiency
  • CTLA4 Haploinsufficiency

Interventions

DRUG

Abatacept Injection [Orencia]

Patients on abatacept to control disease symptoms

Sponsors & Collaborators

  • The Scientific and Technological Research Council of Turkey

    collaborator OTHER

  • Marmara University

    lead OTHER

Principal Investigators

  • Safa Baris, M.D. · Marmara University

Eligibility

Min Age
1 Year
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-01-15
Primary Completion
2022-07-15
Completion
2023-01-15

Countries

  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04377867 on ClinicalTrials.gov