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Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency

NCT05040256 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2021-11-15

No results posted yet for this study

Summary

CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.

Conditions

  • CTLA4 Haploinsufficiency

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Xavier Ayrignac, MD · University Hospital, Montpellier

Eligibility

Min Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-01
Primary Completion
2021-08-01
Completion
2021-09-30

Countries

  • France

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 NCT05040256 on ClinicalTrials.gov