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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

CTLA4 Haploinsufficiency Autoimmune Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diabetes Mellitus, Insulin-Dependent, 12 Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Inflammation Nervous System Diseases Neuroinflammatory Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Primary Immunodeficiency Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Uhmontpellier

Montpellier, 34295, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients diagnosed with CTLA4 or LRBA mutation

Exclusion criteria

Age < 12 years

Treatment and study plan

Primary outcomes

Number of Neurologic impairment

Time frame: 1 day

Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology

Secondary outcomes

Presence of reccurent infections

Time frame: 1 day

Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Registry information

Important dates

Study start: 2021
Primary completion: 2021
Study completion: 2021
First posted: Sep 10, 2021
Registry last updated: Nov 15, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting