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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05040256

Enrollment

Registered

2021-09-10

Start date

2021-02-01

Completion date

2021-09-30

Last updated

2021-11-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

CTLA4 Haploinsufficiency

Keywords

LRBA deficiency, Primary immunodeficiency, Neuroinflammation, Genetic diseases, Autoimmune diseases

Brief 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

12 Years to No maximum

Healthy volunteers

Inclusion criteria

\- Patients diagnosed with CTLA4 or LRBA mutation

Exclusion criteria

\- Age \< 12 years

Design outcomes

Primary

Measure	Time frame	Description
Number of Neurologic impairment	1 day	Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology

Secondary

Measure	Time frame	Description
Presence of reccurent infections	1 day	Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness

Countries

France

Outcome results