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

November 12, 2021 updated by: University Hospital, Montpellier
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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Montpellier, France, 34295
        • Uhmontpellier

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients listed with CTLA4 or LRBA deficiency in the register of the national reference center for primary immunodeficiencies.

Description

Inclusion criteria:

- Patients diagnosed with CTLA4 or LRBA mutation

Exclusion criteria:

- Age < 12 years

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Investigators

  • Study Director: Xavier Ayrignac, MD, University Hospital, Montpellier

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2021

Primary Completion (Actual)

August 1, 2021

Study Completion (Actual)

September 30, 2021

Study Registration Dates

First Submitted

May 11, 2021

First Submitted That Met QC Criteria

September 1, 2021

First Posted (Actual)

September 10, 2021

Study Record Updates

Last Update Posted (Actual)

November 15, 2021

Last Update Submitted That Met QC Criteria

November 12, 2021

Last Verified

November 1, 2021

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • RECHMPL21_0290

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

NC

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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