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

CTLA4 Haploinsufficiency Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05040256
• Other study ID #: RECHMPL21_0290
• Status: Completed
• Start date: February 1, 2021
• Est. completion date: September 30, 2021

Study information

• Verified date: November 2021
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: September 30, 2021
• Est. primary completion date: August 1, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years and older

Eligibility

Inclusion criteria:

• Patients diagnosed with CTLA4 or LRBA mutation

Exclusion criteria:

• Age < 12 years

Related Conditions & MeSH terms

• CTLA4 Haploinsufficiency

Locations

Country	Name	City	State
France	Uhmontpellier	Montpellier

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

References & Publications (3)

Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dallière C, Lozano C, Portales P, Vincent T, Viallard JF, Menjot de Champfleur N, Rieux-Laucat F, Besnard C, Koenig M, Guissart C, Labauge P, Guilpain P. Two neurologic facets of CTLA4-related haplo — View Citation

Schindler MK, Pittaluga S, Enose-Akahata Y, Su HC, Rao VK, Rump A, Jacobson S, Cortese I, Reich DS, Uzel G. Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder. J Clin Invest. 2020 Oct 1;130(10):5551-5561. — View Citation

Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of Neurologic impairment	Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology	1 day
Secondary	Presence of reccurent infections	Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness	1 day