CTLA4 HaploinsufficiencyNCT05040256
Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
An observational study of CTLA4 Haploinsufficiency, run by University Hospital, Montpellier at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- CTLA4 Haploinsufficiency
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 1 Feb 2021to 30 Sep 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients listed with CTLA4 or LRBA deficiency in the register of the national reference center for primary immunodeficiencies.
Who may be able to join
- Patients diagnosed with CTLA4 or LRBA mutation
Who cannot join
- Age < 12 years
Trial locations and contacts
1 site in 1 country.
About this study
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
- Keywords
- LRBA deficiency, Primary immunodeficiency, Neuroinflammation, Genetic diseases, Autoimmune diseases
- Medical subject headings
- Diabetes Mellitus, Insulin-Dependent, 12, Primary Immunodeficiency Diseases, Neuroinflammatory Diseases, Genetic Diseases, Inborn, Autoimmune Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Neurologic impairment
Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology
Measured: 1 day
Secondary outcomes (1)
Presence of reccurent infections
Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2021
- Study start1 Feb 2021
- Primary completion1 Aug 2021
- Study completion30 Sep 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for CTLA4 HaploinsufficiencyStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Xavier Ayrignac, MD, Study director, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05040256
- Sponsor's protocol ID
- RECHMPL21_0290
- Status last verified
- Nov 2021
- First submitted
- 11 May 2021
- Last updated
- 15 Nov 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Publications
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. doi: 10.1172/JCI135947.
PubMed 32955488Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dalliere 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 haploinsufficiency. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 4;7(4):e751. doi: 10.1212/NXI.0000000000000751. Print 2020 Jul.
PubMed 32499327Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schaffer AA, Gruning 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 K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20.
PubMed 25329329
Study at a glance
From the registry record, last updated by the sponsor on 15 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
- ClinicalTrials.gov ID
- NCT05040256
- Acronym / sponsor ID
- RECHMPL21_0290
- Conditions
- CTLA4 Haploinsufficiency
- Keywords
- LRBA deficiency, Primary immunodeficiency, Neuroinflammation, Genetic diseases, Autoimmune diseases
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 1 Feb 2021 (actual)
- Primary completion
- 1 Aug 2021 (actual)
- Study completion
- 30 Sep 2021 (actual)
- First posted
- 10 Sep 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients listed with CTLA4 or LRBA deficiency in the register of the national reference center for primary immunodeficiencies.
Key inclusion criteria (1 listed)
- Patients diagnosed with CTLA4 or LRBA mutation
Key exclusion criteria (1 listed)
- Age < 12 years
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of Neurologic impairment
Time frame: 1 day
Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology
1 secondary outcome
Presence of reccurent infections
Time frame: 1 day
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Nov 2021.
- Results publication: PubMed 32955488Schindler 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. doi: 10.1172/JCI135947.
- Results publication: PubMed 32499327Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dalliere 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 haploinsufficiency. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 4;7(4):e751. doi: 10.1212/NXI.0000000000000751. Print 2020 Jul.
- Results publication: PubMed 25329329Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schaffer AA, Gruning 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 K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20.
- Individual participant dataSharing planned: Undecided. NC
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Xavier Ayrignac, MD study director
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CTLA4 Haploinsufficiency, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Nov 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Neurologic impairment (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05040256, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Nov 2021.