Rare Genetic DiseaseInflammaNUPNCT06731790
Role of the Nuclear Pore Component RANBP2 in Inflammatory Responses to Viral Infections
A study testing Blood sampling for inflammatory phenotype analysis and Blood sampling for genetic analysis in people with Rare Genetic Disease and Acute Necrotizing Encephalopathy, run by University Hospital, Montpellier at 1 site in France.
Trial summary
The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1 (ANE1) patients with those from sex- and age-matched donors who do not carry the… Read more about this study
- Who is it for?
- Ages 1 year to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Rare Genetic Disease, Acute Necrotizing Encephalopathy
- What is being tested?
- Blood sampling for inflammatory phenotype analysis and Blood sampling for genetic analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 35 participants
- Where
- 1 siteFrance
- Study dates
- 24 Apr 2025to 1 Sep 2025
- Phase
- Interventional
- 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 1 year to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Obtaining written consent from adult participants
- Obtaining written consent from legal guardians of minors with their assent
- Subjects aged 1 to 90
- Subject with a T585M mutation in RANBP2 for the RANBP2 mutation arm.
- Subjects matched on age (+/- 10 years) and gender for the "control" arm.
Who cannot join
- Patient not affiliated to a social security scheme or not a beneficiary of such a scheme. (for example, a European Health Insurance Card (EHIC))
- Absence of written informed consent
- Person unable to give consent
- legally protected adult (guardianship, curatorship)
- Person deprived of liberty
- Person participating in another research study with an exclusion period still in progress
Trial locations and contacts
1 site in 1 country.
About this study
The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1 (ANE1) patients with those from sex- and age-matched donors who do not carry the mutation.To date, no study has investigated the molecular mechanisms regulating the inflammatory response in ANE1 disease directly on patient samples.
The primary endpoint in individuals in the "mutated RANBP2" arm is an inflammatory phenotype (hyperinflammatory monocytes, secretion of pro-inflammatory cytokines, anti-glycoprotein autoantibodies), significantly exacerbated basal and/or post-stimulation production of pro-inflammatory cytokines compared with the control arm.
Read more
The secondary objective is to examine the allelic expression of mutant RANBP2 and characterize genetic variants by whole-exome sequencing, in order to associate them with RANBP2 protein localization and ANE crisis severity
The researchers will compare the group of ANE1 patients with age- and sex-matched control groups, divided into two subgroups: unrelated controls and controls with familial ties. The aim is to study the different types of inflammatory responses and correlate them with the localization of the RANBP2 protein and the severity of ANE episodes.
Participants will participate in a single visit during which demographic data, clinical history and a blood test will be collected with one (unrelated control) or two blood tubes (ANE1 and related control).
Read the detailed description
The nucleoporin RANBP2, also known as Nup358, is a component of the cytoplasmic filaments of nuclear pore complexes (NPCs), which regulate the transport of macromolecules between the cytoplasm and the nucleus. Mutations in the RANBP2 gene are associated with a rare genetic predisposition to acute necrotizing encephalopathy (ANE1), a predominantly pediatric disease characterized by multiple, symmetrical hemorrhagic lesions of the brain following febrile infection, most often with influenza A virus (IAV). Given the presumed inflammatory nature of ANE1, first-line treatment includes intravenous administration of high-dose pharmacological corticosteroids with or without immunoglobulins. In addition, two clinical cases report that IL-6 inhibition by tocilumizab may have a beneficial role.
The research team have recently demonstrated that loss or mislocalisation of RANBP2, as seen with ANE-linked mutations, boosts influenza virus replication and triggers excessive inflammation.
The researchers hypothesis is that mutation of RANBP2 in ANE1 patients weakens nuclear pore control of innate immune signaling pathways, leading to an exacerbated inflammatory response to infections.
- Being tested
- Blood sampling for inflammatory phenotype analysis, Blood sampling for genetic analysis
- Keywords
- RANBP2, nuclear pore
- Medical subject headings
- Leukoencephalitis, Acute Hemorrhagic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampling for inflammatory phenotype analysisOther
Blood sampling for basal and post-stimulation inflammatory phenotype analysis
Blood sampling for genetic analysisGenetic
Collection of a blood tube for whole exome sequencing, , long-read sequencing of the RANBP2 gene and analysis of the presence of the mutation by RTqPCR.
| Study group | Role | What they receive |
|---|---|---|
| Mutant RANBP2 associated with predisposition to ANE1 | Experimental | Subjects aged 1 to 90 with a T585M mutation in RANBP2 for the "RANBP2 mutation" arm. During a single visit, 2 tubes of blood will be sampled, demographic data and clinical history collected, and a clinical examination performed. Receives: Other: Blood sampling for inflammatory phenotype analysis; Genetic: Blood sampling for genetic analysis |
| Healthy control subjects | Active comparator | For healthy control subjects related to a person from the "mutant RANBP2" arm: During a single visit, 2 tubes of blood will be sampled, demographic data and clinical history collected, and a clinical examination performed. Healthy control subjects related to a person from the "mutant RANBP2" arm will be included in the third Secondary Outcome (whole exome sequencing).
For healthy control subjects unrelated to a person from the "mutant RANBP2" arm: During a routine epilepsy consultation for children, or a family disease screening for adults, an additional blood tube will be sampled, demographic data collected and a clinical examination performed. Healthy control subjects unrelated to a person from the "mutant RANBP2" arm will not be included in the third Secondary Outcome (whole exome sequencing). Receives: Other: Blood sampling for inflammatory phenotype analysis; Genetic: Blood sampling for genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of the inflammatory phenotype of circulating immune cells, both basal and following stimulation, from ANE1 patients with those from sex- and age-matched donors not carrying the mutation
These experiments will be carried out on blood, serum, peripheral blood mononuclear cells (PBMC) and monocyte-derived macrophages and microglia (MDM and MMG, respectively).
The primary endpoint for individuals in the "mutated RANBP2" arm is an inflammatory phenotype, basal and/or after stimulation, that is significantly exacerbated compared with the "control" arms. Samples will be analyzed by ELISA/Luminex and flow cytometry. The expected difference will be a 2 to 10-fold upregulation in one or several markers of hyperinflammatory monocytes, and/or in one or several secreted pro-inflammatory cytokines, and/or in one or several autoantibodies, based on our results in PBMC treated with RANBP2-targeted RNA interference
Measured: Baseline
Secondary outcomes (3)
Determination of the allelic expression of mutated RANBP2
The first secondary endpoint will be heterozygous expression of mutated RANBP2 in individuals in the "mutated RANBP2" arm. The method of evaluation will be RT-PCR targeted to RANBP2, followed by quantitative PCR discriminating for the mutation, a diagnostic method recently introduced in the IRIM laboratory.
Measured: Baseline
Determination of the effect of the T585M heterozygous mutation on RANBP2 localization
The second secondary outcome will be the significantly exacerbated basal and/or post-stimulation RANBP2 delocalization compared with the "control" arm. This will be tested on monocyte-derived macrophages by confocal microscopy.
Measured: Baseline
Characterization of genetic variants that are significantly associated with ANE seizure severity
The third secondary endpoint will be the identification of genetic variants associated with the history of ANE episodes, if any, and their severity. The evaluation method will be whole exome sequencing, and long-read sequencing, only on participants from ANE families in the "control" and "mutated RANBP2" arms.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2024
- Study start24 Apr 2025
- Primary completion1 Sep 2025
- Study completion1 Sep 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Rare Genetic DiseaseStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Controlled, pathophysiological, exploratory interventional pilot study
- Masking
- None (open label)
- Enrolment
- 35 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- Institut de Recherche en Infectiologie de Montpellier (CNRS), A*STAR Infectious Diseases Labs
- Responsible party
- Sponsor
- Investigators
- Pierre MEYER, MD, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06731790
- Sponsor's protocol ID
- RECHMPL23_0455
- Acronym
- InflammaNUP
- Status last verified
- Nov 2025
- First submitted
- 9 Dec 2024
- Last updated
- 5 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
Koh JC, Murugasu A, Krishnappa J, Thomas T. Favorable Outcomes With Early Interleukin 6 Receptor Blockade in Severe Acute Necrotizing Encephalopathy of Childhood. Pediatr Neurol. 2019 Sep;98:80-84. doi: 10.1016/j.pediatrneurol.2019.04.009. Epub 2019 Apr 25.
PubMed 31201070Bashiri FA, Al Johani S, Hamad MH, Kentab AY, Alwadei AH, Hundallah K, Hasan HH, Alshuaibi W, Jad L, Alrifai MT, Hudairi A, Al Sheikh R, Alenizi A, Alharthi NA, Abdelmagid TA, Ba-Armah D, Salih MA, Tabarki B. Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia. Front Pediatr. 2020 Oct 9;8:526. doi: 10.3389/fped.2020.00526. eCollection 2020.
PubMed 33163461Okumura A, Mizuguchi M, Kidokoro H, Tanaka M, Abe S, Hosoya M, Aiba H, Maegaki Y, Yamamoto H, Tanabe T, Noda E, Imataka G, Kurahashi H. Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev. 2009 Mar;31(3):221-7. doi: 10.1016/j.braindev.2008.03.005. Epub 2008 May 5.
PubMed 18456443Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev. 1997 Mar;19(2):81-92. doi: 10.1016/s0387-7604(96)00063-0.
PubMed 9105653Lim HY, Ho VP, Lim TC, Thomas T, Chan DW. Serial outcomes in acute necrotising encephalopathy of childhood: A medium and long term study. Brain Dev. 2016 Nov;38(10):928-936. doi: 10.1016/j.braindev.2016.05.002. Epub 2016 May 30.
PubMed 27256511Lee JH, Kim AJ, Kyong TY, Jang JH, Park J, Lee JH, Lee MJ, Kim JS, Suh YJ, Kwon SR, Kim CW. Evaluating the Outcome of Multi-Morbid Patients Cared for by Hospitalists: a Report of Integrated Medical Model in Korea. J Korean Med Sci. 2019 Jul 1;34(25):e179. doi: 10.3346/jkms.2019.34.e179.
PubMed 31243937Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26.
PubMed 26923722Li J, Huo F, Wang S, Fan Y, Wu J, Zhang Z, Liu S, Wang Q. Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection. Pediatr Investig. 2023 Nov 19;7(4):290-296. doi: 10.1002/ped4.12406. eCollection 2023 Dec.
PubMed 38050538Jiang J, Wang YE, Palazzo AF, Shen Q. Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection. Int J Mol Sci. 2022 Mar 24;23(7):3548. doi: 10.3390/ijms23073548.
PubMed 35408907Levine JM, Ahsan N, Ho E, Santoro JD. Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics. Mult Scler Relat Disord. 2020 Aug;43:102194. doi: 10.1016/j.msard.2020.102194. Epub 2020 May 15.
PubMed 32426208Denier C, Balu L, Husson B, Nasser G, Burglen L, Rodriguez D, Labauge P, Chevret L. Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. J Neurol Sci. 2014 Oct 15;345(1-2):236-8. doi: 10.1016/j.jns.2014.07.025. Epub 2014 Jul 18.
PubMed 25128471Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009.
PubMed 19118815Mizuguchi M, Abe J, Mikkaichi K, Noma S, Yoshida K, Yamanaka T, Kamoshita S. Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. J Neurol Neurosurg Psychiatry. 1995 May;58(5):555-61. doi: 10.1136/jnnp.58.5.555.
PubMed 7745402Desgraupes S, Etienne L, Arhel NJ. RANBP2 evolution and human disease. FEBS Lett. 2023 Oct;597(20):2519-2533. doi: 10.1002/1873-3468.14749. Epub 2023 Oct 15.
PubMed 37795679Stewart M. Polyadenylation and nuclear export of mRNAs. J Biol Chem. 2019 Mar 1;294(9):2977-2987. doi: 10.1074/jbc.REV118.005594. Epub 2019 Jan 25.
PubMed 30683695
Study at a glance
From the registry record, last updated by the sponsor on 5 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of the Nuclear Pore Component RANBP2 in Inflammatory Responses to Viral Infections
- ClinicalTrials.gov ID
- NCT06731790
- Acronym / sponsor ID
- InflammaNUP / RECHMPL23_0455
- Keywords
- RANBP2, nuclear pore
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 35 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- Institut de Recherche en Infectiologie de Montpellier (CNRS), A*STAR Infectious Diseases Labs
- Study start
- 24 Apr 2025 (actual)
- Primary completion
- 1 Sep 2025 (actual)
- Study completion
- 1 Sep 2025 (actual)
- First posted
- 12 Dec 2024 (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.
The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1 (ANE1) patients with those from sex- and age-matched donors who do not carry the mutation.To date, no study has investigated the molecular mechanisms regulating the inflammatory response in ANE1 disease directly on patient samples.
The primary endpoint in individuals in the "mutated RANBP2" arm is an inflammatory phenotype (hyperinflammatory monocytes, secretion of pro-inflammatory cytokines, anti-glycoprotein autoantibodies), significantly exacerbated basal and/or post-stimulation production of pro-inflammatory cytokines compared with the control arm.
The secondary objective is to examine the allelic expression of mutant RANBP2 and characterize genetic variants by whole-exome sequencing, in order to associate them with RANBP2 protein localization and ANE crisis severity
The researchers will compare the group of ANE1 patients with age- and sex-matched control groups, divided into two subgroups: unrelated controls and controls with familial ties. The aim is to study the different types of inflammatory responses and correlate them with the localization of the RANBP2 protein and the severity of ANE episodes.
Participants will participate in a single visit during which demographic data, clinical history and a blood test will be collected with one (unrelated control) or two blood tubes (ANE1 and related control).
Detailed description
The nucleoporin RANBP2, also known as Nup358, is a component of the cytoplasmic filaments of nuclear pore complexes (NPCs), which regulate the transport of macromolecules between the cytoplasm and the nucleus. Mutations in the RANBP2 gene are associated with a rare genetic predisposition to acute necrotizing encephalopathy (ANE1), a predominantly pediatric disease characterized by multiple, symmetrical hemorrhagic lesions of the brain following febrile infection, most often with influenza A virus (IAV). Given the presumed inflammatory nature of ANE1, first-line treatment includes intravenous administration of high-dose pharmacological corticosteroids with or without immunoglobulins. In addition, two clinical cases report that IL-6 inhibition by tocilumizab may have a beneficial role.
The research team have recently demonstrated that loss or mislocalisation of RANBP2, as seen with ANE-linked mutations, boosts influenza virus replication and triggers excessive inflammation.
The researchers hypothesis is that mutation of RANBP2 in ANE1 patients weakens nuclear pore control of innate immune signaling pathways, leading to an exacerbated inflammatory response to infections.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Controlled, pathophysiological, exploratory interventional pilot study
| Arm | Type | Receives |
|---|---|---|
| Mutant RANBP2 associated with predisposition to ANE1 | Experimental | Other: Blood sampling for inflammatory phenotype analysis, Genetic: Blood sampling for genetic analysisSubjects aged 1 to 90 with a T585M mutation in RANBP2 for the "RANBP2 mutation" arm. During a single visit, 2 tubes of blood will be sampled, demographic data and clinical history collected, and a clinical examination performed. |
| Healthy control subjects | Active comparator | Other: Blood sampling for inflammatory phenotype analysis, Genetic: Blood sampling for genetic analysisFor healthy control subjects related to a person from the "mutant RANBP2" arm: During a single visit, 2 tubes of blood will be sampled, demographic data and clinical history collected, and a clinical examination performed. Healthy control subjects related to a person from the "mutant RANBP2" arm will be included in the third Secondary Outcome (whole exome sequencing). For healthy control subjects unrelated to a person from the "mutant RANBP2" arm: During a routine epilepsy consultation for children, or a family disease screening for adults, an additional blood tube will be sampled, demographic data collected and a clinical examination performed. Healthy control subjects unrelated to a person from the "mutant RANBP2" arm will not be included in the third Secondary Outcome (whole exome sequencing). |
Who may qualify
- Ages
- 1 year to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Obtaining written consent from adult participants
- Obtaining written consent from legal guardians of minors with their assent
- Subjects aged 1 to 90
- Subject with a T585M mutation in RANBP2 for the RANBP2 mutation arm.
- Subjects matched on age (+/- 10 years) and gender for the "control" arm.
Key exclusion criteria (6 listed)
- Patient not affiliated to a social security scheme or not a beneficiary of such a scheme. (for example, a European Health Insurance Card (EHIC))
- Absence of written informed consent
- Person unable to give consent
- legally protected adult (guardianship, curatorship)
- Person deprived of liberty
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampling for inflammatory phenotype analysisBlood sampling for basal and post-stimulation inflammatory phenotype analysis | Other | Healthy control subjects, Mutant RANBP2 associated with predisposition to ANE1 |
| Blood sampling for genetic analysisCollection of a blood tube for whole exome sequencing, , long-read sequencing of the RANBP2 gene and analysis of the presence of the mutation by RTqPCR. | Genetic | Healthy control subjects, Mutant RANBP2 associated with predisposition to ANE1 |
Primary outcome
Comparison of the inflammatory phenotype of circulating immune cells, both basal and following stimulation, from ANE1 patients with those from sex- and age-matched donors not carrying the mutation
Time frame: Baseline
These experiments will be carried out on blood, serum, peripheral blood mononuclear cells (PBMC) and monocyte-derived macrophages and microglia (MDM and MMG, respectively). The primary endpoint for individuals in the "mutated RANBP2" arm is an inflammatory phenotype, basal and/or after stimulation, that is significantly exacerbated compared with the "control" arms. Samples will be analyzed by ELISA/Luminex and flow cytometry. The expected difference will be a 2 to 10-fold upregulation in one or several markers of hyperinflammatory monocytes, and/or in one or several secreted pro-inflammatory cytokines, and/or in one or several autoantibodies, based on our results in PBMC treated with RANBP2-targeted RNA interference
3 secondary outcomes
Determination of the allelic expression of mutated RANBP2
Time frame: Baseline
Determination of the effect of the T585M heterozygous mutation on RANBP2 localization
Time frame: Baseline
Characterization of genetic variants that are significantly associated with ANE seizure severity
Time frame: Baseline
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 5 Feb 2026.
- Background: PubMed 31201070Koh JC, Murugasu A, Krishnappa J, Thomas T. Favorable Outcomes With Early Interleukin 6 Receptor Blockade in Severe Acute Necrotizing Encephalopathy of Childhood. Pediatr Neurol. 2019 Sep;98:80-84. doi: 10.1016/j.pediatrneurol.2019.04.009. Epub 2019 Apr 25.
- Background: PubMed 33163461Bashiri FA, Al Johani S, Hamad MH, Kentab AY, Alwadei AH, Hundallah K, Hasan HH, Alshuaibi W, Jad L, Alrifai MT, Hudairi A, Al Sheikh R, Alenizi A, Alharthi NA, Abdelmagid TA, Ba-Armah D, Salih MA, Tabarki B. Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia. Front Pediatr. 2020 Oct 9;8:526. doi: 10.3389/fped.2020.00526. eCollection 2020.
- Background: PubMed 18456443Okumura A, Mizuguchi M, Kidokoro H, Tanaka M, Abe S, Hosoya M, Aiba H, Maegaki Y, Yamamoto H, Tanabe T, Noda E, Imataka G, Kurahashi H. Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev. 2009 Mar;31(3):221-7. doi: 10.1016/j.braindev.2008.03.005. Epub 2008 May 5.
- Background: PubMed 9105653Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev. 1997 Mar;19(2):81-92. doi: 10.1016/s0387-7604(96)00063-0.
- Background: PubMed 27256511Lim HY, Ho VP, Lim TC, Thomas T, Chan DW. Serial outcomes in acute necrotising encephalopathy of childhood: A medium and long term study. Brain Dev. 2016 Nov;38(10):928-936. doi: 10.1016/j.braindev.2016.05.002. Epub 2016 May 30.
- Background: PubMed 31243937Lee JH, Kim AJ, Kyong TY, Jang JH, Park J, Lee JH, Lee MJ, Kim JS, Suh YJ, Kwon SR, Kim CW. Evaluating the Outcome of Multi-Morbid Patients Cared for by Hospitalists: a Report of Integrated Medical Model in Korea. J Korean Med Sci. 2019 Jul 1;34(25):e179. doi: 10.3346/jkms.2019.34.e179.
- Background: PubMed 26923722Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26.
- Background: PubMed 38050538Li J, Huo F, Wang S, Fan Y, Wu J, Zhang Z, Liu S, Wang Q. Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection. Pediatr Investig. 2023 Nov 19;7(4):290-296. doi: 10.1002/ped4.12406. eCollection 2023 Dec.
- Background: PubMed 35408907Jiang J, Wang YE, Palazzo AF, Shen Q. Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection. Int J Mol Sci. 2022 Mar 24;23(7):3548. doi: 10.3390/ijms23073548.
- Background: PubMed 32426208Levine JM, Ahsan N, Ho E, Santoro JD. Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics. Mult Scler Relat Disord. 2020 Aug;43:102194. doi: 10.1016/j.msard.2020.102194. Epub 2020 May 15.
- Background: PubMed 25128471Denier C, Balu L, Husson B, Nasser G, Burglen L, Rodriguez D, Labauge P, Chevret L. Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. J Neurol Sci. 2014 Oct 15;345(1-2):236-8. doi: 10.1016/j.jns.2014.07.025. Epub 2014 Jul 18.
- Background: PubMed 19118815Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009.
- Individual participant dataSharing planned: Yes
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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.
Pierre MEYER, MD principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sampling for inflammatory phenotype analysis and Blood sampling for genetic analysis in people with Rare Genetic Disease and Acute Necrotizing Encephalopathy, 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 5 inclusion and 6 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 5 Feb 2026. 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?
Comparison of the inflammatory phenotype of circulating immune cells, both basal and following stimulation, from ANE1 patients with those from sex- and age-matched donors not carrying the mutation (time frame: Baseline). 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 NCT06731790, which also lists 15 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 5 Feb 2026; AzTrials last refreshed its copy on 7 Nov 2026.