NeuroDIP
What it found
No result yet.
What was tested
Treatment tested
- Blood sampling and multi-omic profiling
What it measured
Main measures
Rare high-penetrance variants co-segregating with disease within multiplex families.
36 months from the first inclusion.
Other measures (5)
eQTL: genetic loci associated with gene expression in PBMC
36 months from the first inclusion.
Immune responseDisease-associated DNA methylation (CpG sites)
36 months from the first inclusion.
Transcriptomic signatures of PBMC subpopulations
36 months from the first inclusion.
Immune responseMulti-omic molecular signatures
36 months from the first inclusion.
Evaluation of the correlation with the disease phenotype
36 months from the first inclusion.
Immune response
Who could take part
MS (type not specified) · 15 and over
Inclusion Criteria: * Affected participants: * Age 15 years and 3 months or older * Multiple sclerosis (2024 McDonald criteria), neuromyelitis optica spectrum disorder with anti-AQP4 antibodies (2015 Wingerchuk criteria), or MOG antibody-associated disease (2023 international MOGAD panel criteria) * Member of a multiplex family: at least two affected members sharing at least 12.5% of their genetic heritage * Affiliated to a social security scheme or equivalent * Written informed consent (for minors: assent of the minor and consent of the holders of parental authority) * Unaffected relatives: * Age 18 years or older * Sharing at least 25% of genetic heritage with one of the two affected family members * No multiple sclerosis, NMOSD, MOGAD, or other known inflammatory disease of the central nervous system * Affiliated to a social security scheme or equivalent * Written informed consent * Transcriptomic sub-cohort (30 to 60 participants, about 10 families): * Patients with no immunomodulatory or immunosuppressive treatment for at least 12 months, and their relatives Exclusion Criteria: * Refusal to participate before the inclusion visit * Inability to understand the study information or to consent * Person under guardianship, curatorship or legal protection * Person deprived of liberty by judicial or administrative decision * Pregnant or breastfeeding woman * No kinship with at least one affected member of the included family * Refusal to be informed of an incidental discovery of a pathogenic genetic variant
As registered. Criteria can change, so ask the trial team or your neurologist.
Contact details on the registryAbout this trial
In the sponsor's words
The goal of this observational study is to learn why some families have several members with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or MOG antibody-associated disease (MOGAD). These diseases happen when the immune system attacks the brain, optic nerves, or spinal cord. The study includes about 500 people from about 100 families: people with one of these diseases and their relatives who do not have it. The main question is: Do rare gene changes (variants) shared by family members explain why these diseases run in families? Researchers will compare the DNA of family members who have the disease with the DNA of relatives who do not. They will also look at how genes are switched on and off in blood cells. Participants will: * Attend one visit of 2 to 3 hours at one of five French hospitals * Answer questions about their health, treatments, and family history * Give a 50 mL blood sample
Papers
Background
International Multiple Sclerosis Genetics Consortium. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science. 2019 Sep 27;365(6460):eaav7188. doi: 10.1126/science.aav7188.Background
Horjus J, van Mourik-Banda T, Heerings MAP, Hakobjan M, De Witte W, Heersema DJ, Jansen AJ, Strijbis EMM, de Jong BA, Slettenaar AEJ, Zeinstra EMPE, Hoogervorst ELJ, Franke B, Kruijer W, Jongen PJ, Visser LJ, Poelmans G. Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis. Int J Mol Sci. 2022 Sep 28;23(19):11461. doi: 10.3390/ijms231911461.Background
Wannaphut C, Ongphichetmetha T, Satiraphan P, Jitprapaikulsan J, Apiwattanakul M, Siritho S, Prayoonwiwat N, Savangned P, Rattanathamsakul N. Familial neuromyelitis optica spectrum disorders: Case series and systematic review. Mult Scler Relat Disord. 2023 May;73:104627. doi: 10.1016/j.msard.2023.104627. Epub 2023 Mar 21.
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History
Started
Oct 2026
Main results due
Apr 2029
Finished
Oct 2029
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