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Research summary · AI summary · not yet reviewedHuman studyInterventionalTrial registry record – peer review not applicable
Multi-Omic Profiling in Human Multiplex Families Affected by Multiple Sclerosis
This study was designed to enroll approximately 500 participants aged 15 years and older from multiplex families affected by multiple sclerosis and related disorders. The goal was to analyze blood samples for high-penetrance genetic variants tied to these diseases, with participants followed for 36 months. However, no results have been published or are available at this time.
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This plain-English summary was written by AI from a trial registry record and may contain errors. It is not medical advice. Read the original study and talk to your MS team before making decisions about treatment.
- Human efficacy
- Not established from this source
- Mechanism
- Not reported
- Evidence strength
- No results yet
- Outcome
- Not reported
Why it matters
If successful, the study could provide insights into genetic factors that contribute to multiple sclerosis, aiding in understanding disease mechanisms within families.
What this does not prove
The lack of posted results means no findings or outcomes can be discussed, limiting the ability to draw any conclusions from the planned study.
Next milestone
No next milestone was established from the available source.
Study facts
- Study design
- Interventional
- Participants / samples
- 500 · planned enrolment
- Randomised
- Not applicable
- Controlled
- No
- Primary endpoint met
- Not reported
- Relevant MS type
- Not reported
- Publication date
- Not reported
- Evidence reviewed
- Trial registry record
- Regulatory approval
- Not reported
- Research areas
- Not classified
- Biological target
- Not reported
- Pathway
- Not reported
- Population
- Affected participants aged 15 years and 3 months or older from multiplex families with multiple sclerosis or related disorders.
- Size of effect
- Not reported
- Secondary endpoints
- Not reported
- MRI endpoints
- Not reported
- Biomarkers
- Not reported
- Safety
- Not reported
Original sources
Supporting passages (14)
study phasePhase: Not applicable
study designStudy type: Interventional
subjectsParticipants: people; ages from 15 Years; sex All
sample sizeEnrollment: 500 participants (estimated)
primary endpointPrimary endpoints: Rare high-penetrance variants co-segregating with disease within multiplex families.
follow upFollow-up: 36 months from the first inclusion.
population"eligibilityCriteria": "Inclusion Criteria:\n\n* Affected participants:\n\n * Age 15 years and 3 months or older\n * 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)\n * Member of a multiplex family: at least two affected members sharing at least 12.5% of their genetic heritage\n * Affiliated to a social security scheme or equivalent\n * Written informed consent (for minors: assent of the minor and consent of the holders of parental authority)\n* Unaffected relatives:\n\n * Age 18 years or older\n * Sharing at least 25% of genetic heritage with one of the two affected family members\n * No multiple sclerosis, NMOSD, MOGAD, or other known inflammatory disease of the central nervous system\n * Affiliated to a social security scheme or equivalent\n * Written informed consent\n* Transcriptomic sub-cohort (30 to 60 participants, about 10 families):\n\n * Patients with no immunomodulatory or immunosuppressive treatment for at least 12 months, and their relatives\n\nExclusion Criteria:\n\n* Refusal to participate before the inclusion visit\n* Inability to understand the study information or to consent\n* Person under guardianship, curatorship or legal protection\n* Person deprived of liberty by judicial or administrative decision\n* Pregnant or breastfeeding woman\n* No kinship with at least one affected member of the included family\n* Refusal to be informed of an incidental discovery of a pathogenic genetic variant",
findingsTrial registry record. Publication date: unknown. No results are posted. Planned enrolment and endpoints are not findings.
limitationsTrial registry record. Publication date: unknown. No results are posted. Planned enrolment and endpoints are not findings.
peer reviewedTrial registry record.
randomizedAllocation: Not applicable
controlledIntervention model: Single group
interventionInterventions: Blood sampling and multi-omic profiling
sample size basisEnrollment: 500 participants (estimated)
AI assessment, not yet reviewed by a person · version 1 · Community votes are separate from evidence review.