Evidence map›Paper›PMID 41058127›Full record

ArticleAnnals of clinical and translational neurology2026

Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.

Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella and 4 more

2 registry-linked trialsAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04038138 naactive not recruitingnot on this map

Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study

TypeinterventionalSponsorCentre Hospitalier Universitaire de NiceRan2019 to 2026Enrolled100ConditionsMuscular Dystrophy, FacioscapulohumeralArmsValidation of new COA for FSHD patients
NCT04694456 nacompletednot on this map

Pro-inflammatory Cytokines as Potential Therapeutic Target in Type 1 Facioscapulohumeral Muscular Dystrophy: Pilot Study

TypeinterventionalSponsorCentre Hospitalier Universitaire de NiceRan2018 to 2021Enrolled30ConditionsMuscular DystrophiesArmscytokines dosage, test of walk, Manual muscular test, Motrice fonction mesurement
3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Jonathan PiniPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.ORCID 0000-0002-0882-4472
Emanuela MartinuzziInstitute of Molecular and Cellular Pharmacology, University Cote d'Azur, CNRS, Inserm, Valbonne, France.
Sandra DhifallahPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Abderhmane SliouiPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Angela PumaPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Luisa VillaPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Michele CavalliPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Andra EzaruPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Jérémy GarciaPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Manuela GambellaPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Federico TorrePrincess Grace Hospital Center, Monaco, Monaco.
Luca Jacopo PavanDepartment of Diagnostic and Interventional Radiology, Nice University Hospital, Pasteur 2 Hospital, Nice, France.
Nicolas GlaichenhausInstitute of Molecular and Cellular Pharmacology, University Cote d'Azur, CNRS, Inserm, Valbonne, France.
Sabrina SacconiPeripheral Nervous System and Muscle Department, Nice University Hospital, Pasteur 2 Hospital, Nice, France.ORCID 0000-0002-0246-1455

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveFacioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin-6 (IL-6) has been proposed as a candidate biomarker, but longitudinal validation is limited.

methodsWe analyzed pooled data from two prospective longitudinal cohorts: CTRN-FSHD France (NCT04038138) and Cytokine FSHD (NCT04694456), each comprising 30 genetically confirmed ambulant FSHD1 patients. Serum IL-6 levels and clinical assessments were collected at baseline (M0), 12 months (M12), and 18 months (M18); whole-body muscle MRI (T1-weighted and STIR sequences) was obtained at M0 and M12. Associations between IL-6 levels and clinical severity scores, functional measures, and MRI-derived muscle composition were evaluated.

resultsSerum IL-6 levels correlated significantly with clinical severity metrics, including Clinical Severity Score, 6-Minute Walk Test, Manual Muscle Testing, and Motor Function Measure Domain 1 at all time points. Higher IL-6 levels were associated with increased muscle fat infiltration and free water content compatible with muscle edema on MRI. Longitudinal analyses showed that increases in IL-6 over 12 months were significantly correlated with changes in T1 (fat infiltration) and STIR (muscle edema) composite scores, reflecting structural and inflammatory disease progression.

interpretationThese findings validate IL-6 as a biomarker of FSHD1 severity and underscore its potential as an activity and progression biomarker. The correlation between IL-6, clinical scores, and MRI-based muscle composition changes highlights its potential utility for monitoring disease evolution and evaluating therapeutic responses in FSHD1 patients.

Indexed as

Interleukin-6Muscular Dystrophy, FacioscapulohumeralAdolescentAdultBiomarkersDisease ProgressionFemaleHumansLongitudinal StudiesMagnetic Resonance ImagingMaleMiddle AgedMuscle, SkeletalProspective StudiesSeverity of Illness IndexYoung AdultBiomarkersIL6 protein, humanInterleukin-6

Identifiers

PMID41058127
PMCPMC12883698

What OpenQuestion holds

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LicenceCC BY
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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.