NCT04694456: CYTOKINE-FSH

Pro-inflammatory Cytokines in Facioscapulohumeral Muscular Dystrophy (CYTOKINE-FSH)

Completed NA Last updated 24 March 2026

What this trial tests

NA trial testing cytokines dosage in Muscular Dystrophies in 30 participants. Completed in 18 May 2021.

Timeline

30 January 2018

Primary endpoint
18 May 2021

18 May 2021

Quick facts

Lead sponsor	Centre Hospitalier Universitaire de Nice
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	other
Enrollment	30
Start date	30 January 2018
Primary completion	18 May 2021
Estimated completion	18 May 2021
Sites	1 location across France

Drugs / interventions tested

• cytokines dosage
• test of walk
• Manual muscular test
• Motrice fonction mesurement

Conditions studied

• Muscular Dystrophies — all drugs for Muscular Dystrophies →

Sponsor

Centre Hospitalier Universitaire de Nice

Who can join

Adults 18 to 75, any sex, with Muscular Dystrophies. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The facial-glenohumeral muscular dystrophy type 1 (DMFSH1) is characterized by a selective and asymmetrical involvement of the facial muscles, the shoulder girdle and the anterolateral lodge legs. Genetically, the disease is transmitted in an autosomal dominant manner and is caused by a pathogen contraction of repeat units (UR) say D4Z4 localized to the telomeric portion of chromosome 4qA. The loss of UR causes hypomethylation of DNA and chromatin relaxation of the region that lead to inappropriate expression of DUX4 retrogene highly toxic. The inappropriate expression induces a T cell reaction inflammatory response that participate and increase muscle damage. In favor of this hypothesis, several muscle MRI studies have shown that atrophy and fibro-adipose degeneration (hyper signal in T1) were preceded by the appearance of muscle inflammation (hyper signal T2STIR) confirmed on histologically and dysregulation of genes involved in adaptive and innate immunity. scientific hypothesis and potential benefits: the investigateur hypothesize that in patients of DMFSH1, the immune system cells may participate in the pathophysiology of the disease through changes in serum secretion of one or more cytokines and / or a modification of the response of inflammatory cells in some cell damage stimuli. Design: this is a single-center pilot study, interventional. In this study, the investigator will assay the serum cytokines and changes in peripheral blood cells of the expression of cytokines in response to some stimuli in 20 patients with Type 1 DMFSH genetically confirmed at an intermediate stage of clinical disease (kept walking, but at least one muscle of lower limbs reached) and compare with controls from the CYTOKINAGE study. The investigator will also carry patients clinical testing (MMT sum score) and functional (6minute test march MFM) and a MRI not injected whole body (T1 sequences + and T2STIR) to study the relationship between these parameters and secretion cytokines or serum in response to certain stimuli Main objective: to compare serum levels of IL-6 in patients with DMFSH and controls.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.
   Pini J, Martinuzzi E, Dhifallah S, Slioui A, et al · · 2026 · cited 1× · PMID 41058127 · DOI 10.1002/acn3.70210