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

NCT04694456 | Completed

• 1 other identifier: 16-AOI-13
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Muscular Dystrophies

Outcome Measures

Primary Outcomes (1)

• Comparison of serum IL-6 levels between FSHD1 patients and control subjects (from other previous studies) comparable in terms of age and sex

  Serum IL-6 levels will be measured using v-plex technology (MSD) in FSHD1 patients and compared with results obtained in paired control subjects from 2 cohorts (NCT00998231 and Cytokinage study NCT02660723)

  21 months

Secondary Outcomes (4)

• Comparison of serum levels of 28 oher pro-inflammatory cytokines between FSHD1 patients and control subjects

  21 months

• Comparison of cytokines produced upon in vitro stimulation of blood cells in FSHD1 patients and control subjects

  21 months

• Evaluation of potential correlations between cytokines levels (either in the serum or produced upon in vitro stimulation) and clinical severity in FSHD1 patients

  21 months

• Evaluation of potential correlations between cytokines levels (either in the serum or produced upon in vitro stimulation) and muscle MRI caracteristics in FSHD1 patients

  21 months

Study Arms (1)

Facioscapulohumeral muscular dystrophy

EXPERIMENTAL

Adult ambulant patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1)

Other: cytokines dosage; Procedure: test of walk; Procedure: Manual muscular test; Procedure: Motrice fonction mesurement

Interventions

cytokines dosage OTHER

Mesure of cytokines concentration in serum

Also known as: biological analysis

Facioscapulohumeral muscular dystrophy

test of walk PROCEDURE

patient must walk during 6 minutes on a flat surface

Facioscapulohumeral muscular dystrophy

Manual muscular test PROCEDURE

test performed to evaluate the patient muscular weakness

Facioscapulohumeral muscular dystrophy

Motrice fonction mesurement PROCEDURE

scale allowing the evaluation of patient posture and upper body movements

Facioscapulohumeral muscular dystrophy

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• male or female age 18 to 75
• suffering from genetically confirmed FSHD1 (\<11 D4Z4 repeat units on permissive chromosome 4 allele)
• ambulant or walking with assistance
• Manual Muscle Testing ≥4 for 1 of lower limb muscles

You may not qualify if:

• pregnancy or breast feeding
• stay in tropical/subtropical country within 3 months
• physical exercice within 10 hours
• specific diet (e.g. hypocaloric or cholesterol lowering diet)
• regular alcohol consumption; drug consumption within 3 months
• immunosuppressive or immonumodulating drug within 2 weeks or for more than 3 months withing last 6 months
• vaccination, blood transfusion of immunoglobulin treatment within 3 months
• infection within 3 weeks; HIV, HBV, HCV seropositivity
• chronic inflammatory and/or autoimmune or allergic disease from the gut (Crohn disease, ulcerative colitis), skin (psoriasis, atopic dermatitis), joints (rhumatoid arthritis), nervous system (multiple sclerosis), diabetes type I and II
• neurodegenerative disorders (Alzheimer's or Parkinson's diseases)
• diagnosed cancer not under remission for at least 5 years
• participation in the last 3 months in a research clinical trial with exposure to a pharmaceutical product or a medical device
• muscular MRI contraindication

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

CHU de NICE

Nice, France

Location

Related Publications (1)

• Sanson B, Slioui A, Garcia J, Klouvi L, Lejeune J, Stalens C, Guien C, Rabarimeriarijaona S, Bernard R, Nectoux J, Attarian S, Bedat-Millet AL, Bouhour F, Boyer FC, Chanson JB, Choumert A, Cintas P, De La Cruz E, Feasson L, Fournier M, Ghorab K, Jacquin-Piques A, Laforet P, Magot A, Michaud M, Noury JB, Sole G, Spinazzi M, Stojkovic T, Tard C, Villa L, Beroud C, Sacconi S; French FSHD registry collaboration group. Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. Orphanet J Rare Dis. 2025 Sep 2;20(1):470. doi: 10.1186/s13023-025-03877-z.

  PMID: 40898356 RESULT

MeSH Terms

Conditions

Muscular Dystrophies

Interventions

Biological Oxygen Demand Analysis

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Environmental Monitoring; Environmental Exposure; Environmental Pollution; Public Health; Environment and Public Health; Public Health Practice

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Interventional pilot study

Study Record Dates

• First Submitted: December 31, 2020
• First Posted: January 5, 2021
• Study Start: January 30, 2018
• Primary Completion: May 18, 2021
• Study Completion: May 18, 2021
• Last Updated: March 24, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)