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Muscular DystrophiesCYTOKINE-FSHNCT04694456

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

A study testing cytokines dosage, test of walk and Manual muscular test in people with Muscular Dystrophies, run by Centre Hospitalier Universitaire de Nice at 1 site in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 to 75 years
Conditions the study is for
Muscular Dystrophies
What is being tested?
cytokines dosage, test of walk and Manual muscular test
Type of treatment
Surgery or procedure
Could I receive a placebo?
No, everyone receives an active treatment
How many people
30 participants
Where
1 siteFrance
Study dates
30 Jan 2018to 18 May 2021
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 to 75 years
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • 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

Who cannot join

  • 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
Show all 13Show fewer
  • 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

Trial locations and contacts

1 site in 1 country.

France1 site

  • CHU de NICE

    Nice

Other trials in France

About this study

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

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.

Being tested
cytokines dosage, test of walk, Manual muscular test, Motrice fonction mesurement
Medical subject headings
Muscular Dystrophies

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • cytokines dosageOther

    Also called biological analysis

    Mesure of cytokines concentration in serum

  • test of walkProcedure or surgery

    patient must walk during 6 minutes on a flat surface

  • Manual muscular testProcedure or surgery

    test performed to evaluate the patient muscular weakness

  • Motrice fonction mesurementProcedure or surgery

    scale allowing the evaluation of patient posture and upper body movements

Study groups in NCT04694456
Study groupRoleWhat they receive
Facioscapulohumeral muscular dystrophyExperimentalAdult ambulant patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1)
Receives: Other: cytokines dosage; Procedure: test of walk; Procedure: Manual muscular test; Procedure: Motrice fonction mesurement

What is being measured

The primary outcome is the main question the study is designed to answer.

  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)

    Measured: 21 months

Secondary outcomes (4)

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

    Serum levels of 28 other cytokines will be measured using v-plex technology (MSD) in FSHD1 patients and compared with results obtained in paired control subjects

    Measured: 21 months

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

    Cytokine production will be induced in blood cells by non-specific stimulation with LPS, ATP+LPS-EB or poly (I:C) in FSHD1 patients and compared with results obtained in control subjects

    Measured: 21 months

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

    Clinical severity and muscle impairment will be evaluated using standardized clinical scales (Manual Muscle Testing, Motor Function Measure-32, 6-minute walk test, age-corrected Clinical Severity Score)

    Measured: 21 months

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

    Whole body MRI will be recorded (T1 and T2STIR sequences) in order to evaluate muscle oedema, inflammation and degeneration

    Measured: 21 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted5 Jan 2021
  2. Study start30 Jan 2018
  3. Primary completion18 May 2021
  4. Study completion18 May 2021

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Other
Allocation
Not applicable
Intervention model
Single group
Model description
Interventional pilot study
Masking
None (open label)
Enrolment
30 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04694456
Sponsor's protocol ID
16-AOI-13
Acronym
CYTOKINE-FSH
Status last verified
Mar 2026
First submitted
31 Dec 2020
Last updated
24 Mar 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 40898356

  • Pini J, Martinuzzi E, Dhifallah S, Slioui A, Puma A, Villa L, Cavalli M, Ezaru A, Garcia J, Gambella M, Torre F, Pavan LJ, Glaichenhaus N, Sacconi S. Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses. Ann Clin Transl Neurol. 2026 Feb;13(2):310-323. doi: 10.1002/acn3.70210. Epub 2025 Oct 7.

    PubMed 41058127

Questions about this trial

What is this clinical trial studying?

A study testing cytokines dosage, test of walk and Manual muscular test in people with Muscular Dystrophies, run by Centre Hospitalier Universitaire de Nice at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 24 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Comparison of serum IL-6 levels between FSHD1 patients and control subjects (from other previous studies) comparable in terms of age and sex (time frame: 21 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04694456, which also lists 2 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2026.

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