Inflammation may be key in rare muscle disease
NCT ID NCT04694456
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 2 times
Summary
This pilot study examined whether inflammation, measured by cytokines in the blood, plays a role in type 1 facioscapulohumeral muscular dystrophy (FSHD1). Researchers compared 20 FSHD1 patients with healthy controls to see if certain inflammatory markers are higher in the disease. Participants also underwent walking tests, muscle strength tests, and whole-body MRI scans to link inflammation with muscle damage. The goal is to understand the disease better and potentially identify new treatment targets.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could point toward inflammation as a target for future FSHD1 treatments.
- What could go wrong
- This is a small, early pilot study with only 20 patients. It measures biomarkers, not treatment effects, so results may not lead directly to therapies.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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30 people
The number who actually took part.
- Started
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Jan 2018
- Finished
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May 2021
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 to 75 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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 Exclusion Criteria: * 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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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CHU de NICE
Nice, France
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