Status:
RECRUITING
An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression
Lead Sponsor:
Centre Hospitalier Universitaire de Nice
Conditions:
Facioscapulohumeral Muscular Dystrophy Type 2
Eligibility:
All Genders
18-75 years
Phase:
NA
Brief Summary
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- Genetically confirmed FSHD2: pathogenic mutation in SMCHD1 gene and at least one D4Z4 4qA allele;
- Age 18-75 years
- Symptomatic limb weakness
- Clinical severity score of 2 to 5 (RICCI score; range 0-5), inclusive, at screening:
- Group ambulant patient with a RICCI score of 2 to 4
- Group non-ambulant patient with a RICCI score of 5
- Patient giving written consent after written and oral information
- Patient affiliated to a social security system
- If taking over the counter supplements, willing to remain consistent with supplement regimen throughout the course of the study
- Non inclusion criteria:
- Patients with comorbidity not related to the disease that can modify the natural evolution of the disease or would interfere with safe testing in the opinion of the Investigator
- Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
- Contraindication to muscle MRI as per clinic standard practice
- Patients who has been to a tropical or subtropical country during the last 3 months
- Patients who has practiced physical exercise within 10 hours before blood test
- Patients declaring not to be fasting for at least 10 hours
- Patients following a particular diet for medical reasons and after prescription by a doctor or dietitian
- Patients who regularly consumes large quantities of alcohol
- Patients having consumed an illicit recreational drug during the last 3 months
- Patients having been vaccinated during the last 3 months
- Patients having received a blood transfusion or immunoglobulins during the last 3 months
- Patients declaring to be seropositive for HIV, HBV or HCV
- Patients having had an infectious episode during the 3 weeks preceding the visit
- Use of an experimental drug in an FSHD clinical trial within the past 30 days
- Participation in others clinical trials
- Pregnant women, breastfeeding women, women of childbearing age without contraception Pregnancy
- Patient with legal protection measures (future protection mandate, family empowerment, guardianship, curators) under Article L. 1122-2 of the French Public Health Code
- Patient refusing to participate in the study or expressing opposition to participation
Exclusion
Key Trial Info
Start Date :
October 3 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
April 1 2026
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT06079567
Start Date
October 3 2023
End Date
April 1 2026
Last Update
October 9 2024
Active Locations (9)
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1
Leuven University
Leuven, Belgium, 3000
2
Nice University Hospital
Nice, Alpes M, France, 06000
3
APHM
Marseille, Bouches du Rhone, France, 13005
4
Myology Institute
Paris, Paris, France, 75000