BridgeMD
New treatment option for Facioscapulohumeral Muscular Dystrophy Type 2
Official title An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression
ClinicalTrials.gov ID: NCT06079567
What this study is testing
- What it's testing
- 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 region of chromosome 4q35, resulting in abnormal expression of DUX4p.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 18 to 75
You may be able to join if
- 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
See the full eligibility 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
- 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
The study team makes the final eligibility decision.
Where it's taking place
- Leuven, Belgium
- Nice, Alpes M, France
- Marseille, Bouches du Rhone, France
- Paris, Paris, France
- Rome, Lazio, Italy
- Milan, Lombardy, Italy
- Pisa, Tuscany, Italy
- Nijmegen, Netherlands
- Donostia / San Sebastian, Guipuscoa, Spain
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 18 years to 75 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Leuven, Belgium; Nice, Alpes M, France; Marseille, Bouches du Rhone, France; Paris, Paris, France; Rome, Lazio, Italy; Milan, Lombardy, Italy and 3 more location(s). Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.