An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE NICE · Oct 6, 2023

Keywords

ClinConnect Summary

This clinical trial is studying a rare form of muscular dystrophy called Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2). The goal is to learn more about how this disease progresses over time and to identify specific markers in the blood that could indicate how severe the disease is. Understanding these factors is important because it may help researchers develop better treatments in the future. The study will follow participants for 18 months to gather valuable information on the condition.

To join the study, participants need to be between 18 and 75 years old, have a confirmed genetic diagnosis of FSHD2, and show some signs of muscle weakness. They should also be willing to stay consistent with any supplements they are taking. Participants will undergo assessments and tests as part of the study, and they will be supported throughout the process. This research is essential for improving our understanding of FSHD2, which affects a small number of people, and to potentially lead to new treatment options.

Gender

ALL

Eligibility criteria

• 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