Understanding the progression of Facioscapulohumeral Muscular Dystrophy Type 2

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

This study is trying to learn more about how Facioscapulohumeral Muscular Dystrophy Type 2 affects people and how it progresses over time by tracking symptoms in patients with this condition.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 50 (estimated)
• Ages: 18 Years to 75 Years
• Sex: All
• Sponsor: Centre Hospitalier Universitaire de Nice (Academic / other)
• Locations: 9 sites (Leuven and 8 other locations)
• Trial ID: NCT06079567 on ClinicalTrials.gov

What this trial studies

This study aims to gain insights into the pathophysiology and disease progression of Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2), a rare inherited muscle disorder. It involves the validation of new clinical outcome measures (COMs) specifically for FSHD2 patients, who have a genetic mutation in the SMCHD1 gene. Participants will be monitored over an 18-month period to assess their symptoms and disease progression, focusing on the relationship between genetic factors and clinical manifestations. The study will include patients aged 18-75 with confirmed FSHD2 and varying degrees of limb weakness.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18-75 with genetically confirmed FSHD2 and symptomatic limb weakness.

Not a fit: Patients with unrelated comorbidities that could affect disease progression or those using certain muscle agents may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of FSHD2, potentially enhancing treatment strategies for affected patients.

How similar studies have performed: While FSHD1 has been more extensively studied, this approach to FSHD2 is novel and aims to fill a significant gap in understanding this less common form of the disease.

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

Where this trial is running

Leuven and 8 other locations

• Leuven University — Leuven, Belgium (Not_yet_recruiting)
• Nice University Hospital — Nice, Alpes M, France (Recruiting)
• Aphm — Marseille, Bouches du Rhone, France (Not_yet_recruiting)
• Myology Institute — Paris, Paris, France (Not_yet_recruiting)
• Gemelli University Hospital — Rome, Lazio, Italy (Not_yet_recruiting)
• Nemo Center — Milan, Lombardy, Italy (Not_yet_recruiting)
• Pisa University — Pisa, Tuscany, Italy (Not_yet_recruiting)
• Radboud University Medical Centre Nijmegen — Nijmegen, Netherlands (Not_yet_recruiting)
• Donostia University Hospital — Donostia / San Sebastian, Guipuscoa, Spain (Not_yet_recruiting)

Study contacts

• Study coordinator: Sabrina SACCONI

Conditions Facioscapulohumeral Muscular Dystrophy Type 2