Understanding the progression of Facioscapulohumeral Muscular Dystrophy Type 2

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Leuven University
  Leuven, Belgium Recruiting
• Nice University Hospital
  Nice, Alpes M, France Recruiting
• Aphm
  Marseille, Bouches Du Rhone, France Recruiting
• Myology Institute
  Paris, France Recruiting
• Gemelli University Hospital
  Rome, Lazio, Italy Recruiting
• Nemo Center
  Milan, Lombardy, Italy Recruiting

Study contacts

• Study coordinator: Sabrina SACCONI
• Email: sacconi.s@chu-nice.fr
• Phone: 0492035757

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Apitegromab for FSHD in Adults (Phase 2)

  This study tests whether apitegromab works as a standalone treatment for adults with FSHD.

  Recruiting Phase 2 Scholar Rock, Inc. · Austin, Texas · NCT07435129

• BetterLife FSHD: a patient-driven health platform

  This project tries to connect people with FSHD to personalized resources and collect their health experiences so they can be matched to relevant studies and help improve care.

  Recruiting FSHD Society · Randolph, Massachusetts · NCT07409142

• Del-brax (AOC 1020) intravenous treatment for people with FSHD

  This study will try regular IV infusions of del-brax (AOC 1020) in adults with FSHD to see if it slows muscle weakness and helps preserve walking ability.

  Recruiting at 28 sites Phase 3 Avidity Biosciences, Inc. · Orange, California and 45 other locations · NCT07038200

• Personalized exercise treatment for adults with rare neuromuscular disorders

  This study is testing if a personalized exercise program can help adults with rare neuromuscular disorders improve their balance and physical function better than regular care.

  Recruiting at 2 sites Oslo University Hospital · Bergen and 4 other locations · NCT06708468

• Developing new biomarkers for muscular dystrophies

  This study is trying to find easier and less painful ways to measure how serious muscular dystrophies are by looking at urine and blood samples and using simple tests, to help improve diagnosis and treatment for people with these conditions.

  Recruiting at 4 sites Massachusetts General Hospital · Boston, Massachusetts and 4 other locations · NCT05019625

• Registry for patients with Facioscapulohumeral Muscular Dystrophy in the UK

  This study is creating a registry to collect information from people with Facioscapulohumeral Muscular Dystrophy in the UK to better understand the condition and find future trial participants.

  Recruiting Newcastle University · Newcastle upon Tyne · NCT04001582

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.