Ongoing Clinical Trials for Facioscapulohumeral Muscular Dystrophy
There are currently 7 clinical trials ongoing across Europe for facioscapulohumeral muscular dystrophy (FSHD), a genetic muscle disorder that causes progressive muscle weakness particularly affecting the face, shoulders, and upper arms. These trials are testing several investigational medications including ARO-DUX4, AOC 1020, losmapimod, satralizumab, and RO7204239, aimed at slowing disease progression and improving muscle function in affected individuals.
Clinical trial locations
- Denmark
- France
- Study on the Effectiveness and Safety of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Effectiveness and Safety of Satralizumab for Patients with Type 1 Facioscapulohumeral Muscular Dystrophy
- Study on the Long-Term Safety and Effectiveness of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Germany
- Italy
- Study of ADS-010 for Adults with Facioscapulohumeral Muscular Dystrophy Type 1
- Study on AOC 1020 for Adults with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Effectiveness and Safety of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Effects and Safety of RO7204239 for Patients with Facioscapulohumeral Muscular Dystrophy
- Netherlands
- Study of ADS-010 for Adults with Facioscapulohumeral Muscular Dystrophy Type 1
- Study on AOC 1020 for Adults with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Effectiveness and Safety of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Safety and Effects of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)
- Spain
- Study of ADS-010 for Adults with Facioscapulohumeral Muscular Dystrophy Type 1
- Study on the Effectiveness and Safety of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Study on the Long-Term Safety and Effectiveness of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
Study of ADS-010 for Adults with Facioscapulohumeral Muscular Dystrophy Type 1
This trial is evaluating ARO-DUX4, also known as ADS-010, a gene-silencing therapy delivered through intravenous infusion. The study aims to assess the safety and tolerability of this investigational medication in adults with genetically confirmed FSHD1.
Main inclusion criteria: Participants must have genetically confirmed FSHD1 and a clinical severity score between 3 and 8. An MRI scan must identify a suitable lower leg muscle for biopsy with a specific fat fraction between 10% and 40%. Participants must be between 18 and 70 years old, have a body mass index between 18.0 and 30.0, and have a normal heart function as shown by a 12-lead ECG. Those who can have children must agree to use effective birth control during the study and for 12 weeks after completion.
Main exclusion criteria: Individuals without FSHD, those outside the specified age range, and certain vulnerable populations are excluded from participation.
Study focus: The trial investigates how the body processes ARO-DUX4 and monitors for treatment-related side effects. ARO-DUX4 works by targeting and reducing the expression of the DUX4 gene, which plays a key role in FSHD development. The study involves multiple doses with regular monitoring through blood tests and imaging assessments, continuing until 2026.
Investigational drug: ARO-DUX4 is a gene-silencing medication designed to modify the underlying genetic cause of FSHD1 by reducing DUX4 gene activity and potentially reducing muscle cell damage.
Study on AOC 1020 for Adults with Facioscapulohumeral Muscular Dystrophy (FSHD)
This study is testing AOC 1020, a monoclonal antibody linked to small genetic material called siRNA, administered through intravenous infusion. The trial compares the effects of AOC 1020 with a placebo to evaluate safety and tolerability.
Main inclusion criteria: Participants must have confirmed FSHD1 or FSHD2 through genetic testing. They must be able to walk 10 meters independently or with assistive devices like a cane or braces. At least one muscle area suitable for biopsy is required, and participants must have muscle weakness in both upper and lower body areas as determined by the study doctor.
Main exclusion criteria: Patients without FSHD, those outside the specified age range, and vulnerable populations cannot participate.
Study focus: The trial monitors how the body processes AOC 1020 by checking medication concentration in blood and muscle tissue over time. Regular health assessments track any side effects and measure potential improvements in muscle function. The study continues until 2025.
Investigational drug: AOC 1020 is a specialized antibody therapy that aims to reduce activity of genes associated with FSHD, potentially helping to manage muscle weakness and improve muscle function.
Study on the Effectiveness and Safety of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
This 48-week double-blind study evaluates losmapimod tablets in patients with FSHD. Participants are randomly assigned to receive either losmapimod or placebo, with neither participants nor researchers knowing who receives which treatment.
Main inclusion criteria: Participants must have genetically confirmed FSHD1 and a clinical severity score between 2 and 4. They must weigh 100 kg or less and be able to walk without support. An initial whole-body MRI must show at least one lower limb muscle with specific signals indicating muscle inflammation, along with evidence of muscle fat replacement. Participants must be between 18 and 65 years old and willing to maintain their current exercise level throughout the study. Those who can have children must use effective birth control during treatment and for 90 days after.
Main exclusion criteria: Patients with other types of muscular dystrophy, those outside the age range, and vulnerable populations are excluded.
Study focus: The primary goal is to assess whether losmapimod can slow the progression of muscle weakness in FSHD patients. The study includes regular check-ups with laboratory tests, heart monitoring through ECGs, and physical examinations to evaluate both effectiveness and long-term safety. An optional extension phase allows continued evaluation of the medication’s benefits.
Investigational drug: Losmapimod is a p38 MAP kinase inhibitor taken orally as tablets. It works by blocking enzymes involved in inflammatory responses and muscle degeneration, potentially slowing disease progression.
Study on the Effectiveness and Safety of Satralizumab for Patients with Type 1 Facioscapulohumeral Muscular Dystrophy
This 96-week study evaluates satralizumab, a monoclonal antibody administered through subcutaneous injection. The trial includes a 48-week double-blind period followed by an open-label phase where all participants may receive the active medication.
Main inclusion criteria: Participants must have genetically confirmed FSHD1 and a clinical severity score between 2 and 4 on the RICCI score. They must weigh 100 kg or less and be able to walk without support. A whole-body MRI must show at least one lower limb muscle with specific signals indicating active disease, along with appropriate levels of muscle fat replacement. Participants must be between 18 and 65 years old and willing to maintain their exercise routine. Women who can have children must use effective birth control during treatment.
Main exclusion criteria: Patients with other types of muscular dystrophy, those outside the specified age range, and vulnerable populations cannot participate.
Study focus: The study assesses changes in muscle condition using MRI scans, clinical severity scores, and muscle strength measurements. Satralizumab targets specific inflammation pathways that may be involved in disease progression, potentially reducing muscle damage.
Investigational drug: Satralizumab is a monoclonal antibody that blocks a specific protein involved in inflammation. It is injected under the skin and aims to modify the inflammatory processes contributing to muscle damage in FSHD1.
Study on the Effects and Safety of RO7204239 for Patients with Facioscapulohumeral Muscular Dystrophy
This double-blind trial tests RO7204239, a humanized monoclonal antibody administered through subcutaneous injection. The study compares the effects of RO7204239 with a placebo using MRI imaging to monitor muscle changes.
Main inclusion criteria: Participants must be between 18 and 65 years old with genetic confirmation of either FSHD1 or FSHD2. They must have clinical findings consistent with FSHD and be able to walk 10 meters unassisted. A score between 2.5 and 4 on the Ricci Clinical Severity Scale is required. Participants must agree to maintain their current level of physical therapy, occupational therapy, and exercise throughout the study.
Main exclusion criteria: The trial excludes individuals without FSHD and those outside the specified age range.
Study focus: The trial uses MRI to observe muscle volume, fat content changes, and measures blood levels of myostatin, a protein related to muscle growth. Regular health checks including vital signs, heart function monitoring, and laboratory tests ensure participant safety. The study aims to understand how RO7204239 affects muscles and whether it can help improve muscle function, continuing until the end of 2025.
Investigational drug: RO7204239 is a monoclonal antibody designed to interact with latent myostatin, targeting specific proteins involved in muscle function to potentially alter disease progression.
Study on the Long-Term Safety and Effectiveness of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
This trial focuses on the long-term safety and tolerability of losmapimod over 48 weeks, with an optional open-label extension where all participants may receive the active medication.
Main inclusion criteria: Participants must have confirmed FSHD1 diagnosis and a clinical severity score between 2 and 4, excluding those who require wheelchairs or walkers. An MRI must identify a suitable muscle for biopsy. Participants must be between 18 and 65 years old and agree to use approved birth control methods during the study and for 90 days after the last dose.
Main exclusion criteria: Individuals without FSHD1, those outside the age range, and vulnerable populations are excluded.
Study focus: The primary endpoint is evaluating the long-term safety and tolerability of losmapimod. The study measures drug levels in the blood at regular 12-week intervals and monitors participants for any health changes or side effects throughout the treatment period.
Investigational drug: Losmapimod is a p38 MAP kinase inhibitor administered orally as film-coated tablets, designed to reduce inflammation and potentially slow muscle degeneration in FSHD.
Study on the Safety and Effects of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)
This study evaluates the long-term safety and effects of losmapimod tablets in FSHD1 patients. Participants who complete the main study through Week 60 may enter an extension phase for continued evaluation.
Main inclusion criteria: Participants must be between 18 and 65 years old with confirmed FSHD1 diagnosis. A clinical severity score between 2 and 4 is required, excluding wheelchair or walker users. Participants must have a suitable muscle for biopsy as determined by MRI and agree to complete all biopsy visits and whole-body MRI scans. Both men and women must agree to use effective birth control during the study and for 90 days after the last dose.
Main exclusion criteria: Patients with other types of muscular dystrophy, those outside the age range, individuals unable to follow study procedures, those with interfering medical conditions, pregnant or breastfeeding women, people with allergies to the study medication, and those with severe mental health issues or substance abuse history are excluded.
Study focus: The trial monitors specific biomarkers and clinical outcomes related to disease progression. Regular clinic visits include blood work, heart monitoring, and other safety assessments. The study aims to determine if losmapimod is safe for long-term use and whether it affects disease markers positively.
Investigational drug: Losmapimod is a p38 MAP kinase inhibitor taken orally that works by reducing enzymes involved in inflammation, potentially helping to reduce muscle damage and slow disease progression in FSHD1.
Summary
Currently, seven clinical trials are investigating potential treatments for facioscapulohumeral muscular dystrophy across multiple European countries. The trials are concentrated primarily in Italy and the Netherlands, each hosting four studies, followed by France and Spain with three studies each, Germany with two, and Denmark with two. France hosts one unique trial focusing exclusively on satralizumab.
The investigational medications being tested represent different therapeutic approaches. Losmapimod appears in four separate trials, reflecting significant research interest in this p38 MAP kinase inhibitor. Other medications under investigation include ARO-DUX4, a gene-silencing therapy targeting the DUX4 gene; AOC 1020, a monoclonal antibody with siRNA; satralizumab, targeting inflammation pathways; and RO7204239, a monoclonal antibody affecting myostatin.
Most trials focus on FSHD1, with participation generally limited to adults between 18 and 65 years old who have moderate disease severity. Common requirements include genetic confirmation of diagnosis, ability to walk independently or with minimal assistance, and willingness to maintain consistent exercise levels. The studies emphasize long-term safety monitoring alongside effectiveness assessments, with durations ranging from 48 to 96 weeks, and some offering extension phases for continued evaluation.
These trials represent important steps toward developing effective treatments for this progressive genetic muscle disorder, which currently has no approved disease-modifying therapies.
