Clinical Research Directory

A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy

The goal of this clinical trial is to learn how safe and tolerable EPI-321 is and whether there may be early signs it is working in male or female adult (18 to 75 years) participants with facioscapulohumeral muscular dystrophy (FSHD) Type 1 condition. The main questions it aims to answer are: How safe is EPI-321 and how well can people handle it over time? How does EPI-321 interact with its target and does it show early signs of working? Participants will receive a single dose of EPI-321 through a vein while being closely watched in a hospital and visit the clinic regularly for tests and checkups for about 5 years after getting EPI-321.

Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD

A randomized Phase 2 study to evaluate the efficacy and safety of apitegromab as a monotherapy in participant with FSHD

BetterLife FSHD: A Patient-driven Health and Research Platform

BetterLife FSHD is a registry platform built to support people living with FSHD. It connects patients with personalized resources, tools, and research opportunities that match their health experiences and needs. At the same time, BetterLife collects secure health and experience data from patients to support research. This data is shared with researchers to help better understand FSHD and work toward improved care, treatments, and outcomes for the community. Learn more and enroll at: www.BetterLifeFSHD.org

A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

Biomarker Development for Muscular Dystrophies

Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.

ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100,000. The disease is characterized by slowly progressive, asymmetric muscle weakness that starts with the face and scapular muscles. It causes significant lifetime morbidity, with up to 20% of patients eventually requiring full-time wheelchair use. However, there is a large degree of clinical variability in both disease progression and severity. This makes predicting an individual's disease course difficult and has made clinical trial design challenging. The disease is caused by the aberrant expression of a normally silenced gene, DUX4, which causes disease by a toxic gain-of-function. The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments. Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4, including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy, Duchenne muscular dystrophy, and myotonic dystrophy. The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry, advocacy groups, and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development. As drugs move from preclinical testing into human trials, it is essential to validate clinical trial tools and methodologies to facilitate drug development. There is a strong need for clinical outcome measures (COMs) including biomarkers, strength outcomes, functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy. A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients (ReSolve, NCT03458832). Additionally, Nice University Hospital is conducting an ancillary study (CTRL FSHD France, NCT04038138) to evaluate muscle MRI, an additional emerging biomarker, to follow disease progression in the same patient population. To limit patient heterogeneity, only ambulant FSHD patients are included in these 2 ongoing studies. It is therefore important to generate data in severely affected non-ambulant FSHD patients, in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials.

Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.

Personalized Training for People With Rare Neuromuscular Disorders

The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1). The key objectives are: 1. To investigate if the intervention group experiences improvements in dynamic balance that are superior to the control group 2. To investigate if the intervention group experiences long-term improvements in dynamic balance that are superior to the control group during the follow-up 3. To investigate if improvements in dynamic balance are associated with improvements in physical activity, body composition, estimated motor units, metabolomics, muscle echnogenecity and volume, and other indicators of health and quality of life. This is a national study and will involve 120 individuals with rare-neuromuscular disorders from Norway's four health regions.

Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD

The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered identifying targets for therapy. As multiple drug companies pursue treatments for FSHD, there is an urgent need to define the clinical trial strategies which will hasten drug development, including creating disease-relevant outcome measures and optimizing inclusion criteria. This proposal will develop two new outcome measures (FSHD-COM and EIM) and optimize eligibility criteria by testing 320 patients across 14 international sites over a period of 24 months.

The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.